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    Related:

    Press: Hereditary Cancer Risk Variants Found in Significant Subset of Metastatic Breast Cancer Patients. (GenomeWeb)

    Research news: Inherited Mutations In Metastatic Breast Cancer Patients. (FORCE. XRAYS.)

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    • Letter, Comment

    Related:

    Letter, Reply:

    Response to Evans et al.

    Original research:

    MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

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    Related:

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.
    • Rajagopal PS, Catenacci DVT, Olopade OI.
    • J Clin Oncol. 2019 Jun 27:JCO1900160. doi: 10.1200/JCO.19.00160. [Epub ahead of print]

    Related:

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

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    Related:

    Editorial:

    Genetic testing for breast cancer in the Hispanic community.

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    Related:

    Original research:

    Cancer incidence in familial Mediterranean fever patients: a retrospective analysis from central Anatolia.

    • Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.
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    • NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program.
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    • Prevalence and Clinical Impact of TP53 Germline Mutations in Chinese Women with Breast Cancer.
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    • Commentary
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    • Breast Cancer Susceptibility—Towards Individualised Risk Prediction.
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    • Insights Into Breast Cancer in the East vs the West: A Review.
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    • Review
    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
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    Journey's End: the quest for BRCA-like hereditary breast cancer genes is nearly over.

    • PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk.
    • Vagena A, Papamentzelopoulou M, Kalfakakou D, Kollia P, Papadimitriou C, Psyrri A, Apostolou P, Fountzilas G, Konstantopoulou I, Yannoukakos D, Fostira F.
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    • Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.
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    • WIP1 Contributes to the Adaptation of Fanconi Anemia Cells to DNA Damage as Determined by the Regulatory Network of the Fanconi Anemia and Checkpoint Recovery Pathways.
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    • Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics - the Cohort study of TP53 carrier early onset breast cancer (COPE study).
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    • Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
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    • Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era.
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    Letter, Commentary:

    A closer look at familial Mediterranean fever cases in a large breast cancer dataset.

    • The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients.
    • Chavarri-Guerra Y, Hendricks CB, Brown S, Marcum C, Hander M, Segota ZE, Hake C, Sand S, Slavin TP, Hurria A, Soto-Perez-de-Celis E, Nehoray B, Blankstein KB, Blazer KR, Weitzel JN; Clinical Cancer Genomics Community Research Network.
    • J Am Geriatr Soc. 2019 Apr 23. doi: 10.1111/jgs.15937. [Epub ahead of print]
    • Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.
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    • Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
    • Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Heimbach A, Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N, Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C, Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P.
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    • Prognostic Significance of CHEK2 Mutation in Progression of Breast Cancer.
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    • Review
    • Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.
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    • J Clin Oncol. 2019 Apr 9:JCO1801854. doi: 10.1200/JCO.18.01854. [Epub ahead of print]

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    Press: Genetic Testing Under-Utilized in Ovarian Cancer. (Medscape Oncology)

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    • Metachronous Contralateral Male Breast Cancer: Case Report and Literature Review.
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    • The estrogen receptor-alpha S118P variant does not affect breast cancer incidence or response to endocrine therapies.
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    • A clinically structured and partnered approach to genetic testing in Trinidadian women with breast cancer and their families.
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    • Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
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    • Targeted Resequencing of the Coding Sequence of 38 Genes Near Breast Cancer GWAS Loci in a Large Case-Control Study.
    • Decker B, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Ahmed S, Baynes C, Conroy DM, Brown J, Luben R, Ostrander EA, Pharoah PDP, Dunning AM, Easton DF.
    • Cancer Epidemiol Biomarkers Prev. 2019 Apr;28(4):822-825. doi: 10.1158/1055-9965.EPI-18-0298. Epub 2019 Jan 14.
    • RAD51D splice variants and cancer-associated mutations reveal XRCC2 interaction to be critical for homologous recombination.
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    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
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    • Letter, Case report
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    • TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
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    • High-risk women's risk perception after receiving personalized polygenic breast cancer risk information.
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    • Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.
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    • Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
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    • The SuprMam1 breast cancer susceptibility locus disrupts the vitamin D/ calcium/ parathyroid hormone pathway and alters bone structure in congenic mice.
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    • A 35 Year Old Bangladeshi Lady with Hereditary Mucinous Ovarian Cancer, Complicated with Omental Metastasis.
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    • Breast surgeons recommend genetic testing for all breast cancer patients.
    • [No author given]
    • FORCE. XRAYS. 2019 Mar 25.

    Related:

    Guideline: Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. (PDF) (American Society of Breast Surgeons.)

    • Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature.
    • Suarez-Kelly LP, Yu L, Kline D, Schneider EB, Agnese DM, Carson WE.
    • Hered Cancer Clin Pract. 2019 Mar 25;17:12. doi: 10.1186/s13053-019-0110-z. eCollection 2019.
    • Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
    • Pan ZW, Wang XJ, Chen T, Ding XW, Jiang X, Gao Y, Mo WJ, Huang Y, Lou CJ, Cao WM.
    • Front Oncol. 2019 Mar 22;9:169. doi: 10.3389/fonc.2019.00169. eCollection 2019.
    • Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening.
    • Thompson J, Vogel Postula K, Wong K, Spencer S.
    • J Genet Couns. 2019 Mar 19. doi: 10.1002/jgc4.1118. [Epub ahead of print]
    • Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
    • Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Castéra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, García-Barberán V, Llovet P, Pérez-Segura P, Díaz-Rubio E, Caldés T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A, Investigators K, Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M.
    • J Med Genet. 2019 Mar 19. pii: jmedgenet-2018-105834. doi: 10.1136/jmedgenet-2018-105834. [Epub ahead of print]
    • Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
    • Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H.
    • J Med Genet. 2019 Mar 11. pii: jmedgenet-2018-105824. doi: 10.1136/jmedgenet-2018-105824. [Epub ahead of print]
    • Case report
    • Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
    • Lin PC, Yeh YM, Wu PY, Hsu KF, Chang JY, Shen MR.
    • Sci Rep. 2019 Mar 8;9(1):3931. doi: 10.1038/s41598-019-40571-0.
    • RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
    • Peshkin BN, Isaacs C, Schwartz MD.
    • J Natl Cancer Inst. 2019 Mar 5. pii: djz028. doi: 10.1093/jnci/djz028. [Epub ahead of print]

    Related:

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    Original research:

    Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    • Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.
    • Thibodeau ML, Zhao EY, Reisle C, Ch'ng C, Wong HL, Shen Y, Jones MR, Lim HJ, Young S, Cremin C, Zhang W, Holt R, Eirew P, Karasinska J, Kalloger S, Taylor G, Majounie E, Bonakdar M, Zong Z, Bleile D, Chiu R, Birol I, Gelmon K, Lohrisch C, Mungall KL, Mungall AJ, Moore R, Ma YP, Fok A, Yip S, Karsan A, Huntsman D, Schaeffer DF, Laskin J, Marra MA, Renouf DJ, Jones SJM, Schrader KA.
    • Cold Spring Harb Mol Case Stud. 2019 Mar 4. pii: mcs.a003681. doi: 10.1101/mcs.a003681. [Epub ahead of print]
    • Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
    • Frey MK, Kopparam RV, Ni Zhou Z, Fields JC, Buskwofie A, Carlson AD, Caputo T, Holcomb K, Chapman-Davis E.
    • Cancer. 2019 Mar 1;125(5):690-697. doi: 10.1002/cncr.31856. Epub 2018 Nov 27.
    • Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
    • Fulk K, Milam MR, Li S, Yussuf A, Black MH, Chao EC, LaDuca H, Stany MP.
    • Gynecol Oncol. 2019 Mar;152(3):612-617. doi: 10.1016/j.ygyno.2018.12.021. Epub 2019 Jan 3.
    • The Tumor Suppressor PALB2: Inside Out.
    • Ducy M, Sesma-Sanz L, Guitton-Sert L, Lashgari A, Gao Y, Brahiti N, Rodrigue A, Margaillan G, Caron MC, Côté J, Simard J, Masson JY.
    • Trends Biochem Sci. 2019 Mar;44(3):226-240. doi: 10.1016/j.tibs.2018.10.008. Epub 2019 Jan 10.
    • Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2.
    • Wang X, Brzosowicz JP, Park JY.
    • Genet Med. 2019 Feb 28. doi: 10.1038/s41436-019-0471-8. [Epub ahead of print]
    • Letter, Comment

    Related:

    Original Research:

    MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

    • Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly.
    • Tervasmäki A, Mantere T, Eshraghi L, Laurila N, Tuppurainen H, Ronkainen VP, Koivuluoma S, Devarajan R, Peltoketo H, Pylkäs K.
    • Int J Cancer. 2019 Feb 26. doi: 10.1002/ijc.32234. [Epub ahead of print]
    • Structural debilitation of mutation G322D associated with MSH2 and their role in triple negative breast cancer.
    • Ramireddy S, Raghuraman P, Sudandiradoss C.
    • J Biomol Struct Dyn. 2019 Feb 26:1-16. doi: 10.1080/07391102.2019.1587512. [Epub ahead of print]
    • High-Grade Serous Ovarian Cancer: Basic Sciences, Clinical and Therapeutic Standpoints.
    • Lisio MA, Fu L, Goyeneche A, Gao ZH, Telleria C.
    • Int J Mol Sci. 2019 Feb 22;20(4). pii: E952. doi: 10.3390/ijms20040952.
    • Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?
    • Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL.
    • J Clin Oncol. 2019 Feb 20;37(6):453-460. doi: 10.1200/JCO.18.01631. Epub 2018 Dec 7.

    Related:

    Editorial:

    Advances in Genetic Testing in Patients With Breast Cancer, High-Quality Decision Making, and Responsible Resource Allocation.

    Letter, Commentary:

    Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?

    Letter, Commentary:

    Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.

    Letter, Commentary:

    The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Press: Genetic Testing Misses Half of Women at Risk for Breast Cancer. (Medscape Oncology)

    Commentary: Breast Cancer Genetic Testing Guidelines 'Simply Are Not Effective'. (Medscape Oncology)

    • Genetic Epidemiology of Breast Cancer in Latin America.
    • Zavala VA, Serrano-Gomez SJ, Dutil J, Fejerman L.
    • Genes (Basel). 2019 Feb 18;10(2). pii: E153. doi: 10.3390/genes10020153.
    • Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
    • Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP.
    • Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011.
    • Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics.
    • Hines SL, Mohammad AN, Jackson J, Macklin S, Caulfield TR.
    • Mol Omics. 2019 Feb 11;15(1):59-66. doi: 10.1039/c8mo00137e.
    • Consensus Guideline on Genetic Testing for Hereditary Breast Cancer.
    • Manahan ER, Sebastian M, Hughes KS, Boughey JC, Kuerer HM, Euhus DM, Robson ME, Boolbol SK, Arun BK, Taylor WA.
    • American Society of Breast Surgeons. 2019 Feb 10.

    Related:

    Press: ASBrS Calls for Genetic Testing for All Breast Cancer Patients. (Medscape Oncology)

    News: Breast surgeons recommend genetic testing for all breast cancer patients. (FORCE. XRAYS.)

    • Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
    • Younes N, Zayed H.
    • Gene. 2019 Feb 5;684:154-164. doi: 10.1016/j.gene.2018.10.044. Epub 2018 Oct 22.
    • Review
    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
    • Mehemmai C, Cherbal F, Hamdi Y, Guedioura A, Benbrahim W, Bakour R, Abdelhak S.
    • Pathol Oncol Res. 2019 Feb 4. doi: 10.1007/s12253-019-00586-4. [Epub ahead of print]
    • Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population.
    • Gallardo-Alvarado LN, Tusié-Luna MT, Tussié-Luna MI, Díaz-Chávez J, Segura YX, Bargallo-Rocha E, Villarreal C, Herrera-Montalvo LA, Herrera-Medina EM, Cantu-de Leon DF.
    • BMC Cancer. 2019 Feb 1;19(1):118. doi: 10.1186/s12885-019-5312-2.
    • Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.
    • Buckley MA, Woods NT, Tyrer JP, Mendoza-Fandiño G, Lawrenson K, Hazelett DJ, Najafabadi HS, Gjyshi A, Carvalho RS, Lyra PC Jr, Coetzee SG, Shen HC, Yang AW, Earp MA, Yoder SJ, Risch H, Chenevix-Trench G, Ramus SJ, Phelan CM, Coetzee GA, Noushmehr H, Hughes TR, Sellers TA, Goode EL, Pharoah PD, Gayther SA, Monteiro ANA; Ovarian Cancer Association Consortium.
    • Cancer Res. 2019 Feb 1;79(3):467-481. doi: 10.1158/0008-5472.CAN-17-3864. Epub 2018 Nov 28.
    • Identifying breast cancer susceptibility genes - a review of the genetic background in familial breast cancer.
    • Wendt C, Margolin S.
    • Acta Oncol. 2019 Feb;58(2):135-146. doi: 10.1080/0284186X.2018.1529428. Epub 2019 Jan 3.
    • A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.
    • Velázquez C, Esteban-Cardeñosa EM, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Durán M, Infante M.
    • Breast. 2019 Feb;43:91-96. doi: 10.1016/j.breast.2018.11.010. Epub 2018 Nov 29.
    • The intron 3 16 bp duplication polymorphism of p53 (rs17878362) is not associated with increased risk of developing triple-negative breast cancer.
    • Morten BC, Chiu S, Oldmeadow C, Lubinski J, Scott RJ, Avery-Kiejda KA.
    • Breast Cancer Res Treat. 2019 Feb;173(3):727-733. doi: 10.1007/s10549-018-5039-9. Epub 2018 Nov 14.
    • [Hereditary predisposition to breast cancer (1): genetics].
    • Cohen-Haguenauer O.
    • Med Sci (Paris). 2019 Feb;35(2):138-151. doi: 10.1051/medsci/2019003. Epub 2019 Feb 18.
    • Synchronous endometrioid endometrial and ovarian carcinomas are biologically related: A clinico-pathological and molecular (next generation sequencing) study of 22 cases.
    • Hájková N, Tichá I, Hojný J, Němejcová K, Bártů M, Michálková R, Zikán M, Cibula D, Laco J, Geryk T, Méhes G, Dundr P.
    • Oncol Lett. 2019 Feb;17(2):2207-2214. doi: 10.3892/ol.2018.9855. Epub 2018 Dec 20.
    • Searching for new breast cancer-associated genes. ABRAXAS1 gene mutations in the group of BRCA1-negative patients.
    • Bąk A, Junkiert-Czarnecka A, Heise M, Januchowska D, Krzywińska O, Haus O.
    • Pol J Pathol. 2018 [2019 Jan 31];69(4):342-346. doi: 10.5114/pjp.2018.81693.
    • Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.
    • Yi D, Xu L, Luo J, You X, Huang T, Zi Y, Li X, Wang R, Zhong Z, Tang X, Li A, Shi Y, Rao J, Zhang Y, Sang J.
    • Hum Genomics. 2019 Jan 10;13(1):4. doi: 10.1186/s40246-018-0186-y.
    • Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
    • Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, Mu W, Huether R, Chen J, Sridhar S, Tian Y, McFarland R, Dolinsky J, Tippin Davis B, Mexal S, Dunlop C, Elliott A.
    • JAMA Oncol. 2019 Jan 1;5(1):51-57. doi: 10.1001/jamaoncol.2018.2956.

    Related:

    Commentary:

    Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.
    • Evans DG, Howell SJ, Peltonen J.
    • JAMA Oncol. 2019 Jan 1;5(1):119-120. doi: 10.1001/jamaoncol.2018.6905.
    • Letter, Comment

    Related:

    Original research:

    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
    • Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW.
    • J Natl Cancer Inst. 2019 Jan 1;111(1):95-98. doi: 10.1093/jnci/djy147.

    Related:

    Letter, comment:

    RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    • XRCC2 (X-ray repair cross complementing 2).
    • Andreassen PR, Hanenberg H.
    • Atlas Genet Cytogenet Oncol Haematol. 2019 Jan;23(1):1-7. doi: 10.4267/2042/69759.
    • A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.
    • Yang C, Ceyhan-Birsoy O, Mandelker D, Jairam S, Catchings A, O'Reilly EM, Walsh MF, Zhang L.
    • Breast Cancer Res Treat. 2019 Jan;173(1):79-86. doi: 10.1007/s10549-018-4980-y. Epub 2018 Sep 25.
    • Case report
    • Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations.
    • Ditchi Y, Broudin C, El Dakdouki Y, Muller M, Lavaud P, Caron O, Lejri D, Baynes C, Mathieu MC, Salleron J, Benusiglio PR.
    • Breast J. 2019 Jan;25(1):16-19. doi: 10.1111/tbj.13154. Epub 2018 Nov 9.
    • The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients.
    • Bernstein-Molho R, Laitman Y, Schayek H, Iomdin S, Friedman E.
    • Cancer Causes Control. 2019 Jan;30(1):97-101. doi: 10.1007/s10552-018-1106-0. Epub 2018 Nov 30.
    • Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.
    • Bush L, Aronson M, Tabori U, Campbell BB, Bedgood RB, Jasperson K.
    • Fam Cancer. 2019 Jan;18(1):105-108. doi: 10.1007/s10689-018-0088-0.
    • Response to Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population?
    • ten Broeke SW, Suerink M, Nielsen M.
    • Genet Med. 2019 Jan;21(1):256-257. doi: 10.1038/s41436-018-0029-1. Epub 2018 May 24.
    • Letter

    Related:

    MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

    Letter, Comment:

    Response to ten Broeke et al.

    • Challenges in the identification of inherited risk of ovarian cancer: where should we go from here?
    • Norquist BM.
    • Gynecol Oncol. 2019 Jan;152(1):3-6. doi: 10.1016/j.ygyno.2018.12.003. Epub 2018 Dec 8.
    • Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
    • Castellsagué E, Li R, Aligue R, González S, Sanz J, Martin E, Velasco À, Capellá G, Stewart CJR, Vidal A, Majewski J, Rivera B, Polak P, Matias-Guiu X, Brunet J, Foulkes WD.
    • Hum Mutat. 2019 Jan;40(1):36-41. doi: 10.1002/humu.23676. Epub 2018 Nov 20.
    • The clinical importance of BRCAness in a population-based cohort of Danish epithelial ovarian cancer.
    • Hjortkjær M, Malik Aagaard Jørgensen M, Waldstrøm M, Ørnskov D, Søgaard-Andersen E, Jakobsen A, Dahl-Steffensen K.
    • Int J Gynecol Cancer. 2019 Jan;29(1):166-173. doi: 10.1136/ijgc-2018-000017.
    • Ovarian Clear Cell Carcinoma in Cowden Syndrome.
    • Yauy K, Imbert-Bouteille M, Bubien V, Lindet-Bourgeois C, Rathat G, Perrochia H, MacGrogan G, Longy M, Bessis D, Tinat J, Baert-Desurmont S, Blanluet M, Perre PV, Baudry K, Pujol P, Corsini C.
    • J Natl Compr Canc Netw. 2019 Jan;17(1):7-11. doi: 10.6004/jnccn.2018.7065.
    • Case report
    • Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer.
    • Velázquez C, Esteban-Cardeñosa EM, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Durán M, Infante M.
    • Mol Carcinog. 2019 Jan;58(1):156-160. doi: 10.1002/mc.22910. Epub 2018 Sep 22.
    • Epidemiology of Breast Cancer in Women.
    • Coughlin SS.
    • Adv Exp Med Biol. 2019;1152:9-29. doi: 10.1007/978-3-030-20301-6_2.
    • Review
    • Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing.
    • Hamilton JG, Long JM, Brandt AC, Brower J, Symecko H, Salo-Mullen EE, Christian SN, Harstad T, Couch FJ, Garber JE, Offit K, Robson ME, Domchek SM.
    • JCO Precis Oncol. 2019;3. doi: 10.1200/PO.18.00300. Epub 2019 Mar 28.
    • [Genetic analysis of Japanese patients with Fanconi anemia: novel findings].
    • Mori M, Yabe H, Yabe M, Takata M.
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    • [Article in Japanese]
    • Functional Ex Vivo Assay Reveals Homologous Recombination Deficiency in Breast Cancer Beyond BRCA Gene Defects.
    • Meijer TG, Verkaik NS, Sieuwerts AM, van Riet J, Naipal KAT, van Deurzen CHM, den Bakker MA, Sleddens HFBM, Dubbink HJ, den Toom TD, Dinjens WNM, Lips E, Nederlof PM, Smid M, van de Werken HJG, Kanaar R, Martens JWM, Jager A, van Gent DC.
    • Clin Cancer Res. 2018 Dec 15;24(24):6277-6287. doi: 10.1158/1078-0432.CCR-18-0063. Epub 2018 Aug 23.
    • CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment.
    • Luo W, Fedda F, Lynch P, Tan D.
    • Front Pharmacol. 2018 Dec 5;9:1421. doi: 10.3389/fphar.2018.01421. eCollection 2018.
    • Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.
    • Rizzolo P, Silvestri V, Bucalo A, Zelli V, Valentini V, Catucci I, Zanna I, Masala G, Bianchi S, Spinelli AM, Tommasi S, Tibiletti MG, Russo A, Varesco L, Coppa A, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Radice P, Palli D, Peterlongo P, Ottini L.
    • Front Oncol. 2018 Dec 4;8:583. doi: 10.3389/fonc.2018.00583. eCollection 2018.
    • Variation in RAD51 details a hub of functions: opportunities to advance cancer diagnosis and therapy.
    • van der Zon NL, Kanaar R, Wyman C.
    • Version 2. F1000Res. 2018 Sep 12 [revised 2018 Dec 3];7. pii: F1000 Faculty Rev-1453. doi: 10.12688/f1000research.15650.2. eCollection 2018.
    • Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
    • Lee K, Seifert BA, Shimelis H, Ghosh R, Crowley SB, Carter NJ, Doonanco K, Foreman AK, Ritter DI, Jimenez S, Trapp M, Offit K, Plon SE, Couch FJ.
    • Genet Med. 2018 Dec 3. doi: 10.1038/s41436-018-0361-5. [Epub ahead of print]
    • Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer.
    • Narod SA.
    • JAMA Oncol. 2018 Dec 1;4(12):1787-1788. doi: 10.1001/jamaoncol.2018.4931.
    • Letter, Comment

    Related:

    Original Research:

    Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.

    Letter, reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer—Reply

    • New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer.
    • Castillo-Guardiola V, Sarabia-Meseguer MD, Marín-Vera M, Sánchez-Bermúdez AI, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Cancer Genet. 2018 Dec;228-229:1-4. doi: 10.1016/j.cancergen.2018.06.002. Epub 2018 Jun 23.
    • Case report
    • Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data.
    • van Marcke C, Collard A, Vikkula M, Duhoux FP.
    • Crit Rev Oncol Hematol. 2018 Dec;132:138-144. doi: 10.1016/j.critrevonc.2018.09.009. Epub 2018 Sep 14.
    • Review
    • A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation.
    • Castroviejo-Bermejo M, Cruz C, Llop-Guevara A, Gutiérrez-Enríquez S, Ducy M, Ibrahim YH, Gris-Oliver A, Pellegrino B, Bruna A, Guzmán M, Rodríguez O, Grueso J, Bonache S, Moles-Fernández A, Villacampa G, Viaplana C, Gómez P, Vidal M, Peg V, Serres-Créixams X, Dellaire G, Simard J, Nuciforo P, Rubio IT, Dientsmann R, Barrett JC, Caldas C, Baselga J, Saura C, Cortés J, Déas O, Jonkers J, Masson JY, Cairo S, Judde JG, O'Connor MJ, Díez O, Balmaña J, Serra V.
    • EMBO Mol Med. 2018 Dec;10(12). pii: e9172. doi: 10.15252/emmm.201809172.
    • Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
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    • Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.
    • Germline pathogenic variants identified in women with ovarian tumors.
    • Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS.
    • Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12.
    • Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome.
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    • Hum Mutat. 2018 Dec;39(12):1764-1773. doi: 10.1002/humu.23656. Epub 2018 Oct 3.
    • Review
    • Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.
    • Weber-Lassalle K, Harter P, Hauke J, Ernst C, Kommoss S, Marmé F, Weber-Lassalle N, Prieske K, Dietrich D, Borde J, Pohl-Rescigno E, Reuss A, Ataseven B, Engel C, Stingl JC, Schmutzler RK, Hahnen E.
    • Hum Mutat. 2018 Dec;39(12):2040-2046. doi: 10.1002/humu.23653. Epub 2018 Oct 3.
    • Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population.
    • Meiss AE, Thomas M, Modesitt SC, Ring KL, Atkins KA, Mills AM.
    • Hum Pathol. 2018 Dec;82:20-31. doi: 10.1016/j.humpath.2018.06.024. Epub 2018 Jun 26.
    • Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.
    • Nielsen SM, De Simone LM, Olopade OI.
    • J Genet Couns. 2018 Dec;27(6):1405-1410. doi: 10.1007/s10897-018-0269-x. Epub 2018 Jun 26.
    • Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
    • Koczkowska M, Krawczynska N, Stukan M, Kuzniacka A, Brozek I, Sniadecki M, Debniak J, Wydra D, Biernat W, Kozlowski P, Limon J, Wasag B, Ratajska M.
    • Cancers (Basel). 2018 Nov 14;10(11). pii: E442. doi: 10.3390/cancers10110442.
    • Defective DNA repair in hereditary ovarian cancers: Implications for therapy.
    • Burgess BT, Kolesar JM.
    • Am J Health Syst Pharm. 2018 Nov 1;75(21):1697-1707. doi: 10.2146/ajhp180124. Epub 2018 Sep 18.
    • Review
    • Differential Burden of Rare and Common Variants on Tumor Characteristics, Survival, and Mode of Detection in Breast Cancer.
    • Li J, Ugalde-Morales E, Wen WX, Decker B, Eriksson M, Torstensson A, Christensen HN, Dunning AM, Allen J, Luccarini C, Pooley KA, Simard J, Dorling L, Easton DF, Teo SH, Hall P, Czene K.
    • Cancer Res. 2018 Nov 1;78(21):6329-6338. doi: 10.1158/0008-5472.CAN-18-1018.
    • [PALB2, a major susceptibility gene for breast cancer].
    • Piffer A, Luporsi E, Mathelin C.
    • Gynecol Obstet Fertil Senol. 2018 Nov;46(10-11):701-705. doi: 10.1016/j.gofs.2018.08.006. Epub 2018 Sep 19.
    • Review, [Article in French]
    • Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
    • Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R.
    • Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650.
    • Clinical Activity of Olaparib in Urothelial Bladder Cancer With DNA Damage Response Gene Mutations.
    • Sweis RF, Heiss B, Segal J, Ritterhouse L, Kadri S, Churpek JE, Allen K, Conway D, Marinier C, Smith ND, Pitroda SP, Stadler WM.
    • JCO Precis Oncol. 2018 Nov;2:1-7. doi: 10.1200/PO.18.00264.
    • Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.
    • Konstanta I, Fostira F, Apostolou P, Stratikos E, Kalfakakou D, Pampanos A, Kollia P, Papadimitriou C, Konstantopoulou I, Yannoukakos D.
    • J Hum Genet. 2018 Nov;63(11):1149-1158. doi: 10.1038/s10038-018-0498-8. Epub 2018 Aug 15.
    • Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
    • Cox DM, Nelson KL, Clytone M, Collins DL.
    • Mol Genet Genomic Med. 2018 Nov;6(6):1236-1242. doi: 10.1002/mgg3.460. Epub 2018 Aug 27.
    • The Importance of Distinguishing Sporadic Cancers from Those Related to Cancer Predisposing Germline Mutations.
    • Sorscher S.
    • Oncologist. 2018 Nov;23(11):1266-1268. doi: 10.1634/theoncologist.2017-0681. Epub 2018 Jun 4.
    • Case report
    • Meta-Analysis of Association between PALB2 Polymorphisms and Breast Cancer.
    • Dianatpour A, Faramarzi S, Ghafouri-Fard S.
    • Asian Pac J Cancer Prev. 2018 Oct 26;19(10):2897-2903.
    • Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
    • Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmaña J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lázaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Törngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gómez-García EB.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00091. Epub 2018 Oct 26.
    • Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
    • Caleca L, Catucci I, Figlioli G, De Cecco L, Pesaran T, Ward M, Volorio S, Falanga A, Marchetti M, Iascone M, Tondini C, Zambelli A, Azzollini J, Manoukian S, Radice P, Peterlongo P.
    • Front Oncol. 2018 Oct 25;8:480. doi: 10.3389/fonc.2018.00480. eCollection 2018.
    • BRCA1 methylation in newborns: genetic disposition, maternal transfer, environmental influence, or by chance only?
    • Lønning PE, Knappskog S.
    • Clin Epigenetics. 2018 Oct 22;10(1):128. doi: 10.1186/s13148-018-0566-0.

    Related:

    Original research:

    Methylation of BRCA1 and MGMT genes in white blood cells are transmitted from mothers to daughters.

    • A Devastatingly "Minor" Relationship Between Male Breast Cancer and Prostate Cancer.
    • Kolli S, Asarian A, Genato R, Xiao P.
    • Cureus. 2018 Oct 17;10(10):e3463. doi: 10.7759/cureus.3463.
    • RAD50 germline mutations are associated with poor survival in BRCA1/2-negative breast cancer patients.
    • Fan C, Zhang J, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Int J Cancer. 2018 Oct 15;143(8):1935-1942. doi: 10.1002/ijc.31579. Epub 2018 Jul 26.
    • BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts.
    • Lee JY, Kim J, Kim , Park SK, Ahn SH, Lee MH, Suh YJ, Noh DY, Son BH, Cho YU, Lee SB, Lee JW, Hopper JL, Sung J.
    • Sci Rep. 2018 Oct 15;8(1):15263. doi: 10.1038/s41598-018-31859-8.
    • Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.
    • Benusiglio PR, Coulet F.
    • Gynecol Oncol Rep. 2018 Oct 12;26:69-70. doi: 10.1016/j.gore.2018.10.005. eCollection 2018 Nov.

    Related:

    Original research:

    Characteristics of Lynch syndrome associated ovarian cancer.

    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
    • Fahiminiya S, Sabbaghian N, Albrecht S, Nadaf J, Callegaro-Filho D, Foulkes WD.
    • Fam Cancer. 2018 Oct 4. doi: 10.1007/s10689-018-0108-0. [Epub ahead of print]
    • Case report
    • Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
    • Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.
    • Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.
    • The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.
    • Brovkina OI, Shigapova L, Chudakova DA, Gordiev MG, Enikeev RF, Druzhkov MO, Khodyrev DS, Shagimardanova EI, Nikitin AG, Gusev OA.
    • Front Oncol. 2018 Oct 2;8:421. doi: 10.3389/fonc.2018.00421. eCollection 2018.
    • Associations between RAD51D germline mutations and breast cancer risk and survival in BRCA1/2-negative breast cancers.
    • Chen X, Li Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Ann Oncol. 2018 Oct 1;29(10):2046-2051. doi: 10.1093/annonc/mdy338.
    • Inherited Breast Cancer in Nigerian Women.
    • Zheng Y, Walsh T, Gulsuner S, Casadei S, Lee MK, Ogundiran TO, Ademola A, Falusi AG, Adebamowo CA, Oluwasola AO, Adeoye A, Odetunde A, Babalola CP, Ojengbede OA, Odedina S, Anetor I, Wang S, Huo D, Yoshimatsu TF, Zhang J, Felix GES, King MC, Olopade OI.
    • J Clin Oncol. 2018 Oct 1;36(28):2820-2825. doi: 10.1200/JCO.2018.78.3977. Epub 2018 Aug 21.

    Related:

    Research News: Inherited breast cancer in Nigerian women. (FORCE XRAYS)

    • Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.
    • Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
    • J Natl Cancer Inst. 2018 Oct 1;110(10):1059-1066. doi: 10.1093/jnci/djy027.

    Related:

    Introductory article, Editorial:

    The Ancestral Pace of Variant Reclassification.

    Related:

    Full text: Prospective Study of Cancer Genetic Variants — Variation in Rate of Reclassification by Ancestry (Medscape Oncology)

    • PALB2 germ-line mutations in Russian breast cancer patients: Identification of recurrent alleles and analysis of phenotypic characteristics of the tumors.
    • Imyanitov EN, Preobrazhenskaya EV, Shlejkina AY, Sokolenko AP, Anisimova EI, Ivantsov AO, Togo AV.
    • Ann Oncol. 2018 Oct;29 Suppl 8:viii76. doi: 10.1093/annonc/mdy270.234.
    • Conference abstract
    • Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience.
    • Rust K, Spiliopoulou P, Tang CY, Bell C, Stirling D, Phang T, Davidson R, Mackean M, Nussey F, Glasspool RM, Reed NS, Sadozye A, Porteous M, McGoldrick T, Ferguson M, Miedzybrodzka Z, McNeish IA, Gourley C.
    • BJOG. 2018 Oct;125(11):1451-1458. doi: 10.1111/1471-0528.15171. Epub 2018 May 10.

    Related:

    Commentary:

    Population based testing of non-mucinous epithelial ovarian cancer in Scotland

    • Breast cancer in women with neurofibromatosis type 1 (NF1): a comprehensive case series with molecular insights into its aggressive phenotype.
    • Yap YS, Munusamy P, Lim C, Chan CHT, Prawira A, Loke SY, Lim SH, Ong KW, Yong WS, Ng SBH, Tan IBH, Callen DF, Lim JCT, Thike AA, Tan PH, Lee ASG.
    • Breast Cancer Res Treat. 2018 Oct;171(3):719-735. doi: 10.1007/s10549-018-4851-6. Epub 2018 Jun 21.
    • Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.
    • Wang X, Kallionpää RA, Gonzales PR, Chitale DA, Tousignant RN, Crowley JP, Chen Z, Yoder SJ, Blakeley JO, Acosta MT, Korf BR, Messiaen LM, Tainsky MA.
    • Cancer Prev Res (Phila). 2018 Oct;11(10):655-664. doi: 10.1158/1940-6207.CAPR-18-0072. Epub 2018 Aug 13
    • Mutations in context: implications of BRCA testing in diverse populations.
    • Felix GES, Zheng Y, Olopade OI.
    • Fam Cancer. 2018 Oct;17(4):471-483. doi: 10.1007/s10689-017-0038-2.
    • Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.
    • West AH, Blazer KR, Stoll J, Jones M, Weipert CM, Nielsen SM, Kupfer SS, Weitzel JN, Olopade OI.
    • Fam Cancer. 2018 Oct;17(4):495-505. doi: 10.1007/s10689-018-0070-x.
    • MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.
    • Roberts ME, Jackson SA, Susswein LR, Zeinomar N, Ma X, Marshall ML, Stettner AR, Milewski B, Xu Z, Solomon BD, Terry MB, Hruska KS, Klein RT, Chung WK.
    • Genet Med. 2018 Oct;20(10):1167-1174. doi: 10.1038/gim.2017.254. Epub 2018 Jan 18.

    Related:

    Letter: Response to Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population? (Genetics in Medicine)

    Letter, Reply: Response to ten Broeke et al. (Genetics in Medicine)

    Letter: Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2. (Genetics in Medicine)

    Letter: Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer? (Genetics in Medicine)

    Research news: Mutations in Lynch syndrome genes MSH6 and PMS2 are associated with breast cancer. (FORCE: XRAYS)

    • Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.
    • Aravind Kumar M, Naushad SM, Narasimgu N, Nagaraju Naik S, Kadali S, Shanker U, Lakshmi Narasu M.
    • Mol Biol Rep. 2018 Oct;45(5):1413-1419. doi: 10.1007/s11033-018-4307-4. Epub 2018 Aug 22.
    • Mutations in RECQL are not associated with breast cancer risk in an Australian population.
    • Li N, Rowley SM, Goode DL, Amarasinghe KC, McInerny S, Devereux L; LifePool Investigators, Wong-Brown MW, Lupat R, Lee JEA, Hughes S, Thompson ER, Zethoven M, Li J, Trainer AH, Gorringe KL, Scott RJ, James PA, Campbell IG.
    • Nat Genet. 2018 Oct;50(10):1346-1348. doi: 10.1038/s41588-018-0206-9.
    • Letter

    Related:

    Letter, Reply:

    Reply to ‘Mutations in RECQL are not associated with breast cancer risk in an Australian population’.

    • Treatment with olaparib monotherapy for BRCA2-mutated refractory intrahepatic cholangiocarcinoma: a case report.
    • Cheng Y, Zhang J, Qin SK, Hua HQ.
    • Onco Targets Ther. 2018 Sep 18;11:5957-5962. doi: 10.2147/OTT.S176914. eCollection 2018.
    • Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients.
    • Böck J, Appenzeller S, Haertle L, Schneider T, Gehrig A, Schröder J, Rost S, Wolf B, Bartram CR, Sutter C, Haaf T.
    • Int J Cancer. 2018 Sep 15;143(6):1416-1425. doi: 10.1002/ijc.31526. Epub 2018 Apr 25.
    • Co-occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes.
    • Larouche V, Akirov A, Thain E, Kim RH, Ezzat S.
    • Endocrinol Diabetes Metab. 2019 Sep 8;2(4):e00092. doi: 10.1002/edm2.92. eCollection 2019 Oct.
    • The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.
    • Weigelt B, Bi R, Kumar R, Blecua P, Mandelker DL, Geyer FC, Pareja F, James PA; kConFab Investigators, Couch FJ, Eccles DM, Blows F, Pharoah P, Li A, Selenica P, Lim RS, Jayakumaran G, Waddell N, Shen R, Norton L, Wen HY, Powell SN, Riaz N, Robson ME, Reis-Filho JS, Chenevix-Trench G.
    • J Natl Cancer Inst. 2018 Sep 1;110(9):1030-1034. doi: 10.1093/jnci/djy028.
    • Germline Variation and Breast Cancer Incidence: A Gene-Based Association Study and Whole-Genome Prediction of Early-Onset Breast Cancer.
    • Scannell Bryan M, Argos M, Andrulis IL, Hopper JL, Chang-Claude J, Malone KE, John EM, Gammon MD, Daly MB, Terry MB, Buys SS, Huo D, Olopade OI, Genkinger JM, Whittemore AS, Jasmine F, Kibriya MG, Chen LS, Ahsan H.
    • Cancer Epidemiol Biomarkers Prev. 2018 Sep;27(9):1057-1064. doi: 10.1158/1055-9965.EPI-17-1185. Epub 2018 Jun 13.
    • Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations.
    • Zhu X, Tian T, Ruan M, Rao J, Yang W, Cai X, Sun M, Qin G, Zhao Z, Wu J, Shao Z, Shui R, Hu Z.
    • J Breast Cancer. 2018 Sep;21(3):297-305. doi: 10.4048/jbc.2018.21.e38. Epub 2018 Sep 12.
    • Cancer genetics, precision prevention and a call to action.
    • Turnbull C, Sud A, Houlston RS
    • Nat Genet. 2018 Sep;50(9):1212-1218. doi: 10.1038/s41588-018-0202-0. Epub 2018 Aug 29.
    • Commentary

    Related:

    Editorial:

    GPS for navigating healthcare.

    • Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
    • Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S.
    • Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z. Epub 2018 Aug 13.

    Related:

    Editorial:

    GPS for navigating healthcare.

    • Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.
    • Sharma-Oates A, Shaaban AM, Tomlinson I, Wynne L, Cazier JB, Sundar S.
    • Precis Clin Med. 2018 Sep;1(2):75-87. doi: 10.1093/pcmedi/pby010. Epub 2018 Sep 22.
    • Surgery for BRCA, TP53 and PALB2: a literature review.
    • Song CV, Teo SH, Taib NA, Yip CH.
    • Ecancermedicalscience. 2018 Aug 29;12:863. doi: 10.3332/ecancer.2018.863. eCollection 2018.
    • Breast Cancer Surgical Risk Reduction for Patients With Inherited Mutations in Moderate Penetrance Genes.
    • Weiss A, Garber JE, King T.
    • JAMA Surg. 2018 Aug 29. doi: 10.1001/jamasurg.2018.2493. [Epub ahead of print]
    • Review
    • Homologous recombination deficiency in ovarian cancer: a review of its epidemiology and management.
    • da Cunha Colombo Bonadio RR, Fogace RN, Miranda VC, Diz MDPE.
    • Clinics (Sao Paulo). 2018 Aug 20;73(suppl 1):e450s. doi: 10.6061/clinics/2018/e450s.
    • Breast cancer in the GCC countries: A focus on BRCA1/2 and non-BRCA1/2 genes.
    • Rahman S, Zayed H.
    • Gene. 2018 Aug 20;668:73-76. doi: 10.1016/j.gene.2018.05.045. Epub 2018 May 17.
    • Review
    • Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
    • Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D.
    • Breast Cancer Res. 2018 Aug 7;20(1):87. doi: 10.1186/s13058-018-1011-1.
    • Elucidating the Underlying Functional Mechanisms of Breast Cancer Susceptibility Through Post-GWAS Analyses.
    • Rivandi M, Martens JWM, Hollestelle A.
    • Front Genet. 2018 Aug 2;9:280. doi: 10.3389/fgene.2018.00280. eCollection 2018.
    • A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.
    • Krempely K, Karam R.
    • Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a003012. doi: 10.1101/mcs.a003012. Print 2018 Aug.
    • Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.
    • Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):863-870. doi: 10.1093/jnci/djy001.

    Related:

    Editorial:

    Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.

    • Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature.
    • Ghilli M, Mariniello MD, Scatena C, Dosa L, Traficante G, Tamburini A, Caporalini C, Buccoliero AM, Facchini F, Colizzi L, Quattrini Li A, Landucci E, Manca G, Naccarato AG, Caramella D, Favre C, Roncella M.
    • Breast Cancer Res Treat. 2018 Aug;170(3):445-454. doi: 10.1007/s10549-018-4772-4. Epub 2018 Apr 3.
    • Review
    • Characteristics of Lynch syndrome associated ovarian cancer.
    • Woolderink JM, De Bock GH, de Hullu JA, Hollema H, Zweemer RP, Slangen BFM, Gaarenstroom KN, van Beurden M, van Doorn HC, Sijmons RH, Vasen HFA, Mourits MJE.
    • Gynecol Oncol. 2018 Aug;150(2):324-330. doi: 10.1016/j.ygyno.2018.03.060. Epub 2018 Jun 5.

    Related:

    Letter, Commentary:

    Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.

    • Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis.
    • Liang M, Zhang Y, Sun C, Rizeq FK, Min M, Shi T, Sun Y.
    • Mol Diagn Ther. 2018 Aug;22(4):397-407. doi: 10.1007/s40291-018-0344-x.
    • Review
    • Methylation Profiles of BRCA1, RASSF1A and GSTP1 in Vietnamese Women with Breast Cancer.
    • Vu TL, Nguyen TT, Doan VTH, Vo LTT.
    • Asian Pac J Cancer Prev. 2018 Jul 27;19(7):1887-1893.
    • Methylation of BRCA1 and MGMT genes in white blood cells are transmitted from mothers to daughters.
    • Al-Moghrabi N, Al-Showimi M, Al-Yousef N, Al-Shahrani B, Karakas B, Alghofaili L, Almubarak H, Madkhali S, Al Humaidan H.
    • Clin Epigenetics. 2018 Jul 26;10(1):99. doi: 10.1186/s13148-018-0529-5.

    Related:

    Letter, Commentary:

    BRCA1 methylation in newborns: genetic disposition, maternal transfer, environmental influence, or by chance only?

    • The National Comprehensive Cancer Network (NCCN) Guidelines Have Been Updated: Here is What You Need to Know.
    • [No author given]
    • My Gene Counsel. 2018 Jul 23.

    Related:

    Guidelines: NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) — Genetic/Familial High-Risk Assessment: Breast and Ovarian (PDF) (NCCN.org)

    • Therapeutic landscape in mutational triple negative breast cancer.
    • Shi Y, Jin J, Ji W, Guan X.
    • Mol Cancer. 2018 Jul 14;17(1):99. doi: 10.1186/s12943-018-0850-9.
    • NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) — Genetic/Familial High-Risk Assessment: Breast and Ovarian
    • Daly MB, Pilarski R, Berry M, Buys SS, Friedman S, Garber JE, Hutton ML, Kauff ND, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton JK, Madlensky L, Mac JS, Merajver SD, Offit K, Pal T, Peterson HJ, Reiser G, Shannon KM, Thaker P, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Darlow S.
    • NCCN.org. 2018 Jul 11. Version 1.2019.
    • Breast cancer in an 18-year-old female: A fatal case report and literature review.
    • Jóźwik M, Posmyk R, Jóźwik M, Semczuk A, Gogiel-Shields M, Kuś-Słowińska M, Garbowicz M, Klukowski M, Wojciechowicz J.
    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
    • Narod S, Sopik V, Cybulski C.
    • JAMA Oncol. 2018 Jul 1;4(7):1012. doi: 10.1001/jamaoncol.2018.0595.
    • Letter

    Related:

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    Letter, Reply:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply.

    • Mutational analysis of candidate genes in Israeli male breast cancer cases.
    • Schayek H, Korach H, Laitman Y, Bernstein-Molho R, Friedman E.
    • Breast Cancer Res Treat. 2018 Jul;170(2):399-404. doi: 10.1007/s10549-018-4765-3. Epub 2018 Mar 21.
    • Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations.
    • Azzollini J, Mariani M, Peissel B, Manoukian S.
    • Fam Cancer. 2018 Jul;17(3):317-319. doi: 10.1007/s10689-017-0020-z.

    Related:

    Next generation sequencing is informing phenotype: a TP53 example.

    • Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.
    • Myszka A, Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC.
    • Fam Cancer. 2018 Jul;17(3):345-349. doi: 10.1007/s10689-017-0050-6.
    • Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.
    • Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G; Mallorca Group.
    • Gut. 2018 Jul;67(7):1306-1316. doi: 10.1136/gutjnl-2017-314057. Epub 2017 Jul 28.
    • Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients.
    • Apostolou P, Fostira F, Mollaki V, Delimitsou A, Vlassi M, Pentheroudakis G, Faliakou E, Kollia P, Fountzilas G, Yannoukakos D, Konstantopoulou I.
    • J Hum Genet. 2018 Jul;63(8):877-886. doi: 10.1038/s10038-018-0466-3. Epub 2018 May 22.
    • Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.
    • Corso G, Figueiredo J, La Vecchia C, Veronesi P, Pravettoni G, Macis D, Karam R, Lo Gullo R, Provenzano E, Toesca A, Mazzocco K, Carneiro F, Seruca R, Melo S, Schmitt F, Roviello F, De Scalzi AM, Intra M, Feroce I, De Camilli E, Villardita MG, Trentin C, De Lorenzi F, Bonanni B, Galimberti V.
    • J Med Genet. 2018 Jul;55(7):431-441. doi: 10.1136/jmedgenet-2018-105337. Epub 2018 Jun 21.
    • Review
    • Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.
    • Fewings E, Larionov A, Redman J, Goldgraben MA, Scarth J, Richardson S, Brewer C, Davidson R, Ellis I, Evans DG, Halliday D, Izatt L, Marks P, McConnell V, Verbist L, Mayes R, Clark GR, Hadfield J, Chin SF, Teixeira MR, Giger OT, Hardwick R, di Pietro M, O'Donovan M, Pharoah P, Caldas C, Fitzgerald RC, Tischkowitz M.
    • Lancet Gastroenterol Hepatol. 2018 Jul;3(7):489-498. doi: 10.1016/S2468-1253(18)30079-7. Epub 2018 Apr 27.

    Related:

    Commentary:

    PALB2 as a familial gastric cancer gene: is the wait over?

    • A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
    • Wu L, Shi W, Long J, Guo X, Michailidou K, Beesley J, Bolla MK, Shu XO, Lu Y, Cai Q, Al-Ejeh F, Rozali E, Wang Q, Dennis J, Li B, Zeng C, Feng H, Gusev A, Barfield RT, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Barrdahl M, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brinton L, Broberg P, Brucker SY, Burwinkel B, Caldés T, Canzian F, Carter BD, Castelao JE, Chang-Claude J, Chen X, Cheng TD, Christiansen H, Clarke CL; NBCS Collaborators, Collée M, Cornelissen S, Couch FJ, Cox D, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Devilee P, Doheny KF, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Eccles DM, Eilber U, Eliassen AH, Engel C, Eriksson M, Fachal L, Fasching PA, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-Closas M, Gaudet MM, Ghoussaini M, Giles GG, Goldberg MS, Goldgar DE, González-Neira A, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hallberg E, Hamann U, Harrington P, Hein A, Hicks B, Hillemanns P, Hollestelle A, Hoover RN, Hopper JL, Huang G, Humphreys K, Hunter DJ, Jakubowska A, Janni W, John EM, Johnson N, Jones K, Jones ME, Jung A, Kaaks R, Kerin MJ, Khusnutdinova E, Kosma VM, Kristensen VN, Lambrechts D, Le Marchand L, Li J, Lindström S, Lissowska J, Lo WY, Loibl S, Lubinski J, Luccarini C, Lux MP, MacInnis RJ, Maishman T, Kostovska IM, Mannermaa A, Manson JE, Margolin S, Mavroudis D, Meijers-Heijboer H, Meindl A, Menon U, Meyer J, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Nielsen SF, Nordestgaard BG, Olopade OI, Olson JE, Olsson H, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prentice R, Presneau N, Pylkäs K, Rack B, Radice P, Rahman N, Rennert G, Rennert HS, Rhenius V, Romero A, Romm J, Rudolph A, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Scott RJ, Scott CG, Seal S, Shah M, Shrubsole MJ, Smeets A, Southey MC, Spinelli JJ, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper W, Taylor JA, Terry MB, Tessier DC, Thomas A, Thöne K, Tollenaar RAEM, Torres D, Truong T, Untch M, Vachon C, Van Den Berg D, Vincent D, Waisfisz Q, Weinberg CR, Wendt C, Whittemore AS, Wildiers H, Willett WC, Winqvist R, Wolk A, Xia L, Yang XR, Ziogas A, Ziv E; kConFab/AOCS Investigators, Dunning AM, Pharoah PDP, Simard J, Milne RL, Edwards SL, Kraft P, Easton DF, Chenevix-Trench G, Zheng W.
    • Nat Genet. 2018 Jul;50(7):968-978. doi: 10.1038/s41588-018-0132-x. Epub 2018 Jun 18.

    Related:

    Press: Breast Cancer TWAS Uncovers 14 New Candidate Risk Genes. (Clinical OMICs)

    • Association of Germline PALB2 Mutation and Response to Platinum-Based Chemotherapy in Metastatic Breast Cancer: A Case Series.
    • Isaac D, Karapetyan L, Tamkus D.
    • JCO Precis Oncol. 2018 Nov [2018 Jun 26];2:1-5. doi: 10.1200/PO.17.00258.
    • Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.
    • Riahi A, Radmanesh H, Schürmann P, Bogdanova N, Geffers R, Meddeb R, Kharrat M, Dörk T.
    • Int J Cancer. 2018 Jun 15;142(12):2512-2517. doi: 10.1002/ijc.31273. Epub 2018 Feb 5.
    • Mutations in Lynch syndrome genes MSH6 and PMS2 are associated with breast cancer.
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 14.

    Related:

    MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

    • Genetic alterations detected by comparative genomic hybridization in BRCAX breast and ovarian cancers of Brazilian population.
    • Felicio PS, Bidinotto LT, Melendez ME, Grasel RS, Campacci N, Galvão HCR, Scapulatempo-Neto C, Dufloth RM, Evangelista AF, Palmero EI.
    • Oncotarget. 2018 Jun 8;9(44):27525-27534. doi: 10.18632/oncotarget.25537. eCollection 2018 Jun 8.
    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

    Related:

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)

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    • Breast Cancer Res. 2018 Jun 5;20(1):45. doi: 10.1186/s13058-018-0964-4.
    • Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer.
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    • Int J Cancer. 2018 Jun 1;142(11):2286-2292. doi: 10.1002/ijc.31259. Epub 2018 Jan 31.
    • Reparameterization of PAM50 Expression Identifies Novel Breast Tumor Dimensions and Leads to Discovery of a Genome-Wide Significant Breast Cancer Locus at 12q15.
    • Madsen MJ, Knight S, Sweeney C, Factor R, Salama M, Stijleman IJ, Rajamanickam V, Welm BE, Arunachalam S, Jones B, Rachamadugu R, Rowe K, Cessna MH, Thomas A, Kushi LH, Caan BJ, Bernard PS, Camp NJ.
    • Cancer Epidemiol Biomarkers Prev. 2018 Jun;27(6):644-652. doi: 10.1158/1055-9965.EPI-17-0887. Epub 2018 Apr 12.
    • Cancer gene-panel testing identifies two loss-of-function alleles in PALB2 and PTEN.
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    • Letter, Case report
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    • Sánchez-Bermúdez AI, Sarabia-Meseguer MD, García-Aliaga Á, Marín-Vera M, Macías-Cerrolaza JA, Henaréjos PS, Guardiola-Castillo V, Peña FA, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Eur J Med Genet. 2018 Jun;61(6):355-361. doi: 10.1016/j.ejmg.2018.01.015. Epub 2018 Feb 2.
    • Mutations in BRCA1, BRCA2, and PALB2, and a panel of 50 cancer-associated genes in pancreatic ductal adenocarcinoma.
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    • Sci Rep. 2018 May 25;8(1):8105. doi: 10.1038/s41598-018-26526-x.
    • Study on the Mechanism of Cell Cycle Checkpoint Kinase 2 (CHEK2) Gene Dysfunction in Chemotherapeutic Drug Resistance of Triple Negative Breast Cancer Cells.
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    • Med Sci Monit. 2018 May 15;24:3176-3183. doi: 10.12659/MSM.907256.
    • Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
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    • Front Genet. 2018 May 7;9:161. doi: 10.3389/fgene.2018.00161. eCollection 2018.
    • MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer.
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    • Clinical criteria revision for hereditary lobular breast cancer associated with E-cadherin germline mutations.
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    • Editorial, Review
    • Identification and analysis of CHEK2 germline mutations in Chinese BRCA1/2-negative breast cancer patients.
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    • Breast Cancer Res Treat. 2018 May;169(1):59-67. doi: 10.1007/s10549-018-4673-6. Epub 2018 Jan 22.
    • Invasive breast carcinomas with ATM gene variants of uncertain significance share distinct histopathologic features.
    • Abdulrahman AA, Heintzelman RC, Corbman M, Garcia FU.
    • Breast J. 2018 May;24(3):291-297. doi: 10.1111/tbj.12930. Epub 2017 Oct 7.
    • Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.
    • Wunderle M, Olmes G, Nabieva N, Häberle L, Jud SM, Hein A, Rauh C, Hack CC, Erber R, Ekici AB, Hoyer J, Vasileiou G, Kraus C, Reis A, Hartmann A, Schulz-Wendtland R, Lux MP, Beckmann MW, Fasching PA.
    • Geburtshilfe Frauenheilkd. 2018 May;78(5):481-492. doi: 10.1055/a-0603-4350. Epub 2018 Jun 4.
    • Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.
    • Barrington DA, Champion ML, Boitano TKL, Walters-Haygood CL, Farmer MB, Alvarez RD, Estes JM, Leath CA 3rd.
    • Gynecol Oncol. 2018 May;149(2):337-340. doi: 10.1016/j.ygyno.2018.02.014. Epub 2018 Mar 2.
    • Small cell cancers of the female genital tract: Molecular and clinical aspects.
    • Patibandla JR, Fehniger JE, Levine DA, Jelinic P.
    • Gynecol Oncol. 2018 May;149(2):420-427. doi: 10.1016/j.ygyno.2018.02.004. Epub 2018 Feb 17.
    • Review
    • Molecular analysis of PALB2 associated breast cancers.
    • Lee JEA, Li N, Rowley SM, Cheasley D, Zethoven M, McInerny S, Gorringe KL, James PA, Campbell IG.
    • J Pathol. 2018 May;245(1):53-60. doi: 10.1002/path.5055. Epub 2018 Mar 30.
    • Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies.
    • Pande M, Joon A, Brewster AM, Chen WV, Hopper JL, Eng C, Shete S, Casey G, Schumacher F, Lin Y, Harrison TA, White E, Ahsan H, Andrulis IL, Whittemore AS, John EM, Ko Win A, Makalic E, Schmidt DF, Kapuscinski MK, Ochs-Balcom HM, Gallinger S, Jenkins MA, Newcomb PA, Lindor NM, Peters U, Amos CI, Lynch PM.
    • PLoS One. 2018 Apr 26;13(4):e0196245. doi: 10.1371/journal.pone.0196245. eCollection 2018.
    • Tumor development in Japanese patients with Lynch syndrome.
    • Saita C, Yamaguchi T, Horiguchi SI, Yamada R, Takao M, Iijima T, Wakaume R, Aruga T, Tabata T, Koizumi K.
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    • Common genetic variation and novel loci associated with volumetric mammographic density.
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    • Breast Cancer Res. 2018 Apr 17;20(1):30. doi: 10.1186/s13058-018-0954-6.
    • Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
    • Renault AL, Mebirouk N, Fuhrmann L, Bataillon G, Cavaciuti E, Le Gal D, Girard E, Popova T, La Rosa P, Beauvallet J, Eon-Marchais S, Dondon MG, d'Enghien CD, Laugé A, Chemlali W, Raynal V, Labbé M, Bièche I, Baulande S, Bay JO, Berthet P, Caron O, Buecher B, Faivre L, Fresnay M, Gauthier-Villars M, Gesta P, Janin N, Lejeune S, Maugard C, Moutton S, Venat-Bouvet L, Zattara H, Fricker JP, Gladieff L, Coupier I; CoF-AT; GENESIS; kConFab, Chenevix-Trench G, Hall J, Vincent-Salomon A, Stoppa-Lyonnet D, Andrieu N, Lesueur F.
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    • Association between homologous recombination repair gene mutations and response to oxaliplatin in pancreatic cancer.
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    • Pathogenic Germline Variants in 10,389 Adult Cancers.
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    • Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
    • BRCA1/2 and TP53 mutation status associates with PD-1 and PD-L1 expression in ovarian cancer.
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    • Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
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    • Integrative Genomic Analysis Predicts Causative Cis-Regulatory Mechanisms of the Breast Cancer-Associated Genetic Variant rs4415084.
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    • Recent Topics Around Multiple Endocrine Neoplasia Type 1.
    • Marx SJ.
    • J Clin Endocrinol Metab. 2018 Apr 1;103(4):1296-1301. doi: 10.1210/jc.2017-02340.
    • Mutual exclusion of CDH1 and BRCA germline mutations in the pathway of hereditary breast cancer.
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    • Letter
    • PALB2 (partner and localizer of BRCA2).
    • Hanenberg H, Andreassen PR.
    • Atlas Genet Cytogenet Oncol Haematol. 2018 Apr;22(12):484-490. doi: 10.4267/2042/69016.
    • A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.
    • Silvestri V, Rizzolo P, Zelli V, Valentini V, Zanna I, Bianchi S, Tibiletti MG, Varesco L, Russo A, Tommasi S, Coppa A, Capalbo C, Calistri D, Viel A, Cortesi L, Manoukian S, Bonanni B, Montagna M, Palli D, Radice P, Peterlongo P, Ottini L.
    • Breast. 2018 Apr;38:92-97. doi: 10.1016/j.breast.2017.12.013. Epub 2018 Jan 4.
    • Discovery of mutations in homologous recombination genes in African-American women with breast cancer.
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    • Fam Cancer. 2018 Apr;17(2):187-195. doi: 10.1007/s10689-017-0036-4.
    • p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers.
    • Macedo GS, Vieira IA, Vianna FSL, Alemar B, Giacomazzi J, Brandalize APC, Caleffi M, Volc SM, de Campos Reis Galvão H, Palmero EI, Achatz MI, Ashton-Prolla P.
    • Fam Cancer. 2018 Apr;17(2):269-274. doi: 10.1007/s10689-017-0028-4.
    • Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
    • Catucci I, Osorio A, Arver B, Neidhardt G, Bogliolo M, Zanardi F, Riboni M, Minardi S, Pujol R, Azzollini J, Peissel B, Manoukian S, De Vecchi G, Casola S, Hauke J, Richters L, Rhiem K, Schmutzler RK, Wallander K, Törngren T, Borg Å, Radice P, Surrallés J, Hahnen E, Ehrencrona H, Kvist A, Benitez J, Peterlongo P.
    • Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24.
    • Case report

    Related:

    Press: Link Between Fanconi Anemia Genetic Mutations and Cancer Risk. (OncoTherapy Network)

    • Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.
    • Bogliolo M, Bluteau D, Lespinasse J, Pujol R, Vasquez N, d'Enghien CD, Stoppa-Lyonnet D, Leblanc T, Soulier J, Surrallés J.
    • Genet Med. 2018 Apr;20(4):458-463. doi: 10.1038/gim.2017.124. Epub 2017 Aug 24.
    • Case report
    • Mismatch repair deficiency is associated with MSI phenotype, increased tumor-infiltrating lymphocytes and PD-L1 expression in immune cells in ovarian cancer.
    • Xiao X, Dong D, He W, Song L, Wang O, Yue J, Xie L.
    • Gynecol Oncol. 2018 Apr;149(1):146-154. doi: 10.1016/j.ygyno.2018.02.009. Epub 2018 Mar 1.
    • Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
    • Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Cheng HS, Yang AS.
    • BMC Cancer. 2018 Mar 22;18(1):315. doi: 10.1186/s12885-018-4229-5.
    • Functional genomics identifies specific vulnerabilities in PTEN-deficient breast cancer.
    • Tang YC, Ho SC, Tan E, Ng AWT, McPherson JR, Goh GYL, Teh BT, Bard F, Rozen SG.
    • Breast Cancer Res. 2018 Mar 22;20(1):22. doi: 10.1186/s13058-018-0949-3.
    • Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.
    • Fenwick K, Chauhan R, Rust AG, Orr N, Dudbridge F, Haider S, Fletcher O.
    • Nat Commun. 2018 Mar 12;9(1):1028. doi: 10.1038/s41467-018-03411-9.

    Related:

    Press: Researchers Link 110 Genes with Increased Risk of Breast Cancer. (Clinical Omics)

    • Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.
    • Carvajal R, Fernández J, García N, López A, Gutiérrez-Enríquez S, Diez O, Benítez J, Salinas M, Teulé A, Brunet J, Radice P, Peterlongo P, Schindler D, Huertas P, Puente XS, Lázaro C, Pujana MÀ, Surrallés J.
    • Nat Commun. 2018 Mar 6;9(1):967. doi: 10.1038/s41467-018-03433-3.
    • Use of deep whole genome sequencing data to identify structure risk variants in breast cancer susceptibility genes.
    • Guo X, Shi J, Cai Q, Shu XO, He J, Wen W, Allen J, Pharoah P, Dunning A, Hunter DJ, Kraft P, Easton DF, Zheng W, Long J.
    • Hum Mol Genet. 2018 Mar 1;27(5):853-859. doi: 10.1093/hmg/ddy005.
    • Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
    • Pelttari LM, Shimelis H, Toiminen H, Kvist A, Törngren T, Borg Å, Blomqvist C, Bützow R, Couch F, Aittomäki K, Nevanlinna H.
    • Clin Genet. 2018 Mar;93(3):595-602. doi: 10.1111/cge.13123. Epub 2018 Jan 12.
    • Recommendations for biomarker testing in epithelial ovarian cancer: a National Consensus Statement by the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
    • Oaknin A, Guarch R, Barretina P, Hardisson D, González A, Matías-Guiu X, Pérez-Fidalgo A, Vieites B, Romero I, Palacios J.
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    • Association between glutathione peroxidase 1 codon 198 variant and the occurrence of breast cancer in Rwanda.
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    • Review
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    • Review
    • A2 Inherited mutations of PALB2 gene and breast cancer
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Rusak B, Jakubowska A, Szwiec M, Byrski T, Dębniak T, Górski B, Sopik V, Akbari MR, Sun P, Gronwald J, Narod SA, Lubiński J, Polish Hereditary Breast Cancer Consortium.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A2. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • A5 Relatively high incidence of non-founder brca1/2 mutation carriers among familial breast cancer cases in Latvia.
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    • Conference abstract
    • A6 Do recurrent mutations in genes other than brca1/2, chek2 and palb2 play important role in predisposition to breast cancer in polish women?
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    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A6. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • A7 Missense mutations of NBS1 and the risk of breast and prostate cancers.
    • Rusak B, Kluźniak W, Wokołorczyk D, Lubiński J, Cybulski C.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A7. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes.
    • Guacci A, Cordella A, Rocco T, Giurato G, Nassa G, Rizzo F, Carlomagno C, Pepe S, Tarallo R, Weisz A.
    • J Clin Lab Anal. 2018 Feb 27. doi: 10.1002/jcla.22418. [Epub ahead of print]
    • CHEK2 Germ Line Mutations are Lacking among Familial and Sporadic Breast Cancer Patients in Rwanda.
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    • Asian Pac J Cancer Prev. 2018 Feb 26;19(2):375-379.
    • Promoter Methylation of BRCA1, DAPK1 and RASSF1A is Associated with Increased Mortality among Indian Women with Breast Cancer.
    • Yadav P, Masroor M, Nandi K, Kaza RCM, Jain SK, Khurana N, Saxena A.
    • Asian Pac J Cancer Prev. 2018 Feb 26;19(2):443-448.
    • With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment.
    • fMester JL, Hruska KS.
    • JCO Precis Oncol. 2018 Feb 23;2018. doi: 10.1200/PO.17.00280. Epub 2018 Feb 23.

    Related:

    PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.

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    • Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
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    • Identification of a Rare Germline Heterozygous Deletion Involving the Polycistronic miR-17-92 Cluster in Two First-Degree Relatives from a BRCA 1/2 Negative Chilean Family with Familial Breast Cancer: Possible Functional Implications.
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    • Epigenetics. 2018;13(3):240-250. doi: 10.1080/15592294.2018.1435243. Epub 2018 Apr 2.
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    • A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
    • Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M.
    • Elife. 2017 Dec 12;6. pii: e30490. doi: 10.7554/eLife.30490.
    • Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
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    • JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

    Related:

    Audio Interview: Breast Cancer Due to Non–BRCA1 and Non–BRCA2 Mutations in Ashkenazi Jewish Women. (The JAMA Network)

    Letter:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2

    Letter, Reply:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply

    Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)

    Research review, Commentary: XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer? (FORCE. XRAYS. 2018 Jun 7.)

    • Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing.
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    • Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer.
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    • Genetic epidemiology of ovarian cancer and prospects for polygenic risk prediction.
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    • Gynecol Oncol. 2017 Dec;147(3):705-713. doi: 10.1016/j.ygyno.2017.10.001. Epub 2017 Oct 18.
    • Review
    • Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.
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    • Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.
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EMBRACE, Engel C, Eriksson M, Fachal L, Faivre L, Fasching PA, Faust U, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gaddam P, Gammon MD, Ganz PA, Gapstur SM, Garber J, Garcia-Barberan V, García-Sáenz JA, Gaudet MM, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Georgoulias V, Gerdes AM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goodfellow P, Greene MH, Alnæs GIG, Grip M, Gronwald J, Grundy A, Gschwantler-Kaulich D, Guénel P, Guo Q, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hallberg E, Hamann U, Hamel N, Hankinson S, Hansen TVO, Harrington P, Hart SN, Hartikainen JM, Healey CS; HEBON, Hein A, Helbig S, Henderson A, Heyworth J, Hicks B, Hillemanns P, Hodgson S, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover B, Hopper JL, Hu C, Huang G, Hulick PJ, Humphreys K, Hunter DJ, Imyanitov EN, Isaacs C, Iwasaki M, Izatt L, Jakubowska A, James P, Janavicius R, Janni W, Jensen UB, John EM, Johnson N, Jones K, Jones M, Jukkola-Vuorinen A, Kaaks R, Kabisch M, Kaczmarek K, Kang D, Kast K; kConFab/AOCS Investigators, Keeman R, Kerin MJ, Kets CM, Keupers M, Khan S, Khusnutdinova E, Kiiski JI, Kim SW, Knight JA, Konstantopoulou I, Kosma VM, Kristensen VN, Kruse TA, Kwong A, Lænkholm AV, Laitman Y, Lalloo F, Lambrechts D, Landsman K, Lasset C, Lazaro C, Le Marchand L, Lecarpentier J, Lee A, Lee E, Lee JW, Lee MH, Lejbkowicz F, Lesueur F, Li J, Lilyquist J, Lincoln A, Lindblom A, Lissowska J, Lo WY, Loibl S, Long J, Loud JT, Lubinski J, Luccarini C, Lush M, MacInnis RJ, Maishman T, Makalic E, Kostovska IM, Malone KE, Manoukian S, Manson JE, Margolin S, Martens JWM, Martinez ME, Matsuo K, Mavroudis D, Mazoyer S, McLean C, Meijers-Heijboer H, Menéndez P, Meyer J, Miao H, Miller A, Miller N, Mitchell G, Montagna M, Muir K, Mulligan AM, Mulot C, Nadesan S, Nathanson KL; NBSC Collaborators, Neuhausen SL, Nevanlinna H, Nevelsteen I, Niederacher D, Nielsen SF, Nordestgaard BG, Norman A, Nussbaum RL, Olah E, Olopade OI, Olson JE, Olswold C, Ong KR, Oosterwijk JC, Orr N, Osorio A, Pankratz VS, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Lloyd R, Pedersen IS, Peissel B, Peixoto A, Perez JIA, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Pinchev M, Plaseska-Karanfilska D, Poppe B, Porteous ME, Prentice R, Presneau N, Prokofieva D, Pugh E, Pujana MA, Pylkäs K, Rack B, Radice P, Rahman N, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rennert HS, Rhenius V, Rhiem K, Richardson A, Rodriguez GC, Romero A, Romm J, Rookus MA, Rudolph A, Ruediger T, Saloustros E, Sanders J, Sandler DP, Sangrajrang S, Sawyer EJ, Schmidt DF, Schoemaker MJ, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott RJ, Seal S, Senter L, Seynaeve C, Shah M, Sharma P, Shen CY, Sheng X, Shimelis H, Shrubsole MJ, Shu XO, Side LE, Singer CF, Sohn C, Southey MC, Spinelli JJ, Spurdle AB, Stegmaier C, Stoppa-Lyonnet D, Sukiennicki G, Surowy H, Sutter C, Swerdlow A, Szabo CI, Tamimi RM, Tan YY, Taylor JA, Tejada MI, Tengström M, Teo SH, Terry MB, Tessier DC, Teulé A, Thöne K, Thull DL, Tibiletti MG, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Tong L, Torres D, Tranchant M, Truong T, Tucker K, Tung N, Tyrer J, Ulmer HU, Vachon C, van Asperen CJ, Van Den Berg D, van den Ouweland AMW, van Rensburg EJ, Varesco L, Varon-Mateeva R, Vega A, Viel A, Vijai J, Vincent D, Vollenweider J, Walker L, Wang Z, Wang-Gohrke S, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wesseling J, Whittemore AS, Wijnen JT, Willett W, Winqvist R, Wolk A, Wu AH, Xia L, Yang XR, Yannoukakos D, Zaffaroni D, Zheng W, Zhu B, Ziogas A, Ziv E, Zorn KK, Gago-Dominguez M, Mannermaa A, Olsson H, Teixeira MR, Stone J, Offit K, Ottini L, Park SK, Thomassen M, Hall P, Meindl A, Schmutzler RK, Droit A, Bader GD, Pharoah PDP, Couch FJ, Easton DF, Kraft P, Chenevix-Trench G, García-Closas M, Schmidt MK, Antoniou AC, Simard J.
    • Nat Genet. 2017 Dec;49(12):1767-1778. doi: 10.1038/ng.3785. Epub 2017 Oct 23.

    Related:

    Press: More Breast Cancer Risk Gene Variants Discovered. (Medscape/WebMD)

    Research News: No new high-risk breast cancer genes here. (FORCE)

    • Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease.
    • Kimura F, Ueda A, Sato E, Akimoto J, Kaise H, Yamada K, Hosonaga M, Kawai Y, Teraoka S, Okazaki M, Ishikawa T.
    • Surg Case Rep. 2017 Dec;3(1):83. doi: 10.1186/s40792-017-0355-6. Epub 2017 Jul 24.
    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes. Other High-Penetrance Syndromes Associated With Breast and/or Gynecologic Cancers.
    • PDQ Cancer Genetics Editorial Board.
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    Related:

    Press: More Breast Cancer Risk Gene Variants Discovered. (Medscape/WebMD)

    Press: Global Breast Cancer Study Reveals 72 New Mutations. (OncoTherapy Network)

    Research News: No new high-risk breast cancer genes here. (FORCE)

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    Related:

    Letter:

    With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment.

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    • Review

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: PTEN article request

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    Subject: article request

    • PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
    • Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, Dörk T, Claes KB, Reis-Filho J, Teo ZL, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefrey FA, Dowty JG, Schmidt MK, Broeks A, Hogervorst FB, Verhoef S, Carpenter J, Clarke C, Scott RJ, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Burwinkel B, Yang R, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen S, Nielsen SF, Flyger H, Benitez J, Zamora MP, Perez JI, Menéndez P, Anton-Culver H, Neuhausen S, Ziogas A, Clarke CA, Brenner H, Arndt V, Stegmaier C, Brauch H, Brüning T, Ko YD, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova NV, Antonenkova NN, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Spurdle AB, Investigators K; Australian Ovarian Cancer Study Group, Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Olson JE, Vachon C, Pankratz VS, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnæs GG, Zheng W, Hunter DJ, Lindstrom S, Hankinson SE, Kraft P, Andrulis I, Knight JA, Glendon G, Mulligan AM, Jukkola-Vuorinen A, Grip M, Kauppila S, Devilee P, Tollenaar RA, Seynaeve C, Hollestelle A, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles DM, Rafiq S, Tapper WJ, Gerty SM, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Brand JS, Humphreys K, Cox A, Reed MW, Luccarini C, Baynes C, Dunning AM, Hamann U, Torres D, Ulmer HU, Rüdiger T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Swerdlow A, Ashworth A, Orr N, Jones M, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Simard J, Dumont M, Soucy P, Eeles R, Muir K, Wiklund F, Gronberg H, Schleutker J, Nordestgaard BG, Weischer M, Travis RC, Neal D, Donovan JL, Hamdy FC, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Schaid DJ, Kelley JL, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Butterbach K, Park J, Kaneva R, Batra J, Teixeira MR, Kote-Jarai Z, Olama AA, Benlloch S, Renner SP, Hartmann A, Hein A, Ruebner M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambretchs S, Doherty JA, Rossing MA, Nickels S, Eilber U, Wang-Gohrke S, Odunsi K, Sucheston-Campbell LE, Friel G, Lurie G, Killeen JL, Wilkens LR, Goodman MT, Runnebaum I, Hillemanns PA, Pelttari LM, Butzow R, Modugno F, Edwards RP, Ness RB, Moysich KB, du Bois A, Heitz F, Harter P, Kommoss S, Karlan BY, Walsh C, Lester J, Jensen A, Kjaer SK, Høgdall E, Peissel B, Bonanni B, Bernard L, Goode EL, Fridley BL, Vierkant RA, Cunningham JM, Larson MC, Fogarty ZC, Kalli KR, Liang D, Lu KH, Hildebrandt MA, Wu X, Levine DA, Dao F, Bisogna M, Berchuck A, Iversen ES, Marks JR, Akushevich L, Cramer DW, Schildkraut J, Terry KL, Poole EM, Stampfer M, Tworoger SS, Bandera EV, Orlow I, Olson SH, Bjorge L, Salvesen HB, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Pejovic T, Bean Y, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Górski B, Gronwald J, Menkiszak J, Høgdall CK, Lundvall L, Nedergaard L, Engelholm SA, Dicks E, Tyrer J, Campbell I, McNeish I, Paul J, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Cai H, Shu XO, Teten RT, Sutphen R, McLaughlin JR, Narod SA, Phelan CM, Monteiro AN, Fenstermacher D, Lin HY, Permuth JB, Sellers TA, Chen YA, Tsai YY, Chen Z, Gentry-Maharaj A, Gayther SA, Ramus SJ, Menon U, Wu AH, Pearce CL, Van Den Berg D, Pike MC, Dansonka-Mieszkowska A, Plisiecka-Halasa J, Moes-Sosnowska J, Kupryjanczyk J, Pharoah PD, Song H, Winship I, Chenevix-Trench G, Giles GG, Tavtigian SV, Easton DF, Milne RL.
    • J Med Genet. 2016 Dec;53(12):800-811. doi: 10.1136/jmedgenet-2016-103839. Epub 2016 Sep 5.

    Related:

    Research News: Rare mutations in PALB2, CHEK2, and ATM: how much do they increase cancer risk? (FORCE)

    • The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk.
    • Catucci I, Radice P, Milne RL, Couch FJ, Southey MC, Peterlongo P.
    • Breast Cancer Res. 2016 Nov 9;18(1):111.
    • Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer.
    • Kast K, Dobberschütz C, Sadowski CE, Pistorius S, Wimberger P.
    • Arch Gynecol Obstet. 2016 Nov;294(6):1299-1303. Epub 2016 Aug 18.
    • Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.
    • Catucci I, Casadei S, Ding YC, Volorio S, Ficarazzi F, Falanga A, Marchetti M, Tondini C, Franchi M, Adamson A, Mandell J, Walsh T, Olopade OI, Manoukian S, Radice P, Ricker C, Weitzel J, King MC, Peterlongo P, Neuhausen SL.
    • Breast Cancer Res Treat. 2016 Nov;160(1):121-129. Epub 2016 Sep 13.
    • A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.
    • Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K.
    • Cancer Discov. 2016 Nov;6(11):1267-1275. Epub 2016 Sep 21.
    • Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey.
    • Cecener G, Guney Eskiler G, Egeli U, Tunca B, Alemdar A, Gokgoz S, Tasdelen I.
    • Mol Biol Rep. 2016 Nov;43(11):1273-1284. Epub 2016 Aug 29.
    • The impact of in situ breast cancer and family history on risk of subsequent breast cancer events and mortality - a population-based study from Sweden.
    • Sackey H, Hui M, Czene K, Verkooijen H, Edgren G, Frisell J, Hartman M.
    • Breast Cancer Res. 2016 Oct 18;18(1):105. doi: 10.1186/s13058-016-0764-7.
    • Germline Variants of Prostate Cancer in Japanese Families.
    • Hayano T, Matsui H, Nakaoka H, Ohtake N, Hosomichi K, Suzuki K, Inoue I.
    • PLoS One. 2016 Oct 4;11(10):e0164233. doi: 10.1371/journal.pone.0164233. eCollection 2016.
    • Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium.
    • Muranen TA, Blomqvist C, Dörk T, Jakubowska A, Heikkilä P, Fagerholm R, Greco D, Aittomäki K, Bojesen SE, Shah M, Dunning AM, Rhenius V, Hall P, Czene K, Brand JS, Darabi H, Chang-Claude J, Rudolph A, Nordestgaard BG, Couch FJ, Hart SN, Figueroa J, García-Closas M, Fasching PA, Beckmann MW, Li J, Liu J, Andrulis IL, Winqvist R, Pylkäs K, Mannermaa A, Kataja V, Lindblom A, Margolin S, Lubinski J, Dubrowinskaja N, Bolla MK, Dennis J, Michailidou K, Wang Q, Easton DF, Pharoah PD, Schmidt MK, Nevanlinna H.
    • Breast Cancer Res. 2016 Oct 3;18(1):98. doi: 10.1186/s13058-016-0758-5.
    • The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance.
    • Skol AD, Sasaki MM, Onel K.
    • Breast Cancer Res. 2016 Oct 3;18(1):99. doi: 10.1186/s13058-016-0759-4.
    • Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.
    • Win AK, Reece JC, Dowty JG, Buchanan DD, Clendenning M, Rosty C, Southey MC, Young JP, Cleary SP, Kim H, Cotterchio M, Macrae FA, Tucker KM, Baron JA, Burnett T, Le Marchand L, Casey G, Haile RW, Newcomb PA, Thibodeau SN, Hopper JL, Gallinger S, Winship IM, Lindor NM, Jenkins MA.
    • Int J Cancer. 2016 Oct 1;139(7):1557-63. doi: 10.1002/ijc.30197. Epub 2016 Jun 2.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: MUTYH carriers- letter template and extracolonic cancers

    • Genomic profiling of breast cancer in African-American women using MammaPrint.
    • Nunes RA, Wray L, Mete M, Herbolsheimer P, Smith KL, Bijelic L, Boisvert ME, Swain SM.
    • Breast Cancer Res Treat. 2016 Oct;159(3):481-8. doi: 10.1007/s10549-016-3949-y. Epub 2016 Aug 27.
    • Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
    • Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A.
    • Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31.
    • Genomic Disparities in Breast Cancer Among Latinas.
    • Lynce F, Graves KD, Jandorf L, Ricker C, Castro E, Moreno L, Augusto B, Fejerman L, Vadaparampil ST.
    • Cancer Control. 2016 Oct;23(4):359-372.
    • Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.
    • Pfeifer K, Schürmann P, Bogdanova N, Neuhäuser K, Kostovska IM, Plaseska-Karanfilska D, Park-Simon TW, Schindler D, Dörk T.
    • Clin Genet. 2016 Oct;90(4):385-6. doi: 10.1111/cge.12837. Epub 2016 Aug 10.
    • Letter

    Related:

    Letter, Reply

    RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.

    • BRCA2: a grown-up cancer susceptibility gene.
    • Foulkes WD, Sugano K.
    • Endocr Relat Cancer. 2016 Oct;23(10):E1-E3.

    Related:

    Review:

    BRCA2 functions: from DNA repair to replication fork stabilization.

    Review:

    Defects in homologous recombination repair behind the human diseases: FA and HBOC.

    Review:

    Synthetic lethality: the road to novel therapies for breast cancer.

    Review:

    Pancreatic ductal adenocarcinoma in BRCA2 mutation carriers.

    Review:

    Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers.

    • Defects in homologous recombination repair behind the human diseases: FA and HBOC.
    • Katsuki Y, Takata M.
    • Endocr Relat Cancer. 2016 Oct;23(10):T19-T37. Epub 2016 Aug 22.

    Related:

    Introductory article, Editorial:

    BRCA2: a grown-up cancer susceptibility gene.

    • Different prognostic roles of tumor suppressor gene BAP1 in cancer: A systematic review with meta-analysis.
    • Luchini C, Veronese N, Yachida S, Cheng L, Nottegar A, Stubbs B, Solmi M, Capelli P, Pea A, Barbareschi M, Fassan M, Wood LD, Scarpa A.
    • Genes Chromosomes Cancer. 2016 Oct;55(10):741-9. doi: 10.1002/gcc.22381. Epub 2016 Jul 7.
    • Meta-Analysis, Review
    • [The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing].
    • Prokofyeva DS, Mingajeva ET, Bogdanova NV, Faiskhanova RR, Sakaeva DD, Dörk T, Khusnutdinova EK.
    • Genetika. 2016 Oct;52(10):1215-21.
    • [Article in Russian]
    • Genetic predisposition to gastric cancer.
    • Petrovchich I, Ford JM.
    • Semin Oncol. 2016 Oct;43(5):554-559. doi: 10.1053/j.seminoncol.2016.08.006. Epub 2016 Sep 22.
    • Review
    • Prevalence of the CHEK2 R95* germline mutation.
    • Knappskog S, Leirvaag B, Gansmo LB, Romundstad P, Hveem K, Vatten L, Lønning PE.
    • Hered Cancer Clin Pract. 2016 Sep 27;14:19. eCollection 2016. doi: 10.1186/s13053-016-0059-0.
    • Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer.
    • Pensabene M, Condello C, Carlomagno C, De Placido S, Liccardo R, Duraturo F.
    • Hered Cancer Clin Pract. 2016 Sep 6;14(1):18. doi: 10.1186/s13053-016-0054-5. eCollection 2016.
    • Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.
    • Prodosmo A, Buffone A, Mattioni M, Barnabei A, Persichetti A, De Leo A, Appetecchia M, Nicolussi A, Coppa A, Sciacchitano S, Giordano C, Pinnarò P, Sanguineti G, Strigari L, Alessandrini G, Facciolo F, Cosimelli M, Grazi GL, Corrado G, Vizza E, Giannini G, Soddu S.
    • J Exp Clin Cancer Res. 2016 Sep 6;35(1):135. doi: 10.1186/s13046-016-0410-3.
    • Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.
    • Kappil M, Terry MB, Delgado-Cruzata L, Liao Y, Santella RM.
    • Anticancer Res. 2016 Sep;36(9):4437-41.
    • Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.
    • Pinto P, Paulo P, Santos C, Rocha P, Pinto C, Veiga I, Pinheiro M, Peixoto A, Teixeira MR.
    • Breast Cancer Res Treat. 2016 Sep;159(2):245-56. doi: 10.1007/s10549-016-3948-z. Epub 2016 Aug 23.
    • Reevaluation of RINT1 as a breast cancer predisposition gene.
    • Li N, Thompson ER, Rowley SM, McInerny S, Devereux L, Goode D, Investigators L, Wong-Brown MW, Scott RJ, Trainer AH, Gorringe KL, James PA, Campbell IG.
    • Breast Cancer Res Treat. 2016 Sep;159(2):385-92. doi: 10.1007/s10549-016-3944-3. Epub 2016 Aug 20.
    • An exome-wide analysis of low frequency and rare variants in relation to risk of breast cancer in African American Women: the AMBER Consortium.
    • Haddad SA, Ruiz-Narváez EA, Haiman CA, Sucheston-Campbell LE, Bensen JT, Zhu Q, Liu S, Yao S, Bandera EV, Rosenberg L, Olshan AF, Ambrosone CB, Palmer JR, Lunetta KL.
    • Carcinogenesis. 2016 Sep;37(9):870-877. doi: 10.1093/carcin/bgw067. Epub 2016 Jun 7.
    • A Review of Whole Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.
    • Chandler MR, Bilgili EP, Merner ND.
    • Hum Mutat. 2016 Sep;37(9):835-46. doi: 10.1002/humu.23017. Epub 2016 Jun 27.
    • Review
    • Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.
    • Hilbers FS, Luijsterburg MS, Wiegant WW, Meijers CM, Völker-Albert M, Boonen RA, van Asperen CJ, Devilee P, van Attikum H.
    • Hum Mutat. 2016 Sep;37(9):914-25. doi: 10.1002/humu.23019. Epub 2016 Jun 17.

    Related:

    In This Issue:

    Classification of Missense Variants in XRCC2 by Functional Analysis: Implications for Breast Cancer Association Studies.

    • Hereditary breast and ovarian cancer: new genes in confined pathways.
    • Nielsen FC, van Overeem Hansen T, Sørensen CS.
    • Nat Rev Cancer. 2016 Sep;16(9):599-612. doi: 10.1038/nrc.2016.72. Epub 2016 Aug 12.
    • Review
    • Ovarian cancer.
    • Matulonis UA, Sood AK, Fallowfield L, Howitt BE, Sehouli J, Karlan BY.
    • Nat Rev Dis Primers. 2016 Aug 25;2:16061. doi: 10.1038/nrdp.2016.61.
    • Review
    • NCI Launches Large Study of Breast Cancer Genetics in Black Women
    • Jennifer Abbasi
    • JAMA. 2016 Aug 23;316(8):808. doi:10.1001/jama.2016.11180.
    • News
    • Reevaluation of RINT1 as a breast cancer predisposition gene.
    • Li N, Thompson ER, Rowley SM, McInerny S, Devereux L, Goode D, Investigators L, Wong-Brown MW, Scott RJ, Trainer AH, Gorringe KL, James PA, Campbell IG.
    • Breast Cancer Res Treat. 2016 Aug 20. [Epub ahead of print]
    • Can Pancreatic Cancer Be Inherited?
    • [No author given]
    • Insight. Dana-Farber Cancer Institute. 2016 Aug 17.
    • Primary Peritoneal Carcinoma in a BRCA1/2-negative, PALB2-positive patient.
    • Kahn R, Garcia-Soto A, Silva-Smith R, Pinto A, George SH.
    • Gynecol Oncol Rep. 2016 Aug 2;17:93-5. doi: 10.1016/j.gore.2016.08.001. eCollection 2016.
    • Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?
    • Lener MR, Scott RJ, Kluźniak W, Baszuk P, Cybulski C, Wiechowska-Kozłowska A, Huzarski T, Byrski T, Kładny J, Pietrzak S, Soluch A, Jakubowska A, Lubiński J.
    • Int J Cancer. 2016 Aug 1;139(3):601-6. doi: 10.1002/ijc.30116. Epub 2016 Apr 18.
    • A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago.
    • Donenberg T, Ahmed H, Royer R, Zhang S, Narod SA, George S, Akbari MR, Ali J, Hurley J.
    • Breast Cancer Res Treat. 2016 Aug;159(1):131-8. doi: 10.1007/s10549-016-3870-4. Epub 2016 Jul 28.
    • Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families.
    • Muranen TA, Mavaddat N, Khan S, Fagerholm R, Pelttari L, Lee A, Aittomäki K, Blomqvist C, Easton DF, Nevanlinna H.
    • Breast Cancer Res Treat. 2016 Aug;158(3):463-9. doi: 10.1007/s10549-016-3897-6. Epub 2016 Jul 20.
    • CAG repeat size in Huntingtin alleles is associated with cancer prognosis.
    • Thion MS, Tézenas du Montcel S, Golmard JL, Vacher S, Barjhoux L, Sornin V, Cazeneuve C, Bièche I, Sinilnikova O, Stoppa-Lyonnet D, Durr A, Humbert S.
    • Eur J Hum Genet. 2016 Aug;24(9):1310-5. doi: 10.1038/ejhg.2016.13. Epub 2016 Mar 16.
    • Polymorphisms in cancer susceptibility genes XRCC1, RAD51 and TP53 and the risk of breast cancer in Serbian women.
    • Krivokuca AM, Cavic MR, Malisic EJ, Rakobradovic JD, Kolarevic-Ivankovic D, Tomasevic ZI, Brankovic-Magic MV.
    • Int J Biol Markers. 2016 Jul 30;31(3):e258-63. doi: 10.5301/jbm.5000201.
    • Are genetic testing criteria redundant in the light of next generation sequencing technologies?
    • Charlotte Warren-Gash.
    • PHG Foundation. 2016 July 29.

    Related:

    Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.

    • Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients.
    • Obermeier K, Sachsenweger J, Friedl TW, Pospiech H, Winqvist R, Wiesmüller L.
    • Oncogene. 2016 Jul 21;35(29):3796-806. doi: 10.1038/onc.2015.448. Epub 2015 Dec 7.
    • Quality of Life and Psychological State in Chinese Breast Cancer Patients Who Received BRCA1/2 Genetic Testing.
    • Qiu J, Guan J, Yang X, Wu J, Liu G, Di G, Chen C, Hou Y, Han Q, Shen Z, Shao Z, Hu Z.
    • PLoS One. 2016 Jul 18;11(7):e0158531. doi: 10.1371/journal.pone.0158531. eCollection 2016.
    • Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk.
    • Liu J, Prager-van der Smissen WJ, Schmidt MK, Collée JM, Cornelissen S, Lamping R, Nieuwlaat A, Foekens JA, Hooning MJ, Verhoef S, van den Ouweland AM, Hogervorst FB, Martens JW, Hollestelle A.
    • Sci Rep. 2016 Jul 18;6:30026. doi: 10.1038/srep30026.
    • A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.
    • Rashid MU, Naeemi H, Muhammad N, Loya A, Yusuf MA, Lubiński J, Jakubowska A, Hamann U.
    • Hered Cancer Clin Pract. 2016 Jul 12;14:14. doi: 10.1186/s13053-016-0056-3. eCollection 2016.
    • The CHEK2 del5395 is a founder mutation without direct effects for cancer risk in the latvian population.
    • Plonis J, Kalniete D, Nakazawa-Miklasevica M, Irmejs A, Vjaters E, Gardovskis J, Miklasevics E.
    • Balkan J Med Genet. 2016 Jul 9;18(2):33-36. eCollection 2015.
    • Multi-gene Testing Increases Complexity of Counseling Women at Risk of Breast and Ovarian Cancer.
    • Hughes, D
    • Cancer Therapy Advisor. Breast Cancer Advisor. 2016 Jul 6.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: VUS

    • NIH launches largest-ever study of breast cancer genetics in black women.
    • [No author given]
    • NIH. 2016 Jul 6.
    • Analysis of BRIP1 Variants Among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.
    • Kim H, Cho DY, Choi DH, Jung GH, Shin I, Park W, Huh SJ, Nam SJ, Lee JE, Gil WH, Kim SW.
    • Cancer Res Treat. 2016 Jul;48(3):955-61. doi: 10.4143/crt.2015.191. Epub 2016 Jan 19.
    • The risk of new-onset cancer associated with HFE C282Y and H63D mutations: evidence from 87,028 participants.
    • Lv YF, Chang X, Hua RX, Yan GN, Meng G, Liao XY, Zhang X, Guo QN.
    • J Cell Mol Med. 2016 Jul;20(7):1219-33. doi: 10.1111/jcmm.12764. Epub 2016 Feb 19.
    • Second Primary Cancers After Primary Breast Cancer Diagnosis in Israeli Women, 1992 to 2006.
    • Silverman BG, Lipshitz I, Keinan-Boker L.
    • J Glob Oncol. 2016 Jun 29. doi: 10.1200/JGO.2016.003699. [Epub ahead of print]
    • Prevalence of Triple-Negative Breast Cancer in India: Systematic Review and Meta-Analysis.
    • Sandhu GS, Erqou S, Patterson H, Mathew A.
    • J Glob Oncol. 2016 Jun 29. doi: 10.1200/JGO.2016.005397. [Epub ahead of print]
    • Common genetic susceptibility to DCIS and invasive ductal carcinoma.
    • Sopik V, Narod SA.
    • Breast Cancer Res. 2016 Jun 10;18(1):60. doi: 10.1186/s13058-016-0719-z.

    Related:

    Genetic predisposition to ductal carcinoma in situ of the breast.

    • ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.
    • Renault AL, Lesueur F, Coulombe Y, Gobeil S, Soucy P, Hamdi Y, Desjardins S, Le Calvez-Kelm F, Vallée M, Voegele C; Breast Cancer Family Registry, Hopper JL, Andrulis IL, Southey MC, John EM, Masson JY, Tavtigian SV, Simard J.
    • PLoS One. 2016 Jun 7;11(6):e0156820. doi: 10.1371/journal.pone.0156820. eCollection 2016.
    • Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.
    • Warren-Gash C, Kroese M, Burton H, Pharoah P.
    • Hered Cancer Clin Pract. 2016 Jun 1;14:12. doi: 10.1186/s13053-016-0052-7. eCollection 2016.

    Related:

    Press: Are genetic testing criteria redundant in the light of next generation sequencing technologies? (PHG Foundation)

    • Germline RECQL mutations in high risk Chinese breast cancer patients.
    • Kwong A, Shin VY, Cheuk IW, Chen J, Au CH, Ho DN, Chan TL, Ma ES, Akbari MR, Narod SA.
    • Breast Cancer Res Treat. 2016 Jun;157(2):211-5. doi: 10.1007/s10549-016-3784-1. Epub 2016 Apr 28.
    • Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".
    • Sales Luiz Vianna F, Alemar B, Achatz MI, Camey SA, Ashton-Prolla P.
    • Cancer Genet. 2016 Jun;209(6):282-3. doi: 10.1016/j.cancergen.2016.04.002. Epub 2016 Apr 27.
    • Letter

    Related:

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    • The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
    • Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, Lopes da Silva Filho A, Friedman E.
    • Cancer Genet. 2016 Jun;209(6):283-4. doi: 10.1016/j.cancergen.2016.04.057. Epub 2016 Apr 22.
    • Letter

    Related:

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Letter

    Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".

    • Genetic testing for hereditary breast cancer in Asia-moving forward.
    • Kwong A.
    • Chin Clin Oncol. 2016 Jun;5(3):47. doi: 10.21037/cco.2016.05.11.
    • The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.
    • Witkowski L, Goudie C, Ramos P, Boshari T, Brunet JS, Karnezis AN, Longy M, Knost JA, Saloustros E, McCluggage WG, Stewart CJ, Hendricks WP, Cunliffe H, Huntsman DG, Pautier P, Levine DA, Trent JM, Berchuck A, Hasselblatt M, Foulkes WD.
    • Gynecol Oncol. 2016 Jun;141(3):454-60. doi: 10.1016/j.ygyno.2016.03.013. Epub 2016 Mar 19.
    • Detection of Human Papillomavirus Genotypes and Major BRCA Mutations in Familial Breast Cancer.
    • Mohtasebi P, Rassi H, Maleki F, Hajimohammadi S, Bagheri Z, Fakhar Miandoab M, Naserbakht M.
    • Monoclon Antib Immunodiagn Immunother. 2016 Jun;35(3):135-40. doi: 10.1089/mab.2015.0081. Epub 2016 May 17.
    • Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening.
    • Mills AM, Longacre TA.
    • Surg Pathol Clin. 2016 Jun;9(2):201-14. doi: 10.1016/j.path.2016.01.004. Epub 2016 Apr 12.
    • Review
    • Germline APOBEC3B deletion is associated with breast cancer risk in an Asian multi-ethnic cohort and with immune cell presentation.
    • Wen WX, Soo JS, Kwan PY, Hong E, Khang TF, Mariapun S, Lee CS, Hasan SN, Rajadurai P, Yip CH, Mohd Taib NA, Teo SH.
    • Breast Cancer Res. 2016 May 27;18(1):56. doi: 10.1186/s13058-016-0717-1.
    • Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.
    • Palmero EI, Alemar B, Schüler-Faccini L, Hainaut P, Moreira-Filho CA, Ewald IP, Santos PK, Ribeiro , Oliveira Netto CB, Kelm FL, Tavtigian S, Cossio SL, Giugliani R, Caleffi M, Ashton-Prolla P.
    • Genet Mol Biol. 2016 May 24;39(2):210-22. doi: 10.1590/1678-4685-GMB-2014-0363.
    • Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation.
    • Andrade KC, Santiago KM, Fortes FP, Mambelli LI, Nóbrega AF, Achatz MI.
    • Genet Mol Biol. 2016 May 24;39(2):199-202. doi: 10.1590/1678-4685-GMB-2014-0343.
    • RAD51B in Familial Breast Cancer.
    • Pelttari LM, Khan S, Vuorela M, Kiiski JI, Vilske S, Nevanlinna V, Ranta S, Schleutker J, Winqvist R, Kallioniemi A, Dörk T, Bogdanova NV, Figueroa J, Pharoah PD, Schmidt MK, Dunning AM, García-Closas M, Bolla MK, Dennis J, Michailidou K, Wang Q, Hopper JL, Southey MC, Rosenberg EH, Fasching PA, Beckmann MW, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Surowy H, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, Benitez J, González-Neira A, Neuhausen SL, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Brüning T, Lindblom A, Margolin S, Mannermaa A, Hartikainen JM, Chenevix-Trench G; kConFab/AOCS Investigators, Van Dyck L, Janssen H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Hallberg E, Olson JE, Giles GG, Milne RL, Haiman CA, Schumacher F, Simard J, Dumont M, Kristensen V, Borresen-Dale AL, Zheng W, Beeghly-Fadiel A, Grip M, Andrulis IL, Glendon G, Devilee P, Seynaeve C, Hooning MJ, Collée M, Cox A, Cross SS, Shah M, Luben RN, Hamann U, Torres D, Jakubowska A, Lubinski J, Couch FJ, Yannoukakos D, Orr N, Swerdlow A, Darabi H, Li J, Czene K, Hall P, Easton DF, Mattson J, Blomqvist C, Aittomäki K, Nevanlinna H.
    • PLoS One. 2016 May 5;11(5):e0153788. doi: 10.1371/journal.pone.0153788. eCollection 2016.
    • Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.
    • Benitez-Buelga C, Vaclová T, Ferreira S, Urioste M, Inglada-Perez L, Soberón N, Blasco MA, Osorio A, Benitez J.
    • Oncotarget. 2016 May 3;7(18):25815-25. doi: 10.18632/oncotarget.8272.
    • Role of PALB2 Polymorphisms with Regard to Susceptibility to Female Breast Cancer Risk in the Chinese Population.
    • Jiang W, Zhuang C, Zheng L, Wang X.
    • Genet Test Mol Biomarkers. 2016 May;20(5):229-34. doi: 10.1089/gtmb.2015.0303. Epub 2016 Mar 16.
    • Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients.
    • Hasmad HN, Lai KN, Wen WX, Park DJ, Nguyen-Dumont T, Kang PC, Thirthagiri E, Ma'som M, Lim BK, Southey M, Woo YL, Teo SH.
    • Gynecol Oncol. 2016 May;141(2):318-22. doi: 10.1016/j.ygyno.2015.11.001. Epub 2015 Nov 3.
    • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
    • Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomäki K, Anton-Culver H, Arndt V; Australian Ovarian Cancer Study Group, Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, García-Closas M, Giles GG, Glendon G, González-Neira A, Guénel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D; kConFab Investigators, Kosma VM, Kristensen V, Lambrechts D, Li N; Lifepool Investigators, Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K; NBCS Investigators, Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkäs K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C, Verhoef S, Wong-Brown M, Zheng W, Zheng Y, Nevanlinna H, Scott RJ, Andrulis IL, Wu AH, Hopper JL, Couch FJ, Winqvist R, Burwinkel B, Sawyer EJ, Schmidt MK, Rudolph A, Dörk T, Brauch H, Hamann U, Neuhausen SL, Milne RL, Fletcher O, Pharoah PD, Campbell IG, Dunning AM, Le Calvez-Kelm F, Goldgar DE, Tavtigian SV, Chenevix-Trench G.
    • J Med Genet. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. Epub 2016 Feb 26.

    Related:

    Commentary

    Risky business: getting a grip on BRIP.

    • Podcast: Don't Allow The Wrong Genetic Test To Be Ordered For Your Family.
    • Ellen T. Matloff.
    • My Gene Counsel. 2016 Apr 26.
    • Beyond BRCA: CHEK2.
    • [No author given]
    • My Gene Counsel. 2016 Apr 21.
    • PALB2: research reaching to clinical outcomes for women with breast cancer.
    • Southey MC, Winship I, Nguyen-Dumont T.
    • Hered Cancer Clin Pract. 2016 Apr 19;14:9. doi: 10.1186/s13053-016-0049-2. eCollection 2016.
    • Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study.
    • Näslund-Koch C, Nordestgaard BG, Bojesen SE.
    • J Clin Oncol. 2016 Apr 10;34(11):1208-16. doi: 10.1200/JCO.2015.63.3594. Epub 2016 Feb 16.
    • NCCN Adds New Gene Mutations to Consider in Women's Cancers.
    • Fran Lowry.
    • Medscape Medical News. Oncology. National Comprehensive Cancer Network (NCCN) 21st Annual Conference. 2016 Apr 4.
    • Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.
    • Ghazwani Y, AlBalwi M, Al-Abdulkareem I, Al-Dress M, Alharbi T, Alsudairy R, Alomari A, Aljamaan K, Essa M, Al-Zahrani M, Alsultan A.
    • Cancer Genet. 2016 Apr;209(4):171-6. doi: 10.1016/j.cancergen.2016.02.003. Epub 2016 Feb 15.
    • Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer.
    • Poumpouridou N, Goutas N, Tsionou C, Dimas K, Lianidou E, Kroupis C.
    • Fam Cancer. 2016 Apr;15(2):183-91. doi: 10.1007/s10689-015-9851-7.
    • CDH1 germline mutations and hereditary lobular breast cancer.
    • Corso G, Intra M, Trentin C, Veronesi P, Galimberti V.
    • Fam Cancer. 2016 Apr;15(2):215-9. doi: 10.1007/s10689-016-9869-5.
    • Review
    • A new paradigm of genetic testing for hereditary breast/ovarian cancers.
    • Kwong A, Chen JW, Shin VY.
    • Hong Kong Med J. 2016 Apr;22(2):171-7. doi: 10.12809/hkmj154634. Epub 2016 Mar 14.
    • Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer.
    • Nakagomi H, Sakamoto I, Hirotsu Y, Amemiya K, Mochiduki H, Omata M.
    • Int J Clin Oncol. 2016 Apr;21(2):270-5. doi: 10.1007/s10147-015-0906-4. Epub 2015 Sep 28.
    • A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis.
    • Huszno J, Budryk M, Kołosza Z, Tęcza K, Pamuła Piłat J, Nowara E, Grzybowska E.
    • Oncology. [2016 Apr;]90(4):193-8. doi: 10.1159/000444326. Epub 2016 Mar 19.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    • Novel SYK gene variations and changes in binding sites of miRs in breast cancer patients.
    • Faryal R, Ishfaq M, Hayat T, Mahjabeen I, Kayani MA.
    • Cancer Biomark. 2016 Mar 30;16(3):319-26. doi: 10.3233/CBM-160569.
    • Genetics of triple-negative breast cancer: Implications for patient care.
    • Afghahi A, Telli ML, Kurian AW.
    • Curr Probl Cancer. 2016 Mar - Aug;40(2-4):130-140. doi: 10.1016/j.currproblcancer.2016.09.007. Epub 2016 Sep 23.
    • Review
    • Implementation of a risk assessment program in a breast-imaging community practice.
    • Destounis S, Arieno A, Morgan R.
    • Breast Cancer. 2016 Mar;23(2):273-8. doi: 10.1007/s12282-014-0569-4. Epub 2014 Oct 7.
    • Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.
    • De Brakeleer S, De Grève J, Desmedt C, Joris S, Sotiriou C, Piccart M, Pauwels I, Teugels E.
    • Clin Genet. 2016 Mar;89(3):336-40. doi: 10.1111/cge.12620. Epub 2015 Jun 16.
    • Complete Durable Response From Carboplatin and Olaparib in a Heavily Pretreated Triple-Negative Metastatic Breast Cancer With Germline BRCA2 and "BRCAness" Mutations.
    • Hong S, Funchain P, Haddad A, Crowe J, Dalpiaz N, Abraham J.
    • J Oncol Pract. 2016 Mar;12(3):270-2. doi: 10.1200/JOP.2016.010710.
    • Case report
    • ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients.
    • Villacis RA, Abreu FB, Miranda PM, Domingues MA, Carraro DM, Santos EM, Andrade VP, Rossi BM, Achatz MI, Rogatto SR.
    • Tumour Biol. 2016 Mar;37(3):3145-53. doi: 10.1007/s13277-015-4145-0. Epub 2015 Oct 1.
    • [PTEN and NBS1 gene mutations in familial breast cancer and early-onset breast cancer from Hunan Province in China].
    • Wu Y, Jiang B, Dai X, Hu X, Wang S, Jiang P, Hu Y, Huang J.
    • Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2016 Feb 28;41(2):121-6. doi: 10.11817/j.issn.1672-7347.2016.02.002.
    • Genetic predisposition to ductal carcinoma in situ of the breast.
    • Petridis C, Brook MN, Shah V, Kohut K, Gorman P, Caneppele M, Levi D, Papouli E, Orr N, Cox A, Cross SS, Dos-Santos-Silva I, Peto J, Swerdlow A, Schoemaker MJ, Bolla MK, Wang Q, Dennis J, Michailidou K, Benitez J, González-Neira A, Tessier DC, Vincent D, Li J, Figueroa J, Kristensen V, Borresen-Dale AL, Soucy P, Simard J, Milne RL, Giles GG, Margolin S, Lindblom A, Brüning T, Brauch H, Southey MC, Hopper JL, Dörk T, Bogdanova NV, Kabisch M, Hamann U, Schmutzler RK, Meindl A, Brenner H, Arndt V, Winqvist R, Pylkäs K, Fasching PA, Beckmann MW, Lubinski J, Jakubowska A, Mulligan AM, Andrulis IL, Tollenaar RA, Devilee P, Le Marchand L, Haiman CA, Mannermaa A, Kosma VM, Radice P, Peterlongo P, Marme F, Burwinkel B, van Deurzen CH, Hollestelle A, Miller N, Kerin MJ, Lambrechts D, Floris G, Wesseling J, Flyger H, Bojesen SE, Yao S, Ambrosone CB, Chenevix-Trench G, Truong T, Guénel P, Rudolph A, Chang-Claude J, Nevanlinna H, Blomqvist C, Czene K, Brand JS, Olson JE, Couch FJ, Dunning AM, Hall P, Easton DF, Pharoah PD, Pinder SE, Schmidt MK, Tomlinson I, Roylance R, García-Closas M, Sawyer EJ.
    • Breast Cancer Res. 2016 Feb 17;18(1):22. doi: 10.1186/s13058-016-0675-7.

    Related:

    Letter

    Common genetic susceptibility to DCIS and invasive ductal carcinoma.

    • Beyond BRCA: Testing negative and living in the 'gray zone' for cancer risk.
    • [No author given]
    • My Gene Counsel. 2016 Feb 16.
    • Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
    • Wojcik P, Jasiowka M, Strycharz E, Sobol M, Hodorowicz-Zaniewska D, Skotnicki P, Byrski T, Blecharz P, Marczyk E, Cedrych I, Jakubowicz J, Lubiński J, Sopik V, Narod S, Pierzchalski P.
    • Hered Cancer Clin Pract. 2016 Feb 3;14:5. doi: 10.1186/s13053-016-0046-5. eCollection 2016.
    • Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
    • Mantere T, Winqvist R, Kauppila S, Grip M, Jukkola-Vuorinen A, Tervasmäki A, Rapakko K, Pylkäs K.
    • PLoS Genet. 2016 Jan 28;12(1):e1005816. doi: 10.1371/journal.pgen.1005816. eCollection 2016.
    • Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes.
    • Fernandes GC, Michelli RA, Scapulatempo-Neto C, Palmero EI.
    • Hered Cancer Clin Pract. 2016 Jan 13;14:2. doi: 10.1186/s13053-015-0042-1. eCollection 2016.
    • GENESIS: a French national resource to study the missing heritability of breast cancer.
    • Sinilnikova OM, Dondon MG, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, Verny-Pierre C, Sornin V, Toulemonde L, Beauvallet J, Le Gal D, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Dugast C, Gesta P, Fricker JP, Noguès C, Faivre L, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis C, Venat-Bouvet L, Demange L, Dreyfus H, Frenay M, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Chevrier A, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Colas C, Fert-Ferrer S, Penet C, Frebourg T, Collonge-Rame MA, Barouk-Simonet E, Layet V, Leroux D, Cohen-Haguenauer O, Prieur F, Mouret-Fourme E, Cornélis F, Jonveaux P, Bera O, Cavaciuti E, Tardivon A, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Andrieu N.
    • BMC Cancer. 2016 Jan 12;16(1):13. doi: 10.1186/s12885-015-2028-9.
    • BRIP1, a potential candidate gene in development of non-BRCA1/2 breast cancer.
    • Ouhtit A, Gupta I, Shaikh Z.
    • Front Biosci (Elite Ed). 2016 Jan 1;8:289-98.
    • Review
    • Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.
    • Mahon SM.
    • Oncol Nurs Forum. 2016 Jan 1;43(1):114-7. doi: 10.1188/16.ONF.114-117.
    • Review
    • The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
    • Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, da Silva Filho AL, Friedman E.
    • Cancer Genet. 2016 Jan-Feb;209(1-2):50-2. doi: 10.1016/j.cancergen.2015.11.003. Epub 2015 Dec 1.
    • Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
    • Jønson L, Ahlborn LB, Steffensen AY, Djursby M, Ejlertsen B, Timshel S, Nielsen FC, Gerdes AM, Hansen TV.
    • Breast Cancer Res Treat. 2016 Jan;155(2):215-22. doi: 10.1007/s10549-015-3674-y. Epub 2016 Jan 6.
    • Screening of HELQ in breast and ovarian cancer families.
    • Pelttari LM, Kinnunen L, Kiiski JI, Khan S, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Fam Cancer. 2016 Jan;15(1):19-23. doi: 10.1007/s10689-015-9838-4.
    • Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry.
    • Schultz KA, Harris A, Messinger Y, Sencer S, Baldinger S, Dehner LP, Hill DA.
    • Fam Cancer. 2016 Jan;15(1):105-10. doi: 10.1007/s10689-015-9831-y.
    • Case report
    • Genetic screening for gynecological cancer: where are we heading?
    • Manchanda R, Jacobs I.
    • Future Oncol. 2016 Jan;12(2):207-20. doi: 10.2217/fon.15.278. Epub 2015 Dec 7.
    • Editorial / Commentary
    • Breast Cancer Risk Assessment: Moving Beyond BRCA 1 and 2.
    • Scalia-Wilbur J, Colins BL, Penson RT, Dizon DS.
    • Semin Radiat Oncol. 2016 Jan;26(1):3-8. doi: 10.1016/j.semradonc.2015.09.004. Epub 2015 Sep 4.
    • Genomic Biomarkers for Breast Cancer Risk.
    • Walsh MF, Nathanson KL, Couch FJ, Offit K.
    • Adv Exp Med Biol. 2016;882:1-32. doi: 10.1007/978-3-319-22909-6_1.
    • Review
    • Breast Cancer Risk Based on the Gail Model and its Predictors in Iranian Women.
    • Mirghafourvand M, Mohammad-Alizadeh-Charandabi S, Ahmadpour P, Rahi P.
    • Asian Pac J Cancer Prev. 2016;17(8):3741-5.
    • BRCA1 and TP53 Gene-Mutations: Family Predisposition and Radioecological Risk of Developing Breast Cancer.
    • Apsalikov B, Manambaeva Z, Ospanov E, Massabayeva M, Zhabagin K, Zhagiparova Z, Maximov V, Voropaeva E, Apsalikov K, Belikhina T, Abdrahmanov R, Cherepkova E, Tanatarov S, Massadykov A, Urazalina N.
    • Asian Pac J Cancer Prev. 2016;17(8):4059-62.
    • Breast Cancer in Pakistan a Critical Appraisal of the Situation Regarding Female Health and Where the Nation Stands?
    • Basra MA, Saher M, Athar MM, Raza MH.
    • Asian Pac J Cancer Prev. 2016;17(7):3035-41.
    • Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan.
    • Baloch AH, Khosa AN, Bangulzai N, Shuja J, Naseeb HK, Jan M, Marghazani IB, Kakar M, Baloch DM, Cheema AM, Ahmad J.
    • Asian Pac J Cancer Prev. 2016;17(7):3623-6.
    • Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan.
    • Baloch AH, Khosa AN, Bangulzai N, Shuja J, Naseeb HK, Jan M, Marghazani IB, Kakar MU, Baloch DM, Cheema AM, Ahmad J.
    • Asian Pac J Cancer Prev. 2016;17(3):1089-92.
    • Evaluation of the Relationship Between Family History of Breast Cancer and Risk Perception and Impacts on Repetition of Mammography.
    • Khoshravesh S, Taymoori P, Roshani D.
    • Asian Pac J Cancer Prev. 2016;17 Spec No.:135-41.
    • Breast Cancer in Africa: Limitations and Opportunities for Application of Genomic Medicine.
    • Silverstein A, Sood R, Costas-Chavarri A.
    • Int J Breast Cancer. 2016;2016:4792865. doi: 10.1155/2016/4792865. Epub 2016 Jun 16.
    • [CHEK2-associated hereditary breast cancer].
    • Bessonov AA, Iyevleva AG, Imyanitov EN, Sokolenko AP.
    • Vopr Onkol. 2016;62(6):753-757.
    • Review, [Article in Russian]
    • Clinical relevance of CHEK2 and NBN mutations in the macedonian population.
    • Kostovska IM, Jakimovska M, Kubelka-Sabit K, Karadjozov M, Arsovski A, Stojanovska L, Plaseska-Karanfilska D.
    • Balkan J Med Genet. 2015 Dec 30;18(1):47-54. doi: 10.1515/bjmg-2015-0005. eCollection 2015.
    • Patterns and functional implications of rare germline variants across 12 cancer types.
    • Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, Miller CA, Kanchi KL, Eldred JM, Larson DE, Welch JS, You M, Ozenberger BA, Govindan R, Walter MJ, Ellis MJ, Mardis ER, Graubert TA, Dipersio JF, Ley TJ, Wilson RK, Goodfellow PJ, Raphael BJ, Chen F, Johnson KJ, Parvin JD, Ding L.
    • Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

    Related:

    Press: Study Uncovers Inherited Genetic Susceptibility Across 12 Cancer Types? (DoveMed)

    • [Germline mutations of TP53 gene among Chinese families with high risk for breast cancer].
    • Yang X, Hu Z, Wu J, Liu G, Di G, Chen C, Hou Y, Huang X, Liu Z, Shen Z, Shao Z.
    • Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec 10;32(6):761-5. doi: 10.3760/cma.j.issn.1003-9406.2015.06.001.
    • [Article in Chinese]
    • [PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic].
    • Janatová M, Borecká M, Soukupová J, Kleiblová P, Stříbrná J, Vočka M, Zemánková P, Panczak A, Veselá K, Souček P, Foretová L, Kleibl Z.
    • Klin Onkol. 2015 Winter;29 Suppl 1:31-4.
    • Review, [Article in Czech]
    • Mutation analysis of PALB2 gene in French breast cancer families.
    • Damiola F, Schultz I, Barjhoux L, Sornin V, Dondon MG, Eon-Marchais S, Marcou M; GENESIS Study Investigators, Caron O, Gauthier-Villars M, de Pauw A, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard C, Pujol P, Lasset C, Longy M, Bignon YJ, Fricker JP, Andrieu N, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Muller D.
    • Breast Cancer Res Treat. 2015 Dec;154(3):463-71. doi: 10.1007/s10549-015-3625-7. Epub 2015 Nov 12.
    • Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.
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    Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.

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    • Comment, Letter

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    • Response to "biologic, demographic, and social factors affecting triple negative breast cancer outcomes".
    • [No authors listed]
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    • Comment, Letter

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    • Breast Cancer Risk Gene Discovery: Opportunities and Challenges.
    • Fabienne Lesueur.
    • Current Genetic Medicine Reports 3(2):8-91. 2015 Jun.
    • Review
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    • Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.
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    • Lancet Oncol. 2015 Jun;16(6):638-644. doi: 10.1016/S1470-2045(15)70142-7. Epub 2015 May 7.

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    Comments from NSGC Discussion Forum Cancer SIG

    Subject: PALB2 breast cancer recurrence

    Comment / Letter

    Effect of PALB2 status on breast cancer precision medicine.

    Comment / Letter

    Breast cancer risk in women with PALB2 mutations in different populations.

    Press: PALB2 Gene Mutation May Put Women at Increased Risk of Breast Cancer. (Medscape / Reuters Health)

    • Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population.
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    • Oncol Lett. 2015 Jun;9(6):2787-2790. Epub 2015 Apr 20.
    • Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.
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    • Sci Rep. 2015 May 21;5:10424. doi: 10.1038/srep10424.
    • Two PALB2 germline mutations found in both BRCA1+ and BRCAx familial breast cancer.
    • Downs B, Kim YC, Xiao F, Snyder C, Chen P, Fleissner EA, Becirovic D, Wen H, Sherman S, Cowan KH, Lynch HT, Wang SM.
    • Breast Cancer Res Treat. 2015 May;151(1):219-24. doi: 10.1007/s10549-015-3358-7. Epub 2015 Apr 2.

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    Interpretation of genomic variation and disease association: the great missense mutation challenge!

    • Letters from iceland.
    • [No authors listed]
    • Nat Genet. 2015 Apr 28;47(5):425. doi: 10.1038/ng.3277.

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    Research News

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    • Genotype/Phenotype correlations in patients with hereditary breast cancer.
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    • Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.
    • Leyton Y, Gonzalez-Hormazabal P, Blanco R, Bravo T, Fernandez-Ramires R, Morales S, Landeros N, Reyes JM, Peralta O, Tapia JC, Gomez F, Waugh E, Ibañez G, Pakomio J, Grau G, Jara L.
    • BMC Cancer. 2015 Jan 31;15:30. doi: 10.1186/s12885-015-1033-3.
    • Low Prevalence of CHEK2 Gene Mutations in Multiethnic Cohorts of Breast Cancer Patients in Malaysia.
    • Mohamad S, Isa NM, Muhammad R, Emran NA, Kitan NM, Kang P, Kang IN, Taib NA, Teo SH, Akmal SN.
    • PLoS One. 2015 Jan 28;10(1):e0117104. doi: 10.1371/journal.pone.0117104. eCollection 2015.
    • ATM gene mutations in sporadic breast cancer patients from Brazil.
    • Mangone FR, Miracca EC, Feilotter HE, Mulligan LM, Nagai MA.
    • Springerplus. 2015 Jan 15;4:23. doi: 10.1186/s40064-015-0787-z. eCollection 2015.
    • PALB2 and the Risks for Cancer: Implications for Clinical Care.
    • Smith EC.
    • Oncol Nurs Forum. 2015 Jan 1;42(1):100-2. doi: 10.1188/15.ONF.100-102.
    • Review
    • Considerations for comprehensive assessment of genetic predisposition in familial breast cancer.
    • Lynch H, Synder C, Wang SM.
    • Breast J. 2015 Jan-Feb;21(1):67-75. doi: 10.1111/tbj.12358. Epub 2014 Dec 4.
    • Review
    • Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
    • Nguyen-Dumont T, Hammet F, Mahmoodi M, Tsimiklis H, Teo ZL, Li R, Pope BJ, Terry MB, Buys SS, Daly M, Hopper JL, Winship I, Goldgar DE, Park DJ, Southey MC.
    • Breast Cancer Res Treat. 2015 Jan;149(2):547-54. doi: 10.1007/s10549-014-3260-8. Epub 2015 Jan 10.
    • Beyond BRCA: new hereditary breast cancer susceptibility genes.
    • Economopoulou P, Dimitriadis G, Psyrri A.
    • Cancer Treat Rev. 2015 Jan;41(1):1-8. doi: 10.1016/j.ctrv.2014.10.008. Epub 2014 Nov 6.
    • Review
    • Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.
    • Somyajit K, Mishra A, Jameei A, Nagaraju G.
    • Carcinogenesis. 2015 Jan;36(1):13-24. doi: 10.1093/carcin/bgu211. Epub 2014 Oct 7.
    • Breast Cancer Susceptibility Genes.
    • Apostolou P, Vratimos A, Fostira F.
    • eLS. 2015 Jan. doi: 10.1002/9780470015902.a0025847.
    • Review
    • The spectrum of genetic mutations in breast cancer.
    • Sheikh A, Hussain SA, Ghori Q, Naeem N, Fazil A, Giri S, Sathian B, Mainali P, Al Tamimi DM.
    • Asian Pac J Cancer Prev. 2015;16(6):2177-85.
    • Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes.
    • Toss A, Tomasello C, Razzaboni E, Contu G, Grandi G, Cagnacci A, Schilder RJ, Cortesi L.
    • Biomed Res Int. 2015;2015:341723. Epub 2015 May 17.
    • Association between Neurofibromatosis Type 1 and Breast Cancer: A Report of Two Cases with a Review of the Literature.
    • Seo YN, Park YM.
    • Case Rep Med. 2015;2015:456205. doi: 10.1155/2015/456205. Epub 2015 Oct 29.
    • [CHEK2-mutation in Dutch breast cancer families: expanding genetic testing for breast cancer].
    • Adank MA, Hes FJ, van Zelst-Stams WA, van den Tol MP, Seynaeve C, Oosterwijk JC.
    • Ned Tijdschr Geneeskd. 2015;159:A8910.
    • Review, [Article in Dutch]
    • Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial breast cancer.
    • Cao WM, Gao Y, Yang HJ, Xie SN, Meng XL, Pan ZW, Chen ZH, Huang J, Ye WW, Shao XY, Wang XJ.
    • Genet Mol Res. 2014 Dec 18;13(4):10754-60. doi: 10.4238/2014.December.18.16.
    • Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.
    • Boesaard EP, Vogelaar IP, Bult P, Wauters CA, van Krieken JH, Ligtenberg MJ, van der Post RS, Hoogerbrugge N.
    • Hered Cancer Clin Pract. 2014 Dec 12;12(1):21. doi: 10.1186/1897-4287-12-21. eCollection 2014.
    • The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population.
    • Anisimenko MS, Kozyakov AE, Paul GA, Kovalenko SP.
    • Breast Cancer Res Treat. 2014 Dec;148(3):689-90. doi: 10.1007/s10549-014-3187-0. Epub 2014 Nov 16.
    • Letter, Comment

    Related:

    Meta-Analysis:

    Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

    Letter, Comment:

    The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia.

    • The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia.
    • Imyanitov E, Prokofyeva D, Bogdanova N, Dörk T.
    • Breast Cancer Res Treat. 2014 Dec;148(3):695-6. doi: 10.1007/s10549-014-3198-x.
    • Letter, Comment

    Related:

    Letter, Comment:

    The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population.

    Meta-Analysis:

    Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

    • Breast cancer genes: looking for BRACA's lost brother.
    • Cornejo-Moreno BA, Uribe-Escamilla D, Salamanca-Gómez F.
    • Isr Med Assoc J. 2014 Dec;16(12):787-92.
    • Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.
    • Al-Alem U, Rauscher G, Shah E, Batai K, Mahmoud A, Beisner E, Silva A, Peterson C, Kittles R.
    • PLoS One. 2014 Nov 25;9(11):e112916. doi: 10.1371/journal.pone.0112916. eCollection 2014.
    • Breast Cancer Risk Associated With CHEK2 Mutations.
    • Mahon SM.
    • Oncol Nurs Forum. 2014 Nov 1;41(6):692-4. doi: 10.1188/14.ONF.692-694.
    • Beyond BRCA1 and BRCA2.
    • King-Spohn K, Pilarski R.
    • Curr Probl Cancer. 2014 Nov-Dec;38(6):235-48. doi: 10.1016/j.currproblcancer.2014.10.004. Epub 2014 Nov 1.
    • Case report
    • Germline mutations in cancer susceptibility genes in brca1 and brca2 negative families with ovarian and breast cancer.
    • Norquist B, Harrell M, Walsh T, Mandell J, Agnew K, Lee M, Pennington K, King MC, Swisher E.
    • Gynecologic Oncology. 2014 Nov;135(2):383. 2014 WAGO ABSTRACTS. doi: 10.1016/j.ygyno.2014.07.011.
    • Conference abstract
    • Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.
    • Minion L, Dolinsky J, Chao E, Monk B.
    • Gynecologic Oncology. 2014 Nov;135(2):383-4. 2014 WAGO ABSTRACTS. doi: 10.1016/j.ygyno.2014.07.012.
    • Conference abstract
    • Features of ovarian cancer in Lynch syndrome (Review).
    • Nakamura K, Banno K, Yanokura M, Iida M, Adachi M, Masuda K, Ueki A, Kobayashi Y, Nomura H, Hirasawa A, Tominaga E, Aoki D.
    • Mol Clin Oncol. 2014 Nov;2(6):909-916. Epub 2014 Aug 20.
    • Breast-cancer risk in families with mutations in PALB2.
    • Sopik V, Narod SA.
    • N Engl J Med. 2014 Oct 23;371(17):1650. doi: 10.1056/NEJMc1410673#SA1.

    Related:

    Breast-cancer risk in families with mutations in PALB2.

    Letter, Comment:

    Breast-cancer risk in families with mutations in PALB2.

    • Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.
    • Brosh RM Jr, Cantor SB.
    • Front Genet. 2014 Oct 21;5:372. doi: 10.3389/fgene.2014.00372. eCollection 2014.
    • Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.
    • Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Bützow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomäki K, Nevanlinna H.
    • Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):15172-7. doi: 10.1073/pnas.1407909111. Epub 2014 Oct 6.
    • Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.
    • Felix GE, Abe-Sandes C, Machado-Lopes TM, Bomfim TF, Guindalini RS, Santos VC, Meyer L, Oliveira PC, Cláudio Neiva J, Meyer R, Romeo M, Betânia Toralles M, Nascimento I, Abe-Sandes K.
    • Hum Genome Var. 2014 Oct 16;1:14012. doi: 10.1038/hgv.2014.12. eCollection 2014.
    • Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.
    • Park JY, Singh TR, Nassar N, Zhang F, Freund M, Hanenberg H, Meetei AR, Andreassen PR.
    • Oncogene. 2014 Oct 2;33(40):4803-12. doi: 10.1038/onc.2013.421. Epub 2013 Oct 21.
    • Partner and Localizer of BRCA-2 (PALB-2) Mutation Analysis Is Rapidly Being Adopted into Clinical Practice.
    • Erel S, Thull DL, Soran A.
    • J Breast Health (2013). 2014 Oct 1;10(4):189. doi: 10.5152/tjbh.2014.0079. eCollection 2014.

    Related:

    Breast-cancer risk in families with mutations in PALB2.

    • Breast cancer: PALB2--a new player in hereditary breast cancer.
    • Errico A.
    • Nat Rev Clin Oncol. 2014 Oct;11(10):560. doi: 10.1038/nrclinonc.2014.142. Epub 2014 Aug 19.
    • Comment

    Related:

    Breast-cancer risk in families with mutations in PALB2.

    Letter, Comment:

    Breast-cancer risk in families with mutations in PALB2.

    • Fanconi anemia pathway defects in inherited and sporadic cancers.
    • Chen H, Zhang S, Wu Z.
    • Transl Pediatr. 2014 Oct;3(4):300-4. doi: 10.3978/j.issn.2224-4336.2014.07.05.
    • The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
    • Song H, Cicek MS, Dicks E, Harrington P, Ramus SJ, Cunningham JM, Fridley BL, Tyrer JP, Alsop J, Jimenez-Linan M, Gayther SA, Goode EL, Pharoah PD.
    • Hum Mol Genet. 2014 Sep 1;23(17):4703-9. doi: 10.1093/hmg/ddu172. Epub 2014 Apr 12.
    • The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diagnosed with breast cancer.
    • Giacomazzi J, Correia RL, Palmero EI, Gaspar JF, Almeida M, Portela C, Camey SA, Monteiro A, Pinheiro M, Peixoto A, Teixeira MR, Reis RM, Ashton-Prolla P.
    • Breast J. 2014 Sep-Oct;20(5):534-6. doi: 10.1111/tbj.12308. Epub 2014 Jul 23.
    • The histomorphology of Lynch syndrome-associated ovarian carcinomas: toward a subtype-specific screening strategy.
    • Chui MH, Ryan P, Radigan J, Ferguson SE, Pollett A, Aronson M, Semotiuk K, Holter S, Sy K, Kwon JS, Soma A, Singh N, Gallinger S, Shaw P, Arseneau J, Foulkes WD, Gilks CB, Clarke BA.
    • Am J Surg Pathol. 2014 Sep;38(9):1173-81. doi: 10.1097/PAS.0000000000000298.
    • PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
    • Catucci I, Peterlongo P, Ciceri S, Colombo M, Pasquini G, Barile M, Bonanni B, Verderio P, Pizzamiglio S, Foglia C, Falanga A, Marchetti M, Galastri L, Bianchi T, Corna C, Ravagnani F, Bernard L, Fortuzzi S, Sardella D, Scuvera G, Peissel B, Manoukian S, Tondini C, Radice P.
    • Genet Med. 2014 Sep;16(9):688-94. doi: 10.1038/gim.2014.13. Epub 2014 Feb 20.
    • Genetic/Familial high-risk assessment: breast and ovarian, version 1.2014.
    • Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R.
    • J Natl Compr Canc Netw. 2014 Sep;12(9):1326-38.
    • Practice Guideline, NCCN Guidelines
    • PALB2 gene increases breast cancer risk.
    • Tanday S.
    • Lancet Oncol. 2014 Sep;15(10):e423.
    • News
    • Germline mutations of TP53 gene in breast cancer.
    • Damineni S, Rao VR, Kumar S, Ravuri RR, Kagitha S, Dunna NR, Digumarthi R, Satti V.
    • Tumour Biol. 2014 Sep;35(9):9219-27. doi: 10.1007/s13277-014-2176-6. Epub 2014 Jun 15.
    • Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.
    • Gevensleben H, Bossung V, Meindl A, Wappenschmidt B, de Gregorio N, Osorio A, Romero A, Buettner R, Markiefka B, Schmutzler RK.
    • Virchows Arch. 2014 Sep;465(3):365-9. doi: 10.1007/s00428-014-1619-1. Epub 2014 Jul 4.
    • Letter
    • Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.
    • Hartley T, Cavallone L, Sabbaghian N, Silva-Smith R, Hamel N, Aleynikova O, Smith E, Hastings V, Pinto P, Tischkowitz M, Tomiak E, Foulkes WD.
    • Hered Cancer Clin Pract. 2014 Aug 28;12(1):19. doi: 10.1186/1897-4287-12-19. eCollection 2014.
    • Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy.
    • Kriege M, Hollestelle A, Jager A, Huijts PE, Berns EM, Sieuwerts AM, Meijer-van Gelder ME, Collée JM, Devilee P, Hooning MJ, Martens JW, Seynaeve C.
    • Br J Cancer. 2014 Aug 26;111(5):1004-1013. doi: 10.1038/bjc.2014.306. Epub 2014 Jun 10.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: risk for second primary in CHEK2?

    Subject: Risk of 2nd breast cancer in CHEk2 family

    • Breast-cancer risk in families with mutations in PALB2.
    • Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M.
    • N Engl J Med. 2014 Aug 7;371(6):497-506. doi: 10.1056/NEJMoa1400382.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Negative for familial PALB2 mutation

    Subject: Initial and reflex testing to guide surgical decisions

    Comment, Editorial:

    PALB2 mutations and breast-cancer risk.

    Letters:

    Breast-cancer risk in families with mutations in PALB2.

    Letter, Review:

    Partner and Localizer of BRCA-2 (PALB-2) Mutation Analysis Is Rapidly Being Adopted into Clinical Practice.

    Research News: PALB2 and Breast Cancer Risk (FORCE)

    Press: New breast cancer gene mutation found to raise risk. (Yahoo! News)

    Press: Another Gene Mutation Increases Breast Cancer Risk. (Medscape Oncology)

    Press: PALB2 gene dramatically increases breast cancer risk. (PHG Foundation)

    Press: Study Shows Third Gene as Indicator for Breast Cancer (NY Times)

    • RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
    • Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J, Carracedo A, Diez O, Vega A.
    • Breast Cancer Res Treat. 2014 Aug;147(1):133-43. doi: 10.1007/s10549-014-3078-4. Epub 2014 Aug 3.
    • Sequence-based detection of mutations in cadherin 1 to determine the prevalence of germline mutations in patients with invasive lobular carcinoma of the breast.
    • Valente AL, Rummel S, Shriver CD, Ellsworth RE.
    • Hered Cancer Clin Pract. 2014 Jul 19;12(1):17. doi: 10.1186/1897-4287-12-17. eCollection 2014.
    • First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.
    • Tedaldi G, Danesi R, Zampiga V, Tebaldi M, Bedei L, Zoli W, Amadori D, Falcini F, Calistri D.
    • BMC Cancer. 2014 Jul 1;14(1):478. doi: 10.1186/1471-2407-14-478.
    • Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer.
    • Bell K, Hodgson N, Levine M, Sadikovic B, Zbuk K.
    • Breast Cancer Res Treat. 2014 Jul;146(2):447-50. doi: 10.1007/s10549-014-3011-x. Epub 2014 Jun 12.
    • Case report
    • Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
    • Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE.
    • Cancer Discov. 2014 Jul;4(7):804-15. doi: 10.1158/2159-8290.CD-14-0212. Epub 2014 May 2.

    Related:

    Comment:

    BluepRINT for moderate-to-low penetrance cancer susceptibility genes needed: breast cancer and beyond.

    • Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome.
    • Krzystolik K, Jakubowska A, Gronwald J, Krawczyński MR, Drobek-Słowik M, Sagan L, Cyryłowski L, Lubiński W, Lubiński J, Cybulski C.
    • Hered Cancer Clin Pract. 2014 Jun 18;12(1):16. doi: 10.1186/1897-4287-12-16. eCollection 2014.
    • Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line.
    • Schröder-Heurich B, Bogdanova N, Wieland B, Xie X, Noskowicz M, Park-Simon TW, Hillemanns P, Christiansen H, Dörk T.
    • BMC Cancer. 2014 Jun 13;14:434. doi: 10.1186/1471-2407-14-434.
    • Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
    • Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, Andrulis IL, John EM, Goldgar DE, Lesueur F, Tavtigian SV.
    • Breast Cancer Res. 2014 Jun 3;16(3):R58. doi: 10.1186/bcr3669.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.
    • Rashid MU, Muhammad N, Faisal S, Amin A, Hamann U.
    • Breast Cancer Res Treat. 2014 Jun;145(3):775-84. doi: 10.1007/s10549-014-2972-0. Epub 2014 May 7.
    • Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations.
    • Sokolenko AP, Bogdanova N, Kluzniak W, Preobrazhenskaya EV, Kuligina ES, Iyevleva AG, Aleksakhina SN, Mitiushkina NV, Gorodnova TV, Bessonov AA, Togo AV, Lubiński J, Cybulski C, Jakubowska A, Dörk T, Imyanitov EN.
    • Breast Cancer Res Treat. 2014 Jun;145(2):553-62. doi: 10.1007/s10549-014-2971-1. Epub 2014 May 7.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA and CHEK2

    Subject: Dbl heterzygote article

    • Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe.
    • Noskowicz M, Bogdanova N, Bermisheva M, Takhirova Z, Antonenkova N, Khusnutdinova E, Bremer M, Christiansen H, Park-Simon TW, Hillemanns P, Dörk T.
    • Fam Cancer. 2014 Jun;13(2):137-42. doi: 10.1007/s10689-013-9684-1.
    • Expanding the genetic basis of copy number variation in familial breast cancer.
    • Masson AL, Talseth-Palmer BA, Evans TJ, Grice DM, Hannan GN, Scott RJ.
    • Hered Cancer Clin Pract. 2014 May 24;12(1):15. doi: 10.1186/1897-4287-12-15. eCollection 2014.
    • Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
    • Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM.
    • BMC Med Genet. 2014 May 15;15:55. doi: 10.1186/1471-2350-15-55.
    • High prevalence of GPRC5A germline mutations in BRCA1-mutant breast cancer patients.
    • Sokolenko AP, Bulanova DR, Iyevleva AG, Aleksakhina SN, Preobrazhenskaya EV, Ivantsov AO, Kuligina ESh, Mitiushkina NV, Suspitsin EN, Yanus GA, Zaitseva OA, Yatsuk OS, Togo AV, Kota P, Dixon JM, Larionov AA, Kuznetsov SG, Imyanitov EN.
    • Int J Cancer. 2014 May 15;134(10):2352-8. doi: 10.1002/ijc.28569. Epub 2014 Jan 27.
    • About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
    • Gutiérrez-Enríquez S, Bonache S, de Garibay GR, Osorio A, Santamariña M, Ramón y Cajal T, Esteban-Cardeñosa E, Tenés A, Yanowsky K, Barroso A, Montalban G, Blanco A, Cornet M, Gadea N, Infante M, Caldés T, Díaz-Rubio E, Balmaña J, Lasa A, Vega A, Benítez J, de la Hoya M, Diez O.
    • Int J Cancer. 2014 May 1;134(9):2088-97.
    • MUTATION ANALYSIS FOR BRIP1 IN KOREAN PATIENTS WITH BRCA1/2 MUTATIONS-NEGATIVE HIGH-RISK BREAST CANCER.
    • H. Kim, D. Cho, D.H. Choi, W. Park, S.J. Huh.
    • Ann Oncol (2014 May) 25 (suppl 1): i6-i7. doi: 10.1093/annonc/mdu065.7. IMPAKT Breast Cancer Conference, 8–10 May 2014, Brussels, Belgium.
    • Conference Abstract
    • Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
    • Ramos P, Karnezis AN, Craig DW, Sekulic A, Russell ML, Hendricks WP, Corneveaux JJ, Barrett MT, Shumansky K, Yang Y, Shah SP, Prentice LM, Marra MA, Kiefer J, Zismann VL, McEachron TA, Salhia B, Prat J, D'Angelo E, Clarke BA, Pressey JG, Farley JH, Anthony SP, Roden RB, Cunliffe HE, Huntsman DG, Trent JM.
    • Nat Genet. 2014 May;46(5):427-9. doi: 10.1038/ng.2928. Epub 2014 Mar 23.

    Related:

    Comment:

    Genetics: SMARCA4 mutated in SCCOHT.

    • Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
    • Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD.
    • Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: SMARCA4

    News

    SMARCA4 mutated in SCCOHT

    • Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
    • Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.
    • PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014.
    • Breast cancer genes: Beyond BRCA1 and BRCA2.
    • Tabitha M. Powledge.
    • Genetic Literacy Project, 2014 Apr 8.
    • A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.
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    Related:

    Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.

    • Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.
    • Fernandes PH, Saam J, Peterson J, Hughes E, Kaldate R, Cummings S, Theisen A, Chen S, Trost J, Roa BB.
    • Cancer. 2014 Apr 1;120(7):963-7. doi: 10.1002/cncr.28504. Epub 2014 Jan 10.

    Related:

    Editorial, Commentary:

    Genetic predisposition to breast cancer: The next chapters.

    • Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.
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    • Review
    • Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.
    • Baloch AH, Daud S, Raheem N, Luqman M, Ahmad A, Rehman A, Shuja J, Rasheed S, Ali A, Kakar N, Naseeb HK, Mengal MA, Awan MA, Wasim M, Baloch DM, Ahmad J.
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    • RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families.
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    • Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer.
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    • A Two-Stage Association Study Suggests BRAP as a Susceptibility Gene for Schizophrenia.
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    • [Frequency of CHEK2 gene mutations in patients with breast cancer from the Republic of Bashkortostan].
    • [No authors listed]
    • Mol Biol (Mosk). 2014 Jan-Feb;48(1):55-61.
    • [Article in Russian]
    • CHEK2*1100delC homozygosity in the Netherlands-prevalence and risk of breast and lung cancer.
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    • PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.
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    Related:

    Letter, Comment:

    RE: PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.

    Letter, Reply:

    Response.

    Editorial/Comment:

    Molecular wanderings through the DNA damage response and risk for ovarian cancer.

    • Molecular wanderings through the DNA damage response and risk for ovarian cancer.
    • Bookman MA.
    • J Natl Cancer Inst. 2014 Jan;106(1):djt350. doi: 10.1093/jnci/djt350. Epub 2013 Nov 21.

    Related:

    PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.

    • Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germ-line mutation and non-CHEK2 somatic mutation gene signatures.
    • Ow GS, Ivshina AV, Fuentes G, Kuznetsov VA.
    • Cell Cycle. 2014;13(14):2262-80. doi: 10.4161/cc.29271. Epub 2014 May 30.
    • RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
    • Schnurbein G, Hauke J, Wappenschmidt B, Weber-Lassalle N, Engert S, Hellebrand H, Garbes L, Becker A, Neidhardt G, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
    • Breast Cancer Res. 2013 Dec 20;15(6):R120. doi: 10.1186/bcr3589.
    • Genetic Ancestry and Risk of Mortality among U.S. Latinas with Breast Cancer.
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    • Cancer Res. 2013 Dec 15;73(24):7243-53. doi: 10.1158/0008-5472.CAN-13-2014. Epub 2013 Oct 31.
    • A common nonsense mutation of the BLM gene and prostate cancer risk and survival.
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    • Gene. 2013 Dec 15;532(2):173-6. doi: 10.1016/j.gene.2013.09.079. Epub 2013 Oct 2.
    • Increase in breast cancer gene screening: the Angelina Jolie effect.
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    • The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer.
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    • The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia.
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    • Letter
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    • Hum Mutat. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7.
    • Factors associated with breast cancer in Puerto Rican women.
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    • SEPP1 influences breast cancer risk among women with greater native american ancestry: the breast cancer health disparities study.
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    • Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
    • Nguyen-Dumont T, Teo ZL, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Sabbaghian N, Tischkowitz M, Foulkes WD; Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab), Giles GG, Hopper JL; Australian Breast Cancer Family Registry, Southey MC, Park DJ.
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    • Identifying lynch syndrome in patients with ovarian carcinoma: the significance of tumor subtype.
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    • Review
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    • The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?
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    • Can selenium be a modifier of cancer risk in CHEK2 mutation carriers?
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    • Researchers Spar Over Tests for Breast Cancer Risks.
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    • Clinical characteristics of breast cancer in patients with an NBS1 mutation.
    • Huzarski T, Cybulski C, Jakubowska A, Byrski T, Gronwald J, Domagała P, Szwiec M, Godlewski D, Kilar E, Marczyk E, Siołek M, Gorski B, Wiśniowski R, Janiszewska H, Surdyka D, Sibilski R, Sun P, Narod SA, Lubiński J; Polish Breast Cancer Consortium.
    • Breast Cancer Res Treat. 2013 Oct;141(3):471-6. doi: 10.1007/s10549-013-2692-x. Epub 2013 Sep 27.
    • Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.
    • Guglielmi C, Cerri I, Evangelista M, Collavoli A, Tancredi M, Aretini P, Caligo MA.
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    • Germline mutations in dna repair genes in women with ovarian, peritoneal, or fallopian tube cancer treated on GOG protocol 218.
    • Norquist B, Harrell M, Walsh T, Lee MK, King MC, Swisher EM, Birrer MJ.
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    • Conference abstract
    • Retrospective analysis of clinicopathological characteristics and family history data of early-onset breast cancer: a single-institutional study of Hungarian patients.
    • Madaras L, Baranyák Z, Kulka J, Szász AM, Kovács A, Lan PH, Székely B, Dank M, Nagy T, Kiss O, Harsányi L, Barbai T, Kenessey I, Tőkés AM.
    • Pathol Oncol Res. 2013 Oct;19(4):723-9. doi: 10.1007/s12253-013-9635-z. Epub 2013 May 26.
    • Hereditary breast cancer: ever more pieces to the polygenic puzzle.
    • Bogdanova N, Helbig S, Dörk T.
    • Hered Cancer Clin Pract. 2013 Sep 11;11(1):12. doi: 10.1186/1897-4287-11-12.
    • Can Unknown Predisposition in Familial Breast Cancer be Family-Specific?
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    • Breast cancer in Arab populations: molecular characteristics and disease management implications.
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    • Lancet Oncol. 2013 Sep;14(10):e417-24. doi: 10.1016/S1470-2045(13)70165-7.
    • Review

    Related:

    Letter, Comment:

    Perspectives on breast cancer in Arab populations.

    • Hereditary breast and ovarian cancer susceptibility genes (Review).
    • Kobayashi H, Ohno S, Sasaki Y, Matsuura M.
    • Oncol Rep. 2013 Sep;30(3):1019-29. doi: 10.3892/or.2013.2541. Epub 2013 Jun 19.
    • Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.
    • Phuah SY, Lee SY, Kang P, Kang IN, Yoon SY, Thong MK, Hartman M, Sng JH, Yip CH, Taib NA, Teo SH.
    • PLoS One. 2013 Aug 20;8(8):e73638. doi: 10.1371/journal.pone.0073638. eCollection 2013.
    • Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.
    • Haanpää M, Pylkäs K, Moilanen JS, Winqvist R.
    • BMC Med Genet. 2013 Aug 13;14:82. doi: 10.1186/1471-2350-14-82.
    • copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer.
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    • PLoS One. 2013 Aug 13;8(8):e71802. doi: 10.1371/journal.pone.0071802. eCollection 2013.
    • Autophagy Opposes p53-Mediated Tumor Barrier to Facilitate Tumorigenesis in a Model of PALB2-Associated Hereditary Breast Cancer.
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    • Cancer Discov. 2013 Aug;3(8):894-907. doi: 10.1158/2159-8290.CD-13-0011. Epub 2013 May 6.
    • Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.
    • de Garibay GR, Díaz A, Gaviña B, Romero A, Garre P, Vega A, Blanco A, Tosar A, Díez O, Pérez-Segura P, Díaz-Rubio E, Caldés T, de la Hoya M.
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    • The complex genetic landscape of familial breast cancer.
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    • Review
    • Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases.
    • Blanco A, de la Hoya M, Osorio A, Diez O, Miramar MD, Infante M, Martinez-Bouzas C, Torres A, Lasa A, Llort G, Brunet J, Graña B, Perez Segura P, Garcia MJ, Gutiérrez-Enríquez S, Carracedo A, Tejada MI, Velasco EA, Calvo MT, Balmaña J, Benitez J, Caldés T, Vega A.
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    • PALB2 and breast cancer: ready for clinical translation!
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    • Appl Clin Genet. 2013 Jul 19;6:43-52. doi: 10.2147/TACG.S34116. Print 2013.
    • Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report.
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    • Tumour morphology predicts PALB2 germline mutation status.
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    • Br J Cancer. 2013 Jul 9;109(1):154-63. doi: 10.1038/bjc.2013.295. Epub 2013 Jun 20.
    • CHEK2 1100delC and Del5395bp mutations in BRCA-negative individuals from Serbian hereditary breast and ovarian cancer families.
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    • Relationship between family history of breast cancer and clinicopathological features in moroccan patients.
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    • Assessment of SLX4 Mutations in Hereditary Breast Cancers.
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    • COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
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    • Breast Cancer Res. 2013 Jun 21;15(3):402. doi: 10.1186/bcr3434.
    • Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest.
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    • Hum Mol Genet. 2013 Jun 15;22(12):2451-61. doi: 10.1093/hmg/ddt097. Epub 2013 Feb 27.
    • Breast cancer genes: beyond BRCA1 and BRCA2.
    • Filippini SE, Vega A.
    • Front Biosci (Landmark Ed). 2013 Jun 1;18:1358-72.
    • Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.
    • Campos B, Balmaña J, Gardenyes J, Valenzuela I, Abad O, Fàbregas P, Volpini V, Díez O.
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    • Case report
    • The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis.
    • Han FF, Guo CL, Liu LH.
    • DNA Cell Biol. 2013 Jun;32(6):329-35. doi: 10.1089/dna.2013.1970. Epub 2013 May 13.
    • Meta-Analysis

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: CHEK2 c.470T>C

    Subject: CHEK2 p.I157T mutation?

    • Prevalence of germline TP53 mutations in HER2+ breast cancer patients.
    • Rath MG, Masciari S, Gelman R, Miron A, Miron P, Foley K, Richardson AL, Krop IE, Verselis SJ, Dillon DA, Garber JE.
    • Breast Cancer Res Treat. 2013 May;139(1):193-8. doi: 10.1007/s10549-012-2375-z. Epub 2013 Apr 12.
    • Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases.
    • Adank MA, Verhoef S, Oldenburg RA, Schmidt MK, Hooning MJ, Martens JW, Broeks A, Rookus M, Waisfisz Q, Witte BI, Jonker MA, Meijers-Heijboer H.
    • Eur J Cancer. 2013 May;49(8):1993-9. doi: 10.1016/j.ejca.2013.01.009. Epub 2013 Feb 14.
    • A Protein Prioritization Approach Tailored for the FA/BRCA Pathway.
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    • A Common Deletion in the APOBEC3 Genes and Breast Cancer Risk.
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    • J Natl Cancer Inst. 2013 Apr 17;105(8):573-579. Epub 2013 Feb 14.
    • No evidence for PALB2 methylation in high-grade serous ovarian cancer.
    • Mikeska T, Alsop K; Australian Ovarian Cancer Study Group, Mitchell G, Bowtell DD, Dobrovic A.
    • J Ovarian Res. 2013 Apr 12;6(1):26. doi: 10.1186/1757-2215-6-26.
    • Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy.
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    • Breast Cancer Res Treat. 2013 Apr;138(3):861-8. doi: 10.1007/s10549-013-2459-4. Epub 2013 Mar 7.
    • Germline RAD51C mutations in ovarian cancer susceptibility.
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    • iCOGS collection provides a collaborative model.
    • Bahcall OG.
    • Nat Genet. 2013 Apr;45(4):343. doi: 10.1038/ng.2592.
    • Introductory article

    Related:

    Blog post: 74 new susceptibility genes found for breast, ovarian and prostate cancer. (Nature Medicine | Spoonful of Medicine)

    • Turning of COGS moves forward findings for hormonally mediated cancers.
    • Sakoda LC, Jorgenson E, Witte JS.
    • Nat Genet. 2013 Apr;45(4):345-8. doi: 10.1038/ng.2587.
    • Introductory article
    • Public health implications from COGS and potential for risk stratification and screening.
    • Burton H, Chowdhury S, Dent T, Hall A, Pashayan N, Pharoah P.
    • Nat Genet. 2013 Apr;45(4):349-51. doi: 10.1038/ng.2582.
    • Introductory article, Commentary

    Related:

    Press: New Genetic Findings Should Revolutionize Cancer Screening. (Medscape Oncology)

    News: Our commentary in new Nature Genetics special issue. (PHG Foundation)

    • Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    • Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N; Breast and Ovarian Cancer Susceptibility Collaboration, Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Hopper JL, Southey MC, Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA, Glendon G, Mulligan AM; kConFab Investigators; stralian Ovarian Cancer Study Group, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Müller H, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Brüning T; GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Radice P, Peterlongo P, Manoukian S, Bonanni B, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dörk T, Kristensen VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J, Easton DF.
    • Nat Genet. 2013 Apr;45(4):353-61. doi: 10.1038/ng.2563.
    • GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    • Pharoah PD, Tsai YY, Ramus SJ, Phelan CM, Goode EL, Lawrenson K, Buckley M, Fridley BL, Tyrer JP, Shen H, Weber R, Karevan R, Larson MC, Song H, Tessier DC, Bacot F, Vincent D, Cunningham JM, Dennis J, Dicks E; stralian Cancer Study; stralian Ovarian Cancer Study Group, Aben KK, Anton-Culver H, Antonenkova N, Armasu SM, Baglietto L, Bandera EV, Beckmann MW, Birrer MJ, Bloom G, Bogdanova N, Brenton JD, Brinton LA, Brooks-Wilson A, Brown R, Butzow R, Campbell I, Carney ME, Carvalho RS, Chang-Claude J, Chen YA, Chen Z, Chow WH, Cicek MS, Coetzee G, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher D, Flanagan J, Gao YT, Garcia-Closas M, Gentry-Maharaj A, Giles G, Gjyshi A, Gore M, Gronwald J, Guo Q, Halle MK, Harter P, Hein A, Heitz F, Hillemanns P, Hoatlin M, Høgdall E, Høgdall CK, Hosono S, Jakubowska A, Jensen A, Kalli KR, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Konecny GE, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee N, Lee J, Leminen A, Lim BK, Lissowska J, Lubiński J, Lundvall L, Lurie G, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod SA, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC, Poole EM, Qu X, Risch HA, Rodriguez-Rodriguez L, Rossing MA, Rudolph A, Runnebaum I, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shen H, Shridhar V, Shu XO, Sieh W, Southey MC, Spellman P, Tajima K, Teo SH, Terry KL, Thompson PJ, Timorek A, Tworoger SS, van Altena AM, van den Berg D, Vergote I, Vierkant RA, Vitonis AF, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wik E, Winterhoff B, Woo YL, Wu AH, Yang HP, Zheng W, Ziogas A, Zulkifli F, Goodman MT, Hall P, Easton DF, Pearce CL, Berchuck A, Chenevix-Trench G, Iversen E, Monteiro AN, Gayther SA, Schildkraut JM, Sellers TA.
    • Nat Genet. 2013 Apr;45(4):362-70. doi: 10.1038/ng.2564.

    Related:

    Press: Risk Of Ovarian Cancer Increased By 5 Genetic Variations. (Medical News Today)

    • Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.
    • Permuth-Wey J, Lawrenson K, Shen HC, Velkova A, Tyrer JP, Chen Z, Lin HY, Ann Chen Y, Tsai YY, Qu X, Ramus SJ, Karevan R, Lee J, Lee N, Larson MC, Aben KK, Anton-Culver H, Antonenkova N, Antoniou AC, Armasu SM; stralian Cancer Study; stralian Ovarian Cancer Study, Bacot F, Baglietto L, Bandera EV, Barnholtz-Sloan J, Beckmann MW, Birrer MJ, Bloom G, Bogdanova N, Brinton LA, Brooks-Wilson A, Brown R, Butzow R, Cai Q, Campbell I, Chang-Claude J, Chanock S, Chenevix-Trench G, Cheng JQ, Cicek MS, Coetzee GA; Consortium of Investigators of Modifiers of BRCA1/2, Cook LS, Couch FJ, Cramer DW, Cunningham JM, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Easton DF, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher DA, Flanagan JM, Garcia-Closas M, Gentry-Maharaj A, Giles GG, Glasspool RM, Gonzalez-Bosquet J, Goodman MT, Gore M, Górski B, Gronwald J, Hall P, Halle MK, Harter P, Heitz F, Hillemanns P, Hoatlin M, Høgdall CK, Høgdall E, Hosono S, Jakubowska A, Jensen A, Jim H, Kalli KR, Karlan BY, Kaye SB, Kelemen LE, Kiemeney LA, Kikkawa F, Konecny GE, Krakstad C, Krüger Kjaer S, Kupryjanczyk J, Lambrechts D, Lambrechts S, Lancaster JM, Le ND, Leminen A, Levine DA, Liang D, Kiong Lim B, Lin J, Lissowska J, Lu KH, Lubiński J, Lurie G, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod SA, Nedergaard L, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson SH, Orlow I, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Raska P, Renner SP, Risch HA, Rodriguez-Rodriguez L, Anne Rossing M, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shridhar V, Shu XO, Shvetsov YB, Sieh W, Song H, Southey MC, Spiewankiewicz B, Stram D, Sutphen R, Teo SH, Terry KL, Tessier DC, Thompson PJ, Tworoger SS, van Altena AM, Vergote I, Vierkant RA, Vincent D, Vitonis AF, Wang-Gohrke S, Palmieri Weber R, Wentzensen N, Whittemore AS, Wik E, Wilkens LR, Winterhoff B, Ling Woo Y, Wu AH, Xiang YB, Yang HP, Zheng W, Ziogas A, Zulkifli F, Phelan CM, Iversen E, Schildkraut JM, Berchuck A, Fridley BL, Goode EL, Pharoah PD, Monteiro AN, Sellers TA, Gayther SA.
    • Nat Commun. 2013 Mar 27;4:1627. doi: 10.1038/ncomms2613.

    Related:

    Press: Risk Of Ovarian Cancer Increased By 5 Genetic Variations. (Medical News Today)

    • Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil.
    • Carraro DM, Koike Folgueira MA, Garcia Lisboa BC, Ribeiro Olivieri EH, Vitorino Krepischi AC, de Carvalho AF, de Carvalho Mota LD, Puga RD, do Socorro Maciel M, Michelli RA, de Lyra EC, Grosso SH, Soares FA, de Souza Waddington Achatz MI, Brentani H, Moreira-Filho CA, Brentani MM.
    • PLoS One. 2013;8(3):e57581. doi: 10.1371/journal.pone.0057581. Epub 2013 Mar 1.
    • HOXB13 G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk.
    • Laitinen VH, Wahlfors T, Saaristo L, Rantapero T, Pelttari LM, Kilpivaara O, Laasanen SL, Kallioniemi A, Nevanlinna H, Aaltonen L, Vessella RL, Auvinen A, Visakorpi T, Tammela TL, Schleutker J.
    • Cancer Epidemiol Biomarkers Prev. 2013 Mar;22(3):452-60. doi: 10.1158/1055-9965.EPI-12-1000-T. Epub 2013 Jan 4.
    • Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation.
    • Kuligina ESh, Sokolenko AP, Mitiushkina NV, Abysheva SN, Preobrazhenskaya EV, Gorodnova TV, Yanus GA, Togo AV, Cherdyntseva NV, Bekhtereva SA, Dixon JM, Larionov AA, Kuznetsov SG, Imyanitov EN.
    • Fam Cancer. 2013 Mar;12(1):129-32. doi: 10.1007/s10689-012-9575-x.
    • Letter
    • Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.
    • Bonache S, de la Hoya M, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O.
    • J Cancer Res Clin Oncol. 2013 Mar;139(3):529-32. doi: 10.1007/s00432-013-1385-5. Epub 2013 Feb 1.
    • Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.
    • Teo ZL, Park DJ, Provenzano E, Chatfield CA, Odefrey FA, Nguyen-Dumont T; kConFab, Dowty JG, Hopper JL, Winship I, Goldgar DE, Southey MC.
    • Breast Cancer Res. 2013 Feb 28;15(1):R17. doi: 10.1186/bcr3392.
    • Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles.
    • Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, Duran M, Osorio A, Moreno L, Gonzalez-Neira A, Rosa-Rosa JM, Sinilnikova O, Mazoyer S, Hopper J, Lazaro C, Southey M, Odefrey F, Manoukian S, Catucci I, Caldes T, Lynch HT, Hilbers FS, van Asperen CJ, Vasen HF, Goldgar D, Radice P, Devilee P, Benitez J.
    • PLoS One. 2013;8(2):e55681. doi: 10.1371/journal.pone.0055681. Epub 2013 Feb 8.
    • An inherited NBN mutation is associated with poor prognosis prostate cancer.
    • Cybulski C, Wokołorczyk D, Kluźniak W, Jakubowska A, Górski B, Gronwald J, Huzarski T, Kashyap A, Byrski T, Dębniak T, Gołąb A, Gliniewicz B, Sikorski A, Switała J, Borkowski T, Borkowski A, Antczak A, Wojnar L, Przybyła J, Sosnowski M, Małkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych J, Wilkosz J, Różański W, Kiś J, Bar K, Bryniarski P, Paradysz A, Jersak K, Niemirowicz J, Słupski P, Jarzemski P, Skrzypczyk M, Dobruch J, Domagała P, Narod SA, Lubiński J.
    • Br J Cancer. 2013 Feb 5;108(2):461-8. doi: 10.1038/bjc.2012.486. Epub 2012 Nov 13.
    • Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene with risk occurrence and the response to adjuvant therapy among Polish women with breast cancer.
    • Przybylowska-Sygut K, Stanczyk M, Kusinska R, Kordek R, Majsterek I.
    • Clin Breast Cancer. 2013 Feb;13(1):61-8. doi: 10.1016/j.clbc.2012.09.019. Epub 2012 Oct 26.
    • CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families.
    • Fachal L, Santamariña M, Blanco A, Carracedo A, Vega A.
    • Clin Transl Oncol. 2013 Feb;15(2):164-5. doi: 10.1007/s12094-012-0967-z. Epub 2012 Nov 13.
    • Genetics of Susceptibility to Sporadic Ovarian Cancer.
    • Katabathina VS, Prasad SR.
    • eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net. doi: 10.1002/9780470015902.a0023853. 2013 Feb.
    • A Commentary on Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.
    • Kiyotani K, Katagiri T.
    • J Hum Genet. 2013 Feb;58(2):58. doi: 10.1038/jhg.2012.142. Epub 2012 Dec 6.

    Related:

    Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.

    • Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.
    • Plourde KV, Labrie Y, Desjardins S, Belleau P, Ouellette G, Durocher F; INHERIT BRCAs.
    • J Hum Genet. 2013 Feb;58(2):59-66. doi: 10.1038/jhg.2012.127. Epub 2012 Nov 15.

    Related:

    Commentary:

    A Commentary on Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.

    • Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.
    • Litim N, Labrie Y, Desjardins S, Ouellette G, Plourde K, Belleau P; INHERIT BRCAs, Durocher F.
    • Mol Oncol. 2013 Feb;7(1):85-100. doi: 10.1016/j.molonc.2012.08.002. Epub 2012 Sep 11.
    • Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.
    • Hilbers FS, Meijers CM, Laros JF, van Galen M, Hoogerbrugge N, Vasen HF, Nederlof PM, Wijnen JT, van Asperen CJ, Devilee P.
    • PLoS One. 2013;8(1):e55734. doi: 10.1371/journal.pone.0055734. Epub 2013 Jan 31.
    • Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer.
    • Thompson ER, Rowley SM, Sawyer S, kConfab, Eccles DM, Trainer AH, Mitchell G, James PA, Campbell IG.
    • PLoS One. 2013;8(1):e54772. doi: 10.1371/journal.pone.0054772. Epub 2013 Jan 25.
    • Germline DNA copy number aberrations identified as potential prognostic factors for breast cancer recurrence.
    • Sapkota Y, Ghosh S, Lai R, Coe BP, Cass CE, Yasui Y, Mackey JR, Damaraju S.
    • PLoS One. 2013;8(1):e53850. doi: 10.1371/journal.pone.0053850. Epub 2013 Jan 16.

    Related:

    Press: Simple Blood Test Reveals DNA Marker That Predicts Breast Cancer Recurrence. (Medical News Today)

    • Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.
    • Tischkowitz M, Sabbaghian N, Hamel N, Pouchet C, Foulkes WD, Mes-Masson AM, Provencher DM, Tonin PN.
    • BMC Med Genet. 2013 Jan 9;14:5. doi: 10.1186/1471-2350-14-5.
    • Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.
    • Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, Turmanov N, Datsyuk I, Gantsev S, Christiansen H, Park-Simon TW, Hillemanns P, Khusnutdinova E, Dörk T.
    • Breast Cancer Res Treat. 2013 Jan;137(2):533-9. doi: 10.1007/s10549-012-2357-1. Epub 2012 Dec 6.
    • Meta-Analysis

    Related:

    Letter, Comment:

    The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population.

    Letter, Comment:

    The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia.

    • Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers.
    • Peng M, Bakker JL, Dicioccio RA, Gille JJ, Zhao H, Odunsi K, Sucheston L, Jaafar L, Mivechi NF, Waisfisz Q, Ko L.
    • Genes Cancer. 2013 Jan;4(1-2):15-25. doi: 10.1177/1947601913486344.
    • Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases.
    • Bakker JL, van Mil SE, Crossan G, Sabbaghian N, De Leeneer K, Poppe B, Adank M, Gille H, Verheul H, Meijers-Heijboer H, de Winter JP, Claes K, Tischkowitz M, Waisfisz Q.
    • Hum Mutat. 2013 Jan;34(1):70-3. doi: 10.1002/humu.22206. Epub 2012 Oct 11.
    • Common variants in the PALB2 gene confer susceptibility to breast cancer: a meta-analysis.
    • Zhang YX, Wang XM, Kang S, Li X, Geng J.
    • Asian Pac J Cancer Prev. 2013;14(12):7149-54.
    • Hereditary genes and SNPs associated with breast cancer.
    • Mahdi KM, Nassiri MR, Nasiri K.
    • Asian Pac J Cancer Prev. 2013;14(6):3403-9.
    • Identification of a novel BRCA2 and CHEK2 A-C-G-C haplotype in Turkish patients affected with breast cancer.
    • Haytural H, Yalcinkaya N, Akan G, Arikan S, Ozkok E, Cakmakoglu B, Yaylim I, Aydin M, Atalar F.
    • Asian Pac J Cancer Prev. 2013;14(5):3229-35.
    • Low level of consanguinity in moroccan families at high risk of breast cancer.
    • Elalaoui SC, Jaouad IC, Laarabi FZ, Elgueddari Bel K.
    • Asian Pac J Cancer Prev. 2013;14(2):723-6.
    • A multicenter matched case control study of breast cancer risk factors among women in Karachi, Pakistan.
    • Shamsi U, Khan S, Usman S, Soomro S, Azam I.
    • Asian Pac J Cancer Prev. 2013;14(1):183-8.
    • Hereditary breast cancer: the era of new susceptibility genes.
    • Apostolou P, Fostira F.
    • Biomed Res Int. 2013;2013:747318. doi: 10.1155/2013/747318. Epub 2013 Mar 21.
    • Hereditary breast cancer in the Han Chinese population.
    • Cao W, Wang X, Li JC.
    • J Epidemiol. 2013;23(2):75-84. Epub 2013 Jan 12.
    • Re-evaluating the FGFR4 (G388R) germline mutation in different cancers in Pakistani population.
    • Mansoor Q, Fayyaz S, Farooqi AA, Bhatti S, Ismail M.
    • J Exp Ther Oncol. 2013;10(3):215-7.
    • RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.
    • Le Calvez-Kelm F, Oliver J, Damiola F, Forey N, Robinot N, Durand G, Voegele C, Vallée MP, Byrnes G, Registry BC, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV, Lesueur F.
    • PLoS One. 2012;7(12):e52374. doi: 10.1371/journal.pone.0052374. Epub 2012 Dec 27.
    • CHEK2*1100delC Heterozygosity in Women With Breast Cancer Associated With Early Death, Breast Cancer-Specific Death, and Increased Risk of a Second Breast Cancer.
    • Weischer M, Nordestgaard BG, Pharoah P, Bolla MK, Nevanlinna H, Van't Veer LJ, Garcia-Closas M, Hopper JL, Hall P, Andrulis IL, Devilee P, Fasching PA, Anton-Culver H, Lambrechts D, Hooning M, Cox A, Giles GG, Burwinkel B, Lindblom A, Couch FJ, Mannermaa A, Grenaker Alnæs G, John EM, Dörk T, Flyger H, Dunning AM, Wang Q, Muranen TA, van Hien R, Figueroa J, Southey MC, Czene K, Knight JA, Tollenaar RA, Beckmann MW, Ziogas A, Christiaens MR, Collée JM, Reed MW, Severi G, Marme F, Margolin S, Olson JE, Kosma VM, Kristensen VN, Miron A, Bogdanova N, Shah M, Blomqvist C, Broeks A, Sherman M, Phillips KA, Li J, Liu J, Glendon G, Seynaeve C, Ekici AB, Leunen K, Kriege M, Cross SS, Baglietto L, Sohn C, Wang X, Kataja V, Børresen-Dale AL, Meyer A, Easton DF, Schmidt MK, Bojesen SE.
    • J Clin Oncol. 2012 Dec 10;30(35):4308-16. doi: 10.1200/JCO.2012.42.7336. Epub 2012 Oct 29.
    • Molecular pathways: understanding the role of rad52 in homologous recombination for therapeutic advancement.
    • Lok BH, Powell SN.
    • Clin Cancer Res. 2012 Dec 1;18(23):6400-6. doi: 10.1158/1078-0432.CCR-11-3150. Epub 2012 Oct 15.
    • CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.
    • Abud J, Prolla JC; Study Group on Hereditary Breast and Colorectal Cancer.
    • Arq Gastroenterol. 2012 Dec;49(4):273-8.
    • Germline mutations in RAD51C in Jewish high cancer risk families.
    • Kushnir A, Laitman Y, Shimon SP, Berger R, Friedman E.
    • Breast Cancer Res Treat. 2012 Dec;136(3):869-74. doi: 10.1007/s10549-012-2317-9. Epub 2012 Nov 2.
    • Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.
    • Vietri MT, Molinari AM, Laura De Paola M, Cantile F, Fasano M, Cioffi M.
    • Clin Chem Lab Med. 2012 Dec;50(12):2171-80.
    • Routine TP53 testing for breast cancer under age 30: ready for prime time?
    • McCuaig JM, Armel SR, Novokmet A, Ginsburg OM, Demsky R, Narod SA, Malkin D.
    • Fam Cancer. 2012 Dec;11(4):607-13. doi: 10.1007/s10689-012-9557-z.
    • Loss of function germline mutations in RAD51D in women with ovarian carcinoma.
    • Wickramanyake A, Bernier G, Pennil C, Casadei S, Agnew KJ, Stray SM, Mandell J, Garcia RL, Walsh T, King MC, Swisher EM.
    • Gynecol Oncol. 2012 Dec;127(3):552-5. doi: 10.1016/j.ygyno.2012.09.009. Epub 2012 Sep 14.
    • Assessing risk of breast cancer in an ethnically South-East Asia population (results of a multiple ethnic groups study).
    • Gao F, Machin D, Chow KY, Sim YF, Duffy SW, Matchar DB, Goh CH, Chia KS.
    • BMC Cancer. 2012 Nov 19;12:529. doi: 10.1186/1471-2407-12-529.
    • Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.
    • Pal T, Akbari MR, Sun P, Lee JH, Fulp J, Thompson Z, Coppola D, Nicosia S, Sellers TA, McLaughlin J, Risch HA, Rosen B, Shaw P, Schildkraut J, Narod SA.
    • Br J Cancer. 2012 Nov 6;107(10):1783-90. doi: 10.1038/bjc.2012.452. Epub 2012 Oct 9.
    • DNA mismatch repair deficiency in breast carcinoma: a pilot study of triple-negative and non-triple-negative tumors.
    • Wen YH, Brogi E, Zeng Z, Akram M, Catalano J, Paty PB, Norton L, Shia J.
    • Am J Surg Pathol. 2012 Nov;36(11):1700-8. doi: 10.1097/PAS.0b013e3182627787.
    • Prevalence of loss of expression of DNA mismatch repair proteins in primary epithelial ovarian tumors.
    • Lu FI, Gilks CB, Mulligan AM, Ryan P, Allo G, Sy K, Shaw PA, Pollett A, Clarke BA.
    • Int J Gynecol Pathol. 2012 Nov;31(6):524-31. doi: 10.1097/PGP.0b013e31824fe2aa.
    • Identifying breast cancer risk loci by global differential allele-specific expression (DASE) analysis in mammary epithelial transcriptome.
    • Gao C, Devarajan K, Zhou Y, Slater CM, Daly MB, Chen X.
    • BMC Genomics. 2012 Oct 30;13:570. doi: 10.1186/1471-2164-13-570.
    • Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.
    • Pern F, Bogdanova N, Schürmann P, Lin M, Ay A, Länger F, Hillemanns P, Christiansen H, Park-Simon TW, Dörk T.
    • PLoS One. 2012;7(10):e47993. doi: 10.1371/journal.pone.0047993. Epub 2012 Oct 24.
    • Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
    • Orr N, Lemnrau A, Cooke R, Fletcher O, Tomczyk K, Jones M, Johnson N, Lord CJ, Mitsopoulos C, Zvelebil M, McDade SS, Buck G, Blancher C; KConFab Consortium, Trainer AH, James PA, Bojesen SE, Bokmand S, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Giannini G, Hollestelle A, Ouweland AM, Novaković S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Easton DF, Pharoah PD, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Houlston RS, Garcia-Closas M, Ashworth A, Swerdlow AJ.
    • Nat Genet. 2012 Sep 23;44(11):1182-4. doi: 10.1038/ng.2417. Epub 2012 Sep 23.

    Related:

    News: Genetic link to male breast cancer. (Lancet Oncology)

    • Genetic determinants of breast cancer risk: a review of current literature and issues pertaining to clinical application.
    • Njiaju UO, Olopade OI.
    • Breast J. 2012 Sep;18(5):436-42. doi: 10.1111/j.1524-4741.2012.01274.x.
    • Review
    • Mutation screening of RAD51C in high-risk breast and ovarian cancer families.
    • Lu W, Wang X, Lin H, Lindor NM, Couch FJ.
    • Fam Cancer. 2012 Sep;11(3):381-5. doi: 10.1007/s10689-012-9523-9.
    • Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
    • Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch-Shimon S, Volorio S, Ficarazzi F, Bernard L, Radice P, Friedman E, Peterlongo P.
    • Fam Cancer. 2012 Sep;11(3):483-91. doi: 10.1007/s10689-012-9540-8.
    • Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles.
    • Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H; kConFab, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG.
    • PLoS Genet. 2012 Sep;8(9):e1002894. doi: 10.1371/journal.pgen.1002894. Epub 2012 Sep 27.

    Related:

    Comment:

    Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power.

    • Breast cancer in the Arctic--changes over the past decades.
    • Fredslund SO, Bonefeld-Jørgensen EC.
    • Int J Circumpolar Health. 2012 Aug 16;71:19155. doi: 10.3402/ijch.v71i0.19155.

    Related:

    Review:

    Breast cancer in the Arctic--changes over the past decades.

    • Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres.
    • Yanowsky K, Barroso A, Osorio A, Urioste M, Benitez J, Martinez-Delgado B.
    • Breast Cancer Res Treat. 2012 Aug;134(3):1337-43. doi: 10.1007/s10549-012-2141-2. Epub 2012 Jul 3.
    • Familial breast cancer.
    • Lalloo F, Evans DG.
    • Clin Genet. 2012 Aug;82(2):105-14. doi: 10.1111/j.1399-0004.2012.01859.x. Epub 2012 Apr 13.
    • Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
    • Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.
    • Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed

    • Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.
    • Osorio A, Endt D, Fernández F, Eirich K, de la Hoya M, Schmutzler R, Caldés T, Meindl A, Schindler D, Benitez J.
    • Hum Mol Genet. 2012 Jul 1;21(13):2889-98. doi: 10.1093/hmg/dds115. Epub 2012 Mar 26.
    • Analysis of KLLN as a high-penetrance breast cancer predisposition gene.
    • Thompson ER, Gorringe KL, Choong DY, Eccles DM; kConFab, Mitchell G, Campbell IG.
    • Breast Cancer Res Treat. 2012 Jul;134(2):543-7. doi: 10.1007/s10549-012-2088-3. Epub 2012 May 13.
    • High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?
    • Smith MJ, Gifford FL, Lalloo F, Newman WG, Evans DG.
    • Breast Cancer Res Treat. 2012 Jul;134(2):895-7. doi: 10.1007/s10549-012-2130-5. Epub 2012 Jul 3.
    • Letter
    • Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region.
    • Prokofyeva D, Bogdanova N, Bermisheva M, Zinnatullina G, Hillemanns P, Khusnutdinova E, Dörk T.
    • Clin Genet. 2012 Jul;82(1):100-1. doi: 10.1111/j.1399-0004.2011.01824.x. Epub 2012 Feb 6.
    • Letter
    • A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer.
    • Pelttari LM, Kiiski J, Nurminen R, Kallioniemi A, Schleutker J, Gylfe A, Aaltonen LA, Leminen A, Heikkilä P, Blomqvist C, Bützow R, Aittomäki K, Nevanlinna H.
    • J Med Genet. 2012 Jul;49(7):429-32. doi: 10.1136/jmedgenet-2012-100852. Epub 2012 May 31.
    • Genetic testing by cancer site: breast.
    • Shannon KM, Chittenden A.
    • Cancer J. 2012 Jul-Aug;18(4):310-9. doi: 10.1097/PPO.0b013e318260946f.
    • Review
    • Genetic testing by cancer site: ovary.
    • Weissman SM, Weiss SM, Newlin AC.
    • Cancer J. 2012 Jul-Aug;18(4):320-7. doi: 10.1097/PPO.0b013e31826246c2.
    • Review
    • The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.
    • Johnson JK, Waddell N; kConFab Investigators, Chenevix-Trench G.
    • BMC Cancer. 2012 Jun 15;12:246. doi: 10.1186/1471-2407-12-246.
    • Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
    • Roeb W, Higgins J, King MC.
    • Hum Mol Genet. 2012 Jun 15;21(12):2738-44. doi: 10.1093/hmg/dds101. Epub 2012 Mar 13.
    • High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.
    • Sokolenko AP, Iyevleva AG, Preobrazhenskaya EV, Mitiushkina NV, Abysheva SN, Suspitsin EN, Kuligina ESh, Gorodnova TV, Pfeifer W, Togo AV, Turkevich EA, Ivantsov AO, Voskresenskiy DV, Dolmatov GD, Bit-Sava EM, Matsko DE, Semiglazov VF, Fichtner I, Larionov AA, Kuznetsov SG, Antoniou AC, Imyanitov EN.
    • Int J Cancer. 2012 Jun 15;130(12):2867-73. doi: 10.1002/ijc.26342. Epub 2011 Oct 20.
    • Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition.
    • Rouleau E, Jesson B, Briaux A, Nogues C, Chabaud V, Demange L, Sokolowska J, Coulet F, Barouk-Simonet E, Bignon YJ, Bonnet F, Bourdon V, Bronner M, Caputo S, Castera L, Delnatte C, Delvincourt C, Fournier J, Hardouin A, Muller D, Peyrat JP, Toulas C, Uhrhammer N, Vidal V, Stoppa-Lyonnet D, Bieche I, Lidereau R.
    • Breast Cancer Res Treat. 2012 Jun;133(3):1179-90. doi: 10.1007/s10549-012-2009-5. Epub 2012 Apr 5.
    • Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women.
    • Mateju M, Kleiblova P, Kleibl Z, Janatova M, Soukupova J, Ticha I, Novotny J, Pohlreich P.
    • Breast Cancer Res Treat. 2012 Jun;133(2):809-11. doi: 10.1007/s10549-012-2049-x. Epub 2012 Apr 11.
    • Letter

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: article request

    • Prevalence of TP53 germ line mutations in young Pakistani breast cancer patients.
    • Rashid MU, Gull S, Asghar K, Muhammad N, Amin A, Hamann U.
    • Fam Cancer. 2012 Jun;11(2):307-11. doi: 10.1007/s10689-012-9509-7.
    • [Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region].
    • Chasovnikova OB, Mitrofanov DV, Anisimenko MS, Voevoda MI, Kovalenko SP, Liakhovich VV.
    • Genetika. 2012 Jun;48(6):768-72.
    • [Article in Russian]
    • Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network.
    • Pylkäs K, Vuorela M, Otsukka M, Kallioniemi A, Jukkola-Vuorinen A, Winqvist R.
    • PLoS Genet. [2012 Jun;]8(6):e1002734. doi: 10.1371/journal.pgen.1002734. Epub 2012 Jun 21.
    • Environment and genetics: making sense of the noise.
    • Petherick A.
    • Nature. 2012 May 30;485(7400):S64-5. doi: 10.1038/485S64a.
    • News

    Related:

    Letter:

    Tumours: Less lactation may explain cancer rise.

    • RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer.
    • He M, Di GH, Cao AY, Hu Z, Jin W, Shen ZZ, Shao ZM.
    • Breast Cancer Res Treat. 2012 May;133(1):111-6. doi: 10.1007/s10549-011-1700-2. Epub 2011 Aug 3.
    • Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
    • De Leeneer K, Van Bockstal M, De Brouwer S, Swietek N, Schietecatte P, Sabbaghian N, Van den Ende J, Willocx S, Storm K, Blaumeiser B, Van Asperen CJ, Wijnen JT, Leunen K, Legius E, Michils G, Matthijs G, Blok MJ, Gomez-Garcia E, De Paepe A, Tischkowitz M, Poppe B, Claes K.
    • Breast Cancer Res Treat. 2012 May;133(1):393-8. doi: 10.1007/s10549-012-1998-4. Epub 2012 Feb 28.
    • Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.
    • Harinck F, Kluijt I, van Mil SE, Waisfisz Q, van Os TA, Aalfs CM, Wagner A, Olderode-Berends M, Sijmons RH, Kuipers EJ, Poley JW, Fockens P, Bruno MJ.
    • Eur J Hum Genet. 2012 May;20(5):577-9. doi: 10.1038/ejhg.2011.226. Epub 2011 Dec 14.
    • Germline RAD51C mutations confer susceptibility to ovarian cancer.
    • Loveday C, Turnbull C, Ruark E, Xicola RM, Ramsay E, Hughes D, Warren-Perry M, Snape K; Breast Cancer Susceptibility Collaboration (BCSC) (UK), Eccles D, Evans DG, Gore M, Renwick A, Seal S, Antoniou AC, Rahman N.
    • Nat Genet. 2012 Apr 26;44(5):475-6. doi: 10.1038/ng.2224.
    • Letter

    Related:

    Letter:

    Germline RAD51C mutations confer susceptibility to ovarian cancer.

    • Breast cancer genome-wide association studies: there is strength in numbers.
    • Fanale D, Amodeo V, Corsini LR, Rizzo S, Bazan V, Russo A.
    • Oncogene. 2012 Apr 26;31(17):2121-8. doi: 10.1038/onc.2011.408. Epub 2011 Sep 26.
    • Review
    • Frequency of the CHEK2 1100delC mutation among women with early-onset and bilateral breast cancer.
    • Ding D, Zhang Y, He X, Meng W, Ma W, Zheng W.
    • Breast Cancer Res. 2012 Apr 20;14(2):401.
    • Letter
    • Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.
    • Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, Ariffin H, Thong MK, Chin KF, Mohd Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Apr 16;14(2):R66.
    • Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
    • Osher DJ, De Leeneer K, Michils G, Hamel N, Tomiak E, Poppe B, Leunen K, Legius E, Shuen A, Smith E, Arseneau J, Tonin P, Matthijs G, Claes K, Tischkowitz MD, Foulkes WD.
    • Br J Cancer. 2012 Apr 10;106(8):1460-3. doi: 10.1038/bjc.2012.87. Epub 2012 Mar 13.
    • Rare mutations in XRCC2 increase the risk of breast cancer.
    • Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A; Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC.
    • Am J Hum Genet. 2012 Apr 6;90(4):734-9. doi: 10.1016/j.ajhg.2012.02.027. Epub 2012 Mar 29.

    Related:

    Press: A new breast cancer susceptibility gene/ (EurekAlert!)

    • Translational advances regarding hereditary breast cancer syndromes.
    • Gage M, Wattendorf D, Henry LR.
    • J Surg Oncol. 2012 Apr 1;105(5):444-51. doi: 10.1002/jso.21856.
    • Review
    • Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer.
    • Domagala P, Wokolorczyk D, Cybulski C, Huzarski T, Lubinski J, Domagala W.
    • Breast Cancer Res Treat. 2012 Apr;132(3):937-45. Epub 2011 Jun 24.
    • Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.
    • Nagel JH, Peeters JK, Smid M, Sieuwerts AM, Wasielewski M, de Weerd V, Trapman-Jansen AM, van den Ouweland A, Brüggenwirth H, van Ijcken WF, Klijn JG, van der Spek PJ, Foekens JA, Martens JW, Schutte M, Meijers-Heijboer H.
    • Breast Cancer Res Treat. 2012 Apr;132(2):439-48. doi: 10.1007/s10549-011-1588-x. Epub 2011 May 26.
    • [Present status and tasks for genetic testing and risk-reducing surgery in patients with hereditary breast and ovarian cancer].
    • Arai M, Taki K, Iwase H, Takizawa K, Nishimura S, Iwase T.
    • Gan To Kagaku Ryoho. 2012 Apr;39(4):525-31.
    • [Article in Japanese]
    • Rare germline mutations in PALB2 and breast cancer risk: A population-based study.
    • Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallée MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L; The WECARE Study Collaborative Group, Bernstein JL, Begg CB.
    • Hum Mutat. 2012 Apr;33(4):674-680. doi: 10.1002/humu.22022. Epub 2012 Feb 15.
    • Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC).
    • Bolton KL, Ganda C, Berchuck A, Pharaoh PD, Gayther SA.
    • J Intern Med. 2012 Apr;271(4):366-78. doi: 10.1111/j.1365-2796.2011.02509.x.
    • The R337H mutation in TP53 and breast cancer in Brazil.
    • Gomes MC, Kotsopoulos J, de Almeida GL, Costa MM, Vieira R, Filho Fde A, Pitombo MB, F Leal PR, Royer R, Zhang P, Narod SA.
    • Hered Cancer Clin Pract. 2012 Mar 28;10(1):3. doi: 10.1186/1897-4287-10-3.
    • Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.
    • Fernández-Rodríguez J, Quiles F, Blanco I, Teulé A, Feliubadaló L, Valle JD, Salinas M, Izquierdo A, Darder E, Schindler D, Capellá G, Brunet J, Lázaro C, Pujana MA.
    • BMC Cancer. 2012 Mar 8;12:84. doi: 10.1186/1471-2407-12-84.
    • Novel germline PALB2 truncating mutations in African American breast cancer patients.
    • Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI.
    • Cancer. 2012 Mar 1;118(5):1362-70. doi: 10.1002/cncr.26388. Epub 2011 Aug 26.
    • Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.
    • Ghiorzo P, Pensotti V, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bonelli L, Borgonovo G, Bruno W, Gozza A, Gargiulo S, Mastracci L, Nasti S, Palmieri G, Papadia F, Pastorino L, Russo A, Savarino V, Varesco L, Bernard L, Bianchi Scarrà G; Genoa Pancreatic Cancer Study Group.
    • Fam Cancer. 2012 Mar;11(1):41-7. doi: 10.1007/s10689-011-9483-5.
    • Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.
    • Catucci I, Colombo M, Verderio P, Bernard L, Ficarazzi F, Mariette F, Barile M, Peissel B, Cattaneo E, Manoukian S, Radice P, Peterlongo P.
    • PLoS One. 2012;7(2):e31038. doi: 10.1371/journal.pone.0031038. Epub 2012 Feb 23.
    • Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.
    • Solyom S, Aressy B, Pylkäs K, Patterson-Fortin J, Hartikainen JM, Kallioniemi A, Kauppila S, Nikkilä J, Kosma VM, Mannermaa A, Greenberg RA, Winqvist R.
    • Sci Transl Med. 2012 Feb 22;4(122):122ra23. doi: 10.1126/scitranslmed.3003223.

    Related:

    Press: Researchers Discover New Member Of The Breast-Cancer Gene Network. (Medical News Today)

    Press: New member of the breast-cancer gene network found by Penn-led team. (EurekAlert!)

    Press: New breast cancer gene identified. (PHG Foundation)

    • Gene-gene interactions in breast cancer susceptibility.
    • Turnbull C, Seal S, Renwick A, Warren-Perry M, Hughes D, Elliott A, Pernet D, Peock S, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK), EMBRACE, Ahmed M, Eccles D, Evans DG, Donnelly P, Easton DF, Stratton MR, Rahman N.
    • Hum Mol Genet. 2012 Feb 15;21(4):958-62. doi: 10.1093/hmg/ddr525. Epub 2011 Nov 9.
    • Germline DNA copy number variation in familial and early-onset breast cancer.
    • Krepischi AC, Achatz MI, Santos EM, Costa SS, Lisboa BC, Brentani H, Santos TM, Gonçalves A, Nóbrega AF, Pearson PL, Vianna-Morgante AM, Carraro DM, Brentani RR, Rosenberg C.
    • Breast Cancer Res. 2012 Feb 7;14(1):R24.
    • 21-Gene recurrence scores: Racial differences in testing, scores, treatment, and outcome.
    • Lund MJ, Mosunjac M, Davis KM, Gabram-Mendola S, Rizzo M, Bumpers HL, Hearn S, Zelnak A, Styblo T, O'Regan RM.
    • Cancer. 2012 Feb 1;118(3):788-96. doi: 10.1002/cncr.26180. Epub 2011 Jun 30.
    • Ovarian endometrioid adenocarcinoma: incidence and clinical significance of the morphologic and immunohistochemical markers of mismatch repair protein defects and tumor microsatellite instability.
    • Aysal A, Karnezis A, Medhi I, Grenert JP, Zaloudek CJ, Rabban JT.
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