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    Related:

    Comments from NSGC Cancer SIG Discussion Forum

    Subject: cBROCA Technology for Detecting Cancer Gene Splicing Variants Published in PNAS

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    • Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG).
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    Related:

    Commentary:

    Germline genetic testing for breast cancer: which patients? What genes?

    Podcast: Should all breast cancer patients get germline genetic testing? (Genetics in Medicine. Genepod. 2020 Mar.)

    Press: Universal Genetic Testing in Breast Cancer May Result in More Harm Than Good, Experts Worry. (GenomeWeb)

    Press: ACMG Suggests Docs Evaluate All Breast Cancer Patients for Genetic Risk Test Suitability. (GenomeWeb)

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    Related:

    Press: Breast Cancer Recurrence Risk Predicted by Immune-Related Germline Variants. (GenomeWeb)

    • Rationale for evaluating breast cancers of Lynch syndrome patients for mismatch repair gene expression.
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    Related:

    Commentary:

    Are there clinical factors that can predict prolonged survival of patients receiving olaparib as maintenance therapy for BRCA-mutated ovarian cancer?

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    Related:

    Editorial:

    Polygenic risk scores for breast cancer risk prediction: Lessons learned and future opportunities.

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    • Review
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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:

    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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    • Front Genet. 2019 Jun 4;10:527. doi: 10.3389/fgene.2019.00527. eCollection 2019.
    • Novel germline STK11 variants and breast cancer phenotype identified in an Indian cohort of Peutz-Jeghers syndrome.
    • Lipsa A, Kowtal P, Sarin R.
    • Hum Mol Genet. 2019 Jun 1;28(11):1885-1893. doi: 10.1093/hmg/ddz027.
    • [Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer.]
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    • Klin Onkol. 2019 Summer;32(Supplementum2):6-13. doi: 10.14735/amko2019S6.
    • [Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.]
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    • Klin Onkol. 2019 Summer;32(Supplementum2):14-23. doi: 10.14735/amko2019S14.
    • [Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.]
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    • Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
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    • Case report
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    • Case report
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    • The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.
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    • BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.
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    • Cancers (Basel). 2019 May 28;11(6). pii: E740. doi: 10.3390/cancers11060740.
    • 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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    • Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic review and suggestions for further research.
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    • Commentary
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    Related:

    Editorial:

    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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    • Functional characterization of novel pathogenic germline TP53 variants in Swedish families.
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    • BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature.
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    • Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era.
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    Related:

    Letter, Commentary:

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

    • Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
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    • Maintenance Rucaparib Controls Some Pancreatic Cancers.
    • [No authors listed]
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    • Germline BRCA1 Deletion as Driver Mutation for Metastatic Urachal Adenocarcinoma in Patient Who Achieved Complete Response to Rucaparib.
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    • PARP Inhibitors for Maintenance Therapy in Pancreatic Cancer?
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    • Medscape. Medscape Oncology. 2019 Apr 2.

    Related:

    Conference abstract: CT234 - A Phase II, single arm study of maintenance rucaparib in patients with platinum-sensitive advanced pancreatic cancer and a pathogenic germline or somatic mutation in BRCA1, BRCA2 or PALB2 (AACR Annual Meeting 2019)

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    • Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort.
    • Fulk K, LaDuca H, Black MH, Qian D, Tian Y, Yussuf A, Espenschied C, Jasperson K.
    • Fam Cancer. 2019 Apr;18(2):197-201. doi: 10.1007/s10689-018-00114-4.
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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.
    • Frayling IM, Mautner VF, van Minkelen R, Kallionpaa RA, Aktaş S, Baralle D, Ben-Shachar S, Callaway A, Cox H, Eccles DM, Ferkal S, LaDuca H, Lázaro C, Rogers MT, Stuenkel AJ, Summerour P, Varan A, Yap YS, Zehou O, Peltonen J, Evans DG, Wolkenstein P, Upadhyaya M.
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    • Risk Haplotypes Uniquely Associated with Radioiodine-Refractory Thyroid Cancer Patients of High African Ancestry.
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    • Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.
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    • Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature.
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    • 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.
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    • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
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    • BRCA2 in Ovarian Development and Function.
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    • Letter, Case report, Comment

    Related:

    Original research:

    Essential Role of BRCA2 in Ovarian Development and Function.

    Letter, Comment:

    BRCA2 in Ovarian Development and Function.

    Letter, Reply:

    BRCA2 in Ovarian Development and Function. Reply.

    • 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
    • Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
    • Gelli E, Colombo M, Pinto AM, De Vecchi G, Foglia C, Amitrano S, Morbidoni V, Imperatore V, Manoukian S, Baldassarri M, Lo Rizzo C, Catania L, Frullanti E, Tagliafico E, Cortesi L, Spaggiari F, Mencarelli MA, Trevisson E, Radice P, Renieri A, Ariani F.
    • Cancers (Basel). 2019 Mar 1;11(3). pii: E295. doi: 10.3390/cancers11030295.
    • Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.
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    • E-cadherin-deficient cells have synthetic lethal vulnerabilities in plasma membrane organisation, dynamics and function.
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    • Gynecol Oncol. 2019 Mar;152(3):612-617. doi: 10.1016/j.ygyno.2018.12.021. Epub 2019 Jan 3.
    • Klotho gene polymorphisms are associated with healthy aging and longevity: Evidence from a meta-analysis.
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    • The protective role of rs56103835 against breast cancer onset in the Iranian population.
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    • The Tumor Suppressor PALB2: Inside Out.
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    • 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.
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    • Letter, Comment

    Related:

    Original Research:

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

    • Genetic variation and radiation quality impact cancer promoting cellular phenotypes in response to HZE exposure.
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    • Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011.
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    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.

    • XRCC2 (X-ray repair cross complementing 2).
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    • 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.

    • Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
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    • 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

    • A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.
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    • New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer.
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    • Review
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    • Clinical Activity of Olaparib in Urothelial Bladder Cancer With DNA Damage Response Gene Mutations.
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    • Associations between RAD51D germline mutations and breast cancer risk and survival in BRCA1/2-negative breast cancers.
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    • Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.
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    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)

    • 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)

    • 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
    • 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.
    • [The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].
    • Moretta J, Berthet P, Bonadona V, Caron O, Cohen-Haguenauer O, Colas C, Corsini C, Cusin V, De Pauw A, Delnatte C, Dussart S, Jamain C, Longy M, Luporsi E, Maugard C, Nguyen TD, Pujol P, Vaur D, Andrieu N, Lasset C, Noguès C; Groupe Génétique et Cancer d’Unicancer.
    • Bull Cancer. 2018 Oct;105(10):907-917. doi: 10.1016/j.bulcan.2018.08.003. Epub 2018 Sep 27.
    • Practice Guideline, [Article in French]
    • 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
    • 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)

    • 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’.

    • Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
    • Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching PA, Thiel CT, Hartmann A, Beckmann MW, Lux MP, Reis A.
    • BMC Cancer. 2018 Sep 26;18(1):926. doi: 10.1186/s12885-018-4821-8.
    • Essential Role of BRCA2 in Ovarian Development and Function.
    • Weinberg-Shukron A, Rachmiel M, Renbaum P, Gulsuner S, Walsh T, Lobel O, Dreifuss A, Ben-Moshe A, Zeligson S, Segel R, Shore T, Kalifa R, Goldberg M, King MC, Gerlitz O, Levy-Lahad E, Zangen D.
    • N Engl J Med. 2018 Sep 13;379(11):1042-1049. doi: 10.1056/NEJMoa1800024.
    • Case report

    Related:

    Letter, Comment, Case report:

    BRCA2 in Ovarian Development and Function.

    Letter, Comment:

    BRCA2 in Ovarian Development and Function.

    Letter, Reply:

    BRCA2 in Ovarian Development and Function. Reply.

    • 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.
    • Meta-Analysis of BRCA1 Polymorphisms and Breast Cancer Susceptibility.
    • Soudeh GF, Ali D, Sepideh F.
    • Klin Onkol. 2018 Fall;31(5):330-338. doi: 10.14735/amko2018330.
    • Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study.
    • Wielsøe M, Eiberg H, Ghisari M, Kern P, Lind O, Bonefeld-Jørgensen EC.
    • Basic Clin Pharmacol Toxicol. 2018 Sep;123(3):335-346. doi: 10.1111/bcpt.13002. Epub 2018 Apr 23.
    • A Clinical Decision Support Tool to Predict Cancer Risk for Commonly Tested Cancer-Related Germline Mutations.
    • Braun D, Yang J, Griffin M, Parmigiani G, Hughes KS.
    • J Genet Couns. 2018 Sep;27(5):1187-1199. doi: 10.1007/s10897-018-0238-4. Epub 2018 Mar 2.
    • 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
    • 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.

    • 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.
    • Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
    • Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB; GEMINI Consortium, Conrad DF, Laan M.
    • Am J Hum Genet. 2018 Aug 2;103(2):200-212. doi: 10.1016/j.ajhg.2018.07.005.
    • Case report
    • A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.
    • Evans DGR, van Veen EM, Byers HJ, Wallace AJ, Ellingford JM, Beaman G, Santoyo-Lopez J, Aitman TJ, Eccles DM, Lalloo FI, Smith MJ, Newman WG.
    • Am J Hum Genet. 2018 Aug 2;103(2):213-220. doi: 10.1016/j.ajhg.2018.07.002.
    • 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.
    • Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
    • Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):855-862. doi: 10.1093/jnci/djy106.

    Related:

    Research news:

    New triple-negative breast cancer risk genes identified.

    Research news: Triple-negative: Genes associated with risk for aggressive breast cancer. (Science Daily)

    Research news: Triple-Negative Breast Cancer Risk Linked to Germline Variants in Several Cancer Genes. (Precision Oncology News)

    Research news: Study identifies genes associated with risk of triple-negative breast cancer. (FORCE. XRAYS.)

    • 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
    • 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
    • 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)

    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
    • Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer , Casey , Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.
    • Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.
    • 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.

    • Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
    • Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, Sur S, Ghosh M, Agarwal A, Sarin R, Ahmed R, Almel S, Chakraborti B, Raina V, DadiReddy PK, Smruti BK, Rajappa S, Dodagoudar C, Aggarwal S, Singhal M, Joshi A, Kumar R, Kumar A, Mishra DK, Arora N, Karaba A, Sankaran S, Katragadda S, Ghosh A, Veeramachaneni V, Hariharan R, Mannan AU.
    • Breast Cancer Res Treat. 2018 Jul;170(1):189-196. doi: 10.1007/s10549-018-4726-x. Epub 2018 Feb 22.
    • Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
    • Eoh KJ, Kim JE, Park HS, Lee ST, Park JS, Han JW, Lee JY, Kim S, Kim SW, Kim JH, Kim YT, Nam EJ.
    • Cancer Res Treat. 2018 Jul;50(3):917-925. doi: 10.4143/crt.2017.220. Epub 2017 Sep 27.
    • 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.
    • 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?

    • Vitamin D Receptor Gene Polymorphism: Association with Susceptibility to Early-Onset Breast Cancer in Iranian, BRCA1/2-Mutation Carrier and non-carrier Patients.
    • Shahabi A, Alipour M, Safiri H, Tavakol P, Alizadeh M, Milad Hashemi S, Shahabi M, Halimi M.
    • Pathol Oncol Res. 2018 Jul;24(3):601-607. doi: 10.1007/s12253-017-0281-8. Epub 2017 Aug 6.
    • A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.
    • Li Y, Devlin JJ.
    • Value Health. 2018 Jul;21(7):893-894. doi: 10.1016/j.jval.2018.02.010. Epub 2018 Apr 5.
    • Letter

    Related:

    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    Original Research:

    A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

    • 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.

    • 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.)

    • High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population.
    • Maksimenko J, Irmejs A, Trofimovičs G, Bērziņa D, Skuja E, Purkalne G, Miklaševičs E, Gardovskis J.
    • Hered Cancer Clin Pract. 2018 Jun 5;16:12. doi: 10.1186/s13053-018-0094-0. eCollection 2018.
    • Assessment of DNA repair susceptibility genes identified by whole exome sequencing in head and neck cancer.
    • Das R, Kundu S, Laskar S, Choudhury Y, Ghosh SK.
    • DNA Repair (Amst). 2018 Jun - Jul;66-67:50-63. doi: 10.1016/j.dnarep.2018.04.005. Epub 2018 Apr 26.
    • 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.
    • Avgerinou C, Fostira F, Economopoulou P, Psyrri A.
    • Clin Genet. 2018 Jun;93(6):1250-1251. doi: 10.1111/cge.13138. Epub 2018 Feb 11.
    • Letter, Case report
    • Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
    • 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.
    • Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.
    • Sirisena ND, Adeyemo A, Kuruppu AI, Samaranayake N, Dissanayake VHW.
    • J Breast Cancer. 2018 Jun;21(2):165-172. doi: 10.4048/jbc.2018.21.2.165. Epub 2018 Jun 20.
    • Extent of breast cancer type 1 promoter methylation correlates with clinicopathological features in breast cancers.
    • Sun MY, Chang XZ, Xu GY, Dong Y, Zhou ZJ, Liu T, Wang CQ, Li YS.
    • J Cancer Res Ther. 2018 Jun;14([9] Supplement):S354-S361. doi: 10.4103/0973-1482.235354.
    • Complete Remission Following Pembrolizumab in a Woman with Mismatch Repair-Deficient Endometrial Cancer and a Germline BRCA1 Mutation.
    • Dizon DS, Dias-Santagata D, Bregar A, Sullivan L, Filipi J, DiTavi E, Miller L, Ellisen L, Birrer M, DelCarmen M.
    • Oncologist. 2018 Jun;23(6):650-653. doi: 10.1634/theoncologist.2017-0526. Epub 2018 Feb 22.
    • Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.
    • Reiner AS, Sisti J, John EM, Lynch CF, Brooks JD, Mellemkjær L, Boice JD, Knight JA, Concannon P, Capanu M, Tischkowitz M, Robson M, Liang X, Woods M, Conti DV, Duggan D, Shore R, Stram DO, Thomas DC, Malone KE, Bernstein L; WECARE Study Collaborative Group, Bernstein JL.
    • J Clin Oncol. 2018 May 20;36(15):1513-1520. doi: 10.1200/JCO.2017.77.3424. Epub 2018 Apr 5.
    • Study on the Mechanism of Cell Cycle Checkpoint Kinase 2 (CHEK2) Gene Dysfunction in Chemotherapeutic Drug Resistance of Triple Negative Breast Cancer Cells.
    • Luo L, Gao W, Wang J, Wang D, Peng X, Jia Z, Jiang Y, Li G, Tang D, Wang Y.
    • Med Sci Monit. 2018 May 15;24:3176-3183. doi: 10.12659/MSM.907256.
    • Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
    • Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H3, King MC.
    • Proc Natl Acad Sci U S A. 2018 May 15;115(20):5241-5246. doi: 10.1073/pnas.1801796115. Epub 2018 Apr 30.
    • Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.
    • Shah ND, Shah PS, Panchal YY, Katudia KH, Khatri NB, Ray HSP, Bhatiya UR, Shah SC, Shah BS, Rao MV.
    • Appl Clin Genet. 2018 May 9;11:59-67. doi: 10.2147/TACG.S155955. eCollection 2018.
    • MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer.
    • Rose AM, Krishan A, Chakarova CF, Moya L, Chambers SK, Hollands M, Illingworth JC, Williams SMG, McCabe HE, Shah AZ, Palmer CNA, Chakravarti A, Berg JN, Batra J, Bhattacharya SS.
    • Ann Oncol. 2018 May 1;29(5):1292-1303. doi: 10.1093/annonc/mdy082.
    • Clinical criteria revision for hereditary lobular breast cancer associated with E-cadherin germline mutations.
    • Corso G, De Scalzi A, Feroce I, Veronesi P, Bonanni B, Galimberti V.
    • Per Med. 2018 May 1;15(3):153-155. doi: 10.2217/pme-2017-0083. Epub 2018 May 10.
    • Editorial, Review
    • Identification and analysis of CHEK2 germline mutations in Chinese BRCA1/2-negative breast cancer patients.
    • Fan Z, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • 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.
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    • The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
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    Press: Normal-tissue BRCA1 Methylation May Occur Before Birth, Raise Ovarian Cancer Risk. (Medscape/Reuters Health)

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    • A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
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    • Fam Cancer. 2018 Jan;17(1):23-30. doi: 10.1007/s10689-017-0004-z.
    • Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
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    • Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.
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    • The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
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    • J Med Genet. 2018 Jan;55(1):15-20. doi: 10.1136/jmedgenet-2017-104560. Epub 2017 May 10.
    • Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.
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    • Clujul Med. 2018;91(2):157-165. doi: 10.15386/cjmed-894. Epub 2018 Apr 25.
    • BRCA2-Associated Prostate Cancer in a Patient With Spinal and Bulbar Muscular Atrophy.
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    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00115. Epub 2018 Jun 29.
    • Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
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    • Oncotarget. 2017 Nov 28;8(68):112258-112267. doi: 10.18632/oncotarget.22733. eCollection 2017 Dec 22.
    • 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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    • The Multifaceted Experience of Multigene Panel Testing for Breast Cancer.
    • Daly M, Azvolinsky A.
    • OncoTherapy Network. 2017 Dec 1.

    Related:

    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

    Editorial:

    Multigene Panel Testing and Breast Cancer Risk: Is It Time to Scale Down?

    • Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer.
    • Zhang K, Zhou J, Zhu X, Luo M, Xu C, Yu J, Deng M, Zheng S, Chen Y.
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    • Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.
    • Li J, Li H, Makunin I; kConFab Investigators, Thompson BA, Tao K, Young EL, Lopez J, Camp NJ, Tavtigian SV, John EM, Andrulis IL, Khanna KK, Goldgar D, Chenevix-Trench G.
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    • Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
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    • The use of panel testing in familial breast and ovarian cancer.
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    • 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.
    • Schoolmeester JK, Moyer AM, Goodenberger ML, Keeney GL, Carter JM, Bakkum-Gamez JN.
    • Hum Pathol. 2017 Dec;70:14-26. doi: 10.1016/j.humpath.2017.06.018. Epub 2017 Jul 12
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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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    • The first case report of a large deletion of the BRCA1 gene in Croatia: A case report.
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    • Medicine (Baltimore). 2017 Dec;96(48):e8667. doi: 10.1097/MD.0000000000008667.
    • Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease.
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    • 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.
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    • Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report.
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    • Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons.
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    • Plast Reconstr Surg Glob Open. 2017 Nov 20;5(11):e1564. doi: 10.1097/GOX.0000000000001564. eCollection 2017 Nov.
    • Clinical and Genetic Risk Prediction of Subsequent CNS Tumors in Survivors of Childhood Cancer: A Report From the COG ALTE03N1 Study.
    • Wang X, Sun CL, Hageman L, Smith K, Singh P, Desai S, Hawkins DS, Hudson MM, Mascarenhas L, Neglia JP, Oeffinger KC, Ritchey AK, Robison LL, Villaluna D, Landier W, Bhatia S.
    • J Clin Oncol. 2017 Nov 10;35(32):3688-3696. doi: 10.1200/JCO.2017.74.7444. Epub 2017 Oct 4.
    • A functional BRCA1 coding sequence genetic variant contributes to prognosis of triple-negative breast cancer, especially after radiotherapy.
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    • Breast Cancer Res Treat. 2017 Nov;166(1):109-116. doi: 10.1007/s10549-017-4395-1. Epub 2017 Jul 25.
    • FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.
    • Kiiski JI, Tervasmäki A, Pelttari LM, Khan S, Mantere T, Pylkäs K, Mannermaa A, Tengström M, Kvist A, Borg Å, Kosma VM, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Winqvist R, Nevanlinna H.
    • Breast Cancer Res Treat. 2017 Nov;166(1):217-226. doi: 10.1007/s10549-017-4388-0. Epub 2017 Jul 12.
    • Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient.
    • Njoroge SW, Burgess KR, Cobleigh MA, Alnajar HH, Gattuso P, Usha L.
    • Breast Cancer Res Treat. 2017 Nov;166(1):315-319. doi: 10.1007/s10549-017-4393-3. Epub 2017 Jul 12.
    • Case report
    • Mutation status of RAD51C, PALB2, and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.
    • Sato K, Koyasu M, Nomura S, Sato Y, Kita M, Ashihara Y, Adachi Y, Ohno S, Iwase T, Kitagawa D, Nakashima E, Yoshida R, Miki Y, Arai M.
    • Cancer Sci. 2017 Nov;108(11):2287-2294. doi: 10.1111/cas.13350. Epub 2017 Sep 18.
    • Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: a proof of principle study.
    • Bubien V, Bonnet F, Dupiot-Chiron J, Barouk-Simonet E, Jones N, de Reynies A, MacGrogan G, Sevenet N, Letouzé E, Longy M.
    • Genes Chromosomes Cancer. 2017 Nov;56(11):788-799. doi: 10.1002/gcc.22482. Epub 2017 Aug 16.
    • Biallelic Deletion of PALB2 Occurs Across Multiple Tumor Types and Suggests Responsiveness to Poly (ADP-ribose) Polymerase Inhibition.
    • Bhangoo MS, Costantini C, Clifford BT, Chung JH, Schrock AB, Ali SM, Klempner SJ.
    • JCO Precis Oncol. 2017 Nov;1:1-7. doi: 10.1200/PO.17.00043.
    • Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
    • 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 PD, Dunning AM, Easton DF.
    • J Med Genet. 2017 Nov;54(11):732-741. doi: 10.1136/jmedgenet-2017-104588. Epub 2017 Aug 4.
    • Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry.
    • Goldberg M, Bell K, Aronson M, Semotiuk K, Pond G, Gallinger S, Zbuk K.
    • J Med Genet. 2017 Nov;54(11):742-746. doi: 10.1136/jmedgenet-2017-104542. Epub 2017 Aug 4.
    • Clinical and genetic characterization of hereditary breast cancer in a Chinese population.
    • Jian W, Shao K, Qin Q, Wang X, Song S, Wang X.
    • Hered Cancer Clin Pract. 2017 Oct 30;15:19. doi: 10.1186/s13053-017-0079-4. eCollection 2017.
    • Clinical implications of germline mutations in breast cancer: TP53.
    • Schon K, Tischkowitz M.
    • Breast Cancer Res Treat. 2017 Oct 16. doi: 10.1007/s10549-017-4531-y. [Epub ahead of print]
    • PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.
    • Black MH, Li S, Pesaran T, LaDuca H, Karam R, Clifford J, Smith B, Pilarski R.
    • JCO Precis Oncol. 2017 Oct 9;2017. doi: 10.1200/PO.17.00108. Epub 2017 Oct 9.

    Related:

    Letter:

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

    • Association between single nucleotide polymorphism rs9534275 and the risk of coronary artery disease and ischemic stroke.
    • Miao L, Yin RX, Yang S, Huang F, Chen WX, Cao XL.
    • Lipids Health Dis. 2017 Oct 5;16(1):193. doi: 10.1186/s12944-017-0584-5.
    • Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report.
    • Dursun D, Aktaş S, Altun Z, Olgun N.
    • Eur J Breast Health. 2017 Oct 1;13(4):213-215. doi: 10.5152/ejbh.2017.3105. eCollection 2017 Oct.
    • Genetic variants in microRNA-binding sites of DNA repair genes as predictors of recurrence in patients with squamous cell carcinoma of the oropharynx.
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    • Int J Cancer. 2017 Oct 1;141(7):1355-1364. doi: 10.1002/ijc.30849. Epub 2017 Jul 7.
    • CHEK2 gene mutations in breast cancer patients with BRCA1/2 positive or negative status.
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    • Ann Oncol. 2017 Oct;28 Suppl 7:vii7. doi: 10.1093/annonc/mdx508.014.
    • Conference abstract
    • Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
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    • Cancer Genet. 2017 Oct;216-217:159-169. doi: 10.1016/j.cancergen.2017.08.002. Epub 2017 Aug 24.
    • Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers.
    • Gupta S, Greenberg S, Grimmett J, Gaston D, Agarwal N, Lowrance W, Schiffman J, Kohlmann W.
    • Fam Cancer. 2017 Oct;16(4):545-550. doi: 10.1007/s10689-017-9980-2.
    • A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.
    • Gass J, Jackson J, Macklin S, Blackburn P, Hines S, Atwal PS.
    • Fam Cancer. 2017 Oct;16(4):551-553. doi: 10.1007/s10689-017-9982-0.
    • ATM, radiation, and the risk of second primary breast cancer.
    • Bernstein JL; WECARE Study Collaborative Group, Concannon P.
    • Int J Radiat Biol. 2017 Oct;93(10):1121-1127. doi: 10.1080/09553002.2017.1344363. Epub 2017 Jul 27.
    • Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.
    • Concolino P, Rizza R, Hackmann K, Minucci A, Scaglione GL, De Bonis M, Costella A, Zuppi C, Schrock E, Capoluongo E.
    • Mol Diagn Ther. 2017 Oct;21(5):539-545. doi: 10.1007/s40291-017-0288-6.
    • Case report
    • A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer.
    • Polak P, Kim J, Braunstein LZ, Karlic R, Haradhavala NJ, Tiao G, Rosebrock D, Livitz D, Kübler K, Mouw KW, Kamburov A, Maruvka YE, Leshchiner I, Lander ES, Golub TR, Zick A, Orthwein A, Lawrence MS, Batra RN, Caldas C, Haber DA, Laird PW, Shen H, Ellisen LW, D'Andrea AD, Chanock SJ, Foulkes WD, Getz G.
    • Nat Genet. 2017 Oct;49(10):1476-1486. doi: 10.1038/ng.3934. Epub 2017 Aug 21.
    • Identification and Management of TP53 Gene Carriers Detected Through Multigene Panel Testing.
    • Pal T, Brzosowicz J, Valladares A, Wiesner GL, Laronga C.
    • South Med J. 2017 Oct;110(10):643-648. doi: 10.14423/SMJ.0000000000000711.
    • The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
    • Sung PL, Wen KC, Chen YJ, Chao TC, Tsai YF, Tseng LM, Qiu JT, Chao KC, Wu HH, Chuang CM, Wang PH, Huang CF.
    • PLoS One. 2017 Sep 29;12(9):e0185615. doi: 10.1371/journal.pone.0185615. eCollection 2017.
    • CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
    • Hallamies S, Pelttari LM, Poikonen-Saksela P, Jekunen A, Jukkola-Vuorinen A, Auvinen P, Blomqvist C, Aittomäki K, Mattson J, Nevanlinna H.
    • BMC Cancer. 2017 Sep 5;17(1):620. doi: 10.1186/s12885-017-3631-8.
    • Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.
    • Franceschi S, Spugnesi L, Aretini P, Lessi F, Scarpitta R, Galli A, Congregati C, Caligo MA, Mazzanti CM.
    • Carcinogenesis. 2017 Sep 1;38(9):938-943. doi: 10.1093/carcin/bgx069.
    • Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.
    • Thibodeau ML, Reisle C, Zhao E, Martin LA, Alwelaie Y, Mungall KL, Ch'ng C, Thomas R, Ng T, Yip S, Lim H, Sun S, Young SS, Karsan A, Zhao Y, Mungall AJ, Moore RA, Renouf D, Gelmon K, Ma YP, Hayes M, Laskin J, Marra MA, Schrader KA, Jones SJM.
    • Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: a001628. doi: 10.1101/mcs.a001628. Print 2017 Sep.
    • Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
    • Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS.
    • JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424.

    Related:

    Editorial:

    Multigene Panel Testing and Breast Cancer Risk: Is It Time to Scale Down?

    Letter, Comment:

    Ascertainment Bias and Estimating Penetrance.

    Interview, Audio: The Multifaceted Experience of Multigene Panel Testing for Breast Cancer. (OncoTherapy Network)

    • Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
    • Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Heilmann-Heimbach S, Franke A, Lieb W, Thiele H, Altmüller J, Nürnberg P, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
    • JAMA Oncol. 2017 Sep 1;3(9):1245-1248. doi: 10.1001/jamaoncol.2016.5592.
    • A novel germline TP53 mutation p.Pro190Arg detected in a patient with lung and bilateral breast cancers.
    • Krześniak M, Butkiewicz D, Rachtan J, Matuszczyk I, Grzybowska E, Rusin M.
    • Adv Med Sci. 2017 Sep;62(2):207-210. doi: 10.1016/j.advms.2016.12.002. Epub 2017 May 9.
    • Case report
    • A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer.
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    • The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.
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    • Int J Mol Sci. 2017 Aug 31;18(9). pii: E1886. doi: 10.3390/ijms18091886.
    • Calmodulin-like protein 3 is an estrogen receptor alpha coregulator for gene expression and drug response in a SNP, estrogen, and SERM-dependent fashion.
    • Qin S, Ingle JN, Liu M, Yu J, Wickerham DL, Kubo M, Weinshilboum RM, Wang L.
    • Breast Cancer Res. 2017 Aug 18;19(1):95. doi: 10.1186/s13058-017-0890-x.
    • Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.
    • Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD.
    • Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23.
    • Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
    • Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.
    • Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.
    • Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
    • Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H.
    • J Clin Oncol. 2017 Aug 1;35(22):2568-2575. doi: 10.1200/JCO.2016.71.9260. Epub 2017 May 17.
    • Breast cancer risk and clinical implications for germline PTEN mutation carriers.
    • Ngeow J, Sesock K, Eng C.
    • Breast Cancer Res Treat. 2017 Aug;165(1):1-8. doi: 10.1007/s10549-015-3665-z. Epub 2015 Dec 23.
    • Review

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: PTEN article request

    • Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
    • Rummel SK, Lovejoy L, Shriver CD, Ellsworth RE.
    • Breast Cancer Res Treat. 2017 Aug;164(3):593-601. doi: 10.1007/s10549-017-4291-8. Epub 2017 May 13.
    • Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series.
    • McVeigh TP, Cody N, Carroll C, Duff M, Farrell M, Bradley L, Gallagher D, McDevitt T, Green AJ.
    • Cancer Genet. 2017 Aug;214-215:1-8. doi: 10.1016/j.cancergen.2017.02.001. Epub 2017 Mar 22.
    • Breast cancer in a patient with Kindlers syndrome.
    • Mehdi I, Al Bahrani BJ, Al Lawati TM, Mandhari ZA, Al Lawati FR.
    • J Pak Med Assoc. 2017 Aug;67(8):1283-1286.
    • Hereditary diffuse gastric cancer in two families: A case report.
    • Feroce I, Serrano D, Biffi R, Andreoni B, Galimberti V, Sonzogni A, Bottiglieri L, Botteri E, Trovato C, Marabelli M, Ranzani GN, Bonanni B.
    • Oncol Lett. 2017 Aug;14(2):1671-1674. doi: 10.3892/ol.2017.6354. Epub 2017 Jun 8.
    • Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families.
    • Määttä KM, Nurminen R, Kankuri-Tammilehto M, Kallioniemi A, Laasanen SL, Schleutker J.
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    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    Letter:

    A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.

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    • Breast J. 2017 Jan;23(1):90-94. doi: 10.1111/tbj.12691. Epub 2016 Nov 25.
    • Case Report, Review
    • GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families.
    • Schubert S, Ripperger T, Rood M, Petkidis A, Hofmann W, Frye-Boukhriss H, Tauscher M, Auber B, Hille-Betz U, Illig T, Schlegelberger B, Steinemann D.
    • Genes Cancer. 2017 Jan;8(1-2):472-483. doi: 10.18632/genesandcancer.132.
    • An association study between CHEK2 gene mutations and susceptibility to breast cancer.
    • Jalilvand M, Oloomi M, Najafipour R, Alizadeh SA, Saki N, Rad FS, Shekari M.
    • Comp Clin Path. 2017;26(4):837-845. doi: 10.1007/s00580-017-2455-x. Epub 2017 Apr 8.
    • Multiple primary cancers in BRCA 1/2 carriers - A review of literature and our observations.
    • Markowska A, Lubin J, Markowska J, Kasprzak B, Chajewska-Czekańska M, Madry R, Stawicka M.
    • Eur J Gynaecol Oncol. 2017;38(3):361-363.
    • Review
    • The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
    • Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M.
    • PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016.
    • Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.
    • Spugnesi L, Gabriele M, Scarpitta R, Tancredi M, Maresca L, Gambino G, Collavoli A, Aretini P, Bertolini I, Salvadori B, Landucci E, Fontana A, Rossetti E, Roncella M, Naccarato GA, Caligo MA.
    • Genes Chromosomes Cancer. 2016 Dec;55(12):915-924. doi: 10.1002/gcc.22389. Epub 2016 Jul 26.
    • Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.
    • Lee AJ, Cunningham AP, Tischkowitz M, Simard J, Pharoah PD, Easton DF, Antoniou AC.
    • Genet Med. 2016 Dec;18(12):1190-1198. doi: 10.1038/gim.2016.31. Epub 2016 Apr 14.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: PALB2 breast cancer recurrence

    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.

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

    • rs15869 at miRNA binding site in BRCA2 is associated with breast cancer susceptibility.
    • Cao J, Luo C, Yan R, Peng R, Wang K, Wang P, Ye H, Song C.
    • Med Oncol. 2016 Dec;33(12):135. Epub 2016 Nov 2.
    • Beyond BRCA: Hereditary Diffuse Gastric Cancer Syndrome and CDH1 Mutations.
    • [No author given]
    • My Gene Counsel. 2016 Nov 22.
    • Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
    • Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK, Barrowdale D, Benitez J, Berger R, Berthet P, Borg A, Buys SS, Caldes T, Carter J, Chiquette J, Claes KB, Couch FJ, Cybulski C, Daly MB, de la Hoya M, Diez O, Domchek SM, Nathanson KL, Durda K, Ellis S; EMBRACE, Evans DG, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Glendon G, Godwin AK, Greene MH, Gronwald J, Hahnen E, Hallberg E, Hamann U, Hansen TV; HEBON, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska-Bieniek K, John EM, Karlan BY, Kaufman B, Investigators K, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Loman N, Lubinski J, Manoukian S, Mitchell G, Montagna M, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Offit K, Olah E, Olopade OI, Park SK, Piedmonte M, Radice P, Rappaport-Fuerhauser C, Rookus MA, Seynaeve C, Simard J, Singer CF, Soucy P, Southey M, Stoppa-Lyonnet D, Sukiennicki G, Szabo CI, Tancredi M, Teixeira MR, Teo SH, Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Toloczko-Grabarek A, Tung N, van Rensburg EJ, Villano D, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Zidan J, Zorn KK, McGuffog L, Easton D, Chenevix-Trench G, Antoniou AC, Ramus SJ.
    • Breast Cancer Res. 2016 Nov 11;18(1):112.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 and PALB2 mutation

    • 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.
    • Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families.
    • Sedghi M, Esfandiari E, Fazel-Najafabadi E, Salehi M, Salavaty A, Fattahpour S, Dehghani L, Nouri N, Mokarian F.
    • J Res Med Sci. 2016 Nov 2;21:95. doi: 10.4103/1735-1995.193167. eCollection 2016.
    • Rare Variation in TET2 Is Associated with Clinically Relevant Prostate Carcinoma in African-Americans.
    • Koboldt DC, Kanchi KL, Gui B, Larson DE, Fulton R, Isaacs WB, Kraja A, Borecki IB, Jia L, Wilson RK, Mardis ER, Kibel AS.
    • Cancer Epidemiol Biomarkers Prev. 2016 Nov;25(11):1456-1463. Epub 2016 Aug 2.
    • Giant Intrathoracic Meningocele and Breast Cancer in a Neurofibromatosis Type I Patient.
    • Malla HP, Park BJ, Koh JS, Jo DJ.
    • J Korean Neurosurg Soc. 2016 Nov;59(6):650-654. Epub 2016 Oct 24.
    • 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.
    • 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

    • 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
    • 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.
    • Rare variants in BRCA2 and CHEK2 are associated with the risk of urinary tract cancers.
    • Ge Y, Wang Y, Shao W, Jin J, Du M, Ma G, Chu H, Wang M, Zhang Z.
    • Sci Rep. 2016 Sep 16;6:33542. doi: 10.1038/srep33542.
    • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
    • Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB; GEMO Study Collaborators, Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S; EMBRACE, Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hallberg E, Hamann U, Hansen TV, Harrington PA, Hartman M, Hassan N, Healey S; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Heitz F, Herzog J, Høgdall E, Høgdall CK, Hogervorst FB, Hollestelle A, Hopper JL, Hulick PJ, Huzarski T, Imyanitov EN; KConFab Investigators; Australian Ovarian Cancer Study Group, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John EM, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan BY, Khan S, Kiemeney LA, Kjaer SK, Knight JA, Konstantopoulou I, Kosma VM, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine DA, Li J, Lindblom A, Long J, Lophatananon A, Loud JT, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger LF, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp AR, Milne RL, Montagna M, Moysich KB, Muir K, Mulligan AM, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Nord S, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olswold C, O'Malley D, Orlow I, Orr N, Osorio A, Park SK, Pearce CL, Pejovic T, Peterlongo P, Pfeiler G, Phelan CM, Poole EM, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Rhenius V, Rhiem K, Risch HA, Rodriguez G, Rossing MA, Rudolph A, Salvesen HB, Sangrajrang S, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Sellers TA, Seynaeve C, Shah M, Shen CY, Shu XO, Sieh W, Singer CF, Sinilnikova OM, Slager S, Song H, Soucy P, Southey MC, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, Toland AE, Tomlinson I, Torres D, Truong T, Tseng CC, Tung N, Tworoger SS, Vachon C, van den Ouweland AM, van Doorn HC, van Rensburg EJ, Van't Veer LJ, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel JN, Wentzensen N, Whittemore AS, Wildiers H, Winqvist R, Wu AH, Yannoukakos D, Yoon SY, Yu JC, Zheng W, Zheng Y, Khanna KK, Simard J, Monteiro AN, French JD, Couch FJ, Freedman ML, Easton DF, Dunning AM, Pharoah PD, Edwards SL, Chenevix-Trench G, Antoniou AC, Gayther SA.
    • Nat Commun. 2016 Sep 7;7:12675. doi: 10.1038/ncomms12675.
    • 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.
    • Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
    • Leedom TP, LaDuca H, McFarland R, Li S, Dolinsky JS, Chao EC.
    • Cancer Genet. 2016 Sep;209(9):403-407. doi: 10.1016/j.cancergen.2016.08.005. Epub 2016 Aug 15.
    • 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
    • Counselling framework for moderate-penetrance cancer-susceptibility mutations.
    • Tung N, Domchek SM, Stadler Z, Nathanson KL, Couch F, Garber JE, Offit K, Robson ME.
    • Nat Rev Clin Oncol. 2016 Sep;13(9):581-8. doi: 10.1038/nrclinonc.2016.90. Epub 2016 Jun 14.
    • Review
    • RE: BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
    • Arbustini E, Sgarella A, Ferrari A, Grasso D, Cassani C, Lucioni M, Di Giulio G, Grasso M.
    • J Natl Cancer Inst. 2016 Aug 31;108(12). pii: djw172. doi: 10.1093/jnci/djw172. Print 2016 Dec.
    • Letter

    Related:

    Letter, Reply

    Response.

    • Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.
    • Schmidt MK, Hogervorst F, van Hien R, Cornelissen S, Broeks A, Adank MA, Meijers H, Waisfisz Q, Hollestelle A, Schutte M, van den Ouweland A, Hooning M, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Arndt V, Bermisheva M, Bogdanova NV, Bolla MK, Brauch H, Brenner H, Brüning T, Burwinkel B, Chang-Claude J, Chenevix-Trench G, Couch FJ, Cox A, Cross SS, Czene K, Dunning AM, Fasching PA, Figueroa J, Fletcher O, Flyger H, Galle E, García-Closas M, Giles GG, Haeberle L, Hall P, Hillemanns P, Hopper JL, Jakubowska A, John EM, Jones M, Khusnutdinova E, Knight JA, Kosma VM, Kristensen V, Lee A, Lindblom A, Lubinski J, Mannermaa A, Margolin S, Meindl A, Milne RL, Muranen TA, Newcomb PA, Offit K, Park-Simon TW, Peto J, Pharoah PD, Robson M, Rudolph A, Sawyer EJ, Schmutzler RK, Seynaeve C, Soens J, Southey MC, Spurdle AB, Surowy H, Swerdlow A, Tollenaar RA, Tomlinson I, Trentham-Dietz A, Vachon C, Wang Q, Whittemore AS, Ziogas A, van der Kolk L, Nevanlinna H, Dörk T, Bojesen S, Easton DF.
    • J Clin Oncol. 2016 Aug 10;34(23):2750-60. doi: 10.1200/JCO.2016.66.5844. Epub 2016 Jun 6.
    • Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
    • Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavičius R, Macháčková E, Foretová L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, DiDonato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, Schröck E, Klink B.
    • PLoS Genet. 2016 Aug 9;12(8):e1006248. doi: 10.1371/journal.pgen.1006248. eCollection 2016.
    • Multigene Panel Tests Yield Clues to Breast and Ovarian Cancer Risk.
    • Greg Kennelty.
    • Oncology Nursing News. 2016 Aug 3.
    • Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
    • van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA.
    • Clin Genet. 2016 Aug;90(2):105-17. doi: 10.1111/cge.12710. Epub 2016 Jan 20.
    • Review

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    • 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.
    • A family-based, genome-wide association study of young-onset breast cancer: inherited variants and maternally mediated effects.
    • O'Brien KM, Shi M, Sandler DP, Taylor JA, Zaykin DV, Keller J, Wise AS, Weinberg CR.
    • Eur J Hum Genet. 2016 Aug;24(9):1316-23. doi: 10.1038/ejhg.2016.11. Epub 2016 Feb 17.
    • 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.
    • 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.
    • Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes.
    • Lindor NM, Hopper J, Dowty J.
    • Fam Cancer. 2016 Jul;15(3):367-70. doi: 10.1007/s10689-016-9896-2.
    • Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.
    • Marabelli M, Cheng SC, Parmigiani G.
    • Genet Epidemiol. 2016 Jul;40(5):425-31. doi: 10.1002/gepi.21971. Epub 2016 Apr 25.
    • 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.

    • Common variation in BRCA1 may have a role in progression to lethal prostate cancer after radiation treatment.
    • Sanchez A, Schoenfeld JD, Nguyen PL, Fiorentino M, Chowdhury D, Stampfer MJ, Sesso HD, Giovannucci E, Mucci LA, Shui IM.
    • Prostate Cancer Prostatic Dis. 2016 Jun;19(2):197-201. doi: 10.1038/pcan.2016.4. Epub 2016 Mar 1.
    • 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.
    • 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 May 25. doi: 10.1002/gcc.22381. [Epub ahead of print]
    • Meta-Analysis, Review
    • 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.
    • Pyrosequencing quantified methylation level of BRCA1 promoter as prognostic factor for survival in breast cancer patient.
    • Cai FF, Chen S, Wang MH, Lin XY, Zhang L, Zhang JX, Wang LX, Yang J, Ding JH, Pan X, Shao ZM, Biskup E.
    • Oncotarget. 2016 May 10;7(19):27499-510. doi: 10.18632/oncotarget.8355.
    • 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.
    • Polymorphism rs144848 in BRCA2 may reduce lung cancer risk in women: a case-control study in southeast China.
    • Lin Y, He F, Zhang X, Yu T, Liu Z, Cai L.
    • Tumori. 2016 Apr 18;102(2):150-5. doi: 10.5301/tj.5000473. Epub 2016 Feb 15.
    • 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.
    • Inherited Mutations in Women With Ovarian Carcinoma.
    • Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, Chan JK, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King MC, Swisher EM, Birrer MJ.
    • JAMA Oncol. 2016 Apr 1;2(4):482-490. doi: 10.1001/jamaoncol.2015.5495.

    Related:

    Commentary

    Germline Sequence Variants and Ovarian Cancer: Known-Knowns and Known-Unknowns.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: article request

    • 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.
    • Identification and frequency of the rs12516 and rs8176318 BRCA1 gene polymorphisms among different populations.
    • Yang F, Chen F, Xu J, Guan X.
    • Oncol Lett. 2016 Apr;11(4):2481-2486. Epub 2016 Feb 19.
    • 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

    • Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant.
    • Schrader KA, Stratton KL, Murali R, Laitman Y, Cavallone L, Offit L, Wen YH, Thomas T, Shah S, Rau-Murthy R, Manschreck C, Salo-Mullen E, Otegbeye E, Corines M, Zhang L, Norton L, Hudis C, Klein RJ, Kauff ND, Robson M, Stadler ZK, Haber DA, Lipkin SM, Friedman E, Foulkes WD, Altshuler D, Vijai J, Offit K.
    • J Clin Oncol. 2016 Mar 10;34(8):e61-7. doi: 10.1200/JCO.2013.50.0272. Epub 2014 Jun 30.
    • Genetic evaluation of BRCA1 associated a complex genes with triple-negative breast cancer susceptibility in Chinese women.
    • Ling H, Li S, Wu Y, Zheng YZ, Qiao F, Yao L, Cao ZG, Ye FG, Wu J, Hu X, Wang B, Shao ZM.
    • Oncotarget. 2016 Mar 1;7(9):9759-72. doi: 10.18632/oncotarget.7112.
    • The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.
    • Laitman Y, Boker-Keinan L, Berkenstadt M, Liphsitz I, Weissglas-Volkov D, Ries-Levavi L, Sarouk I, Pras E, Friedman E.
    • Cancer Genet. 2016 Mar;209(3):70-4. doi: 10.1016/j.cancergen.2015.12.006. Epub 2015 Dec 22.
    • 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.

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    Letter

    Common genetic susceptibility to DCIS and invasive ductal carcinoma.

    • When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.
    • Wong-Brown M, McPhillips M, Gleeson M, Spigelman AD, Meldrum CJ, Dooley S, Scott RJ.
    • Hered Cancer Clin Pract. 2016 Feb 16;14:6. doi: 10.1186/s13053-015-0045-y. eCollection 2016.
    • Clinical and Pathological Characteristics of Incidental Diagnostic Early Occult Malignancy After Risk-Reducing Salpingo-Oophorectomy in BRCA Mutation Carriers.
    • Lavie O, Moskoviz MG, Auslender R, Gemer O, Bitterman A, Younes G, Segev Y.
    • Int J Gynecol Cancer. 2016 Feb;26(2):233-9. doi: 10.1097/IGC.0000000000000624.
    • Brca1 deficiency causes bone marrow failure and spontaneous hematologic malignancies in mice.
    • Vasanthakumar A, Arnovitz S, Marquez R, Lepore J, Rafidi G, Asom A, Weatherly M, Davis EM, Neistadt B, Duszynski R, Vardiman JW, Le Beau MM, Godley LA, Churpek JE.
    • Blood. 2016 Jan 21;127(3):310-3. doi: 10.1182/blood-2015-03-635599. Epub 2015 Dec 7.
    • 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.
    • Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
    • Wong ESY, Shekar S, Met-Domestici M, Chan C, Sze M, Yap YS, Rozen SG, Tan MH, Ang P, Ngeow J, Lee ASG.
    • NPJ Genom Med. 2016 Jan 13;1:15003. doi: 10.1038/npjgenmed.2015.3. eCollection 2016.
    • Biallelic FANCD1/BRCA2 mutations predisposing to glioblastoma multiforme with multiple oncogenic amplifications.
    • Dodgshun AJ, Sexton-Oates A, Saffery R, Sullivan MJ.
    • Cancer Genet. 2016 Jan-Feb;209(1-2):53-6. doi: 10.1016/j.cancergen.2015.11.005. Epub 2015 Dec 9.
    • 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.
    • 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
    • Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
    • Li J, Meeks H, Feng BJ, Healey S, Thorne H, Makunin I, Ellis J; kConFab Investigators, Campbell I, Southey M, Mitchell G, Clouston D, Kirk J, Goldgar D, Chenevix-Trench G.
    • J Med Genet. 2016 Jan;53(1):34-42. doi: 10.1136/jmedgenet-2015-103452. Epub 2015 Nov 3.
    • Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
    • Loizidou MA, Hadjisavvas A, Tanteles GA, Spanou-Aristidou E, Kyriacou K, Christophidou-Anastasiadou V.
    • Oncol Lett. 2016 Jan;11(1):471-473. Epub 2015 Nov 2.
    • 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.
    • [CHEK2-associated hereditary breast cancer].
    • Bessonov AA, Iyevleva AG, Imyanitov EN, Sokolenko AP.
    • Vopr Onkol. 2016;62(6):753-757.
    • Review, [Article in Russian]
    • 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]
    • Association of BRCA1 promoter methylation with sporadic breast cancers: Evidence from 40 studies.
    • Zhang L, Long X.
    • Sci Rep. 2015 Dec 8;5:17869. doi: 10.1038/srep17869.
    • [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]
    • [Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene -  Case Report].
    • Puchmajerová A, Švojgr K, Novotná D, Macháčková E, Sumerauer D, Smíšek P, Kodet R, Kynčl M, Křepelová A, Foretová L.
    • Klin Onkol. 2015 Winter;29 Suppl 1:89-92.
    • Case report, [Article in Czech]
    • Genomic profiling of CHEK2*1100delC-mutated breast carcinomas.
    • Massink MP, Kooi IE, Martens JW, Waisfisz Q, Meijers-Heijboer H.
    • BMC Cancer. 2015 Nov 9;15:877. doi: 10.1186/s12885-015-1880-y.
    • PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.
    • Li YT, Jiang WH, Wang XW, Zhang MS, Zhang CG, Yi LN, WuwaliKhan F, Ayoufu A, Ou JH.
    • Eur J Med Res. 2015 Oct 21;20(1):85. doi: 10.1186/s40001-015-0182-9.
    • A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk.
    • Wang N, Ding H, Liu C, Li X, Wei L, Yu J, Liu M, Ying M, Gao W, Jiang H, Wang Y.
    • Oncogene. 2015 Oct 1;34(40):5198-205. doi: 10.1038/onc.2014.443. Epub 2015 Jan 26.
    • Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing.
    • Ataei-Kachouei M, Nadaf J, Akbari MT, Atri M, Majewski J, Riazalhosseini Y, Garshasbi M.
    • Iran J Public Health. 2015 Oct;44(10):1348-1352.
    • Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers.
    • Kriege M, Jager A, Hollestelle A, Berns EM, Blom J, Meijer-van Gelder ME, Sieuwerts AM, van den Ouweland A, Collée JM, Kroep JR, Martens JW, Hooning MJ, Seynaeve C.
    • J Cancer Res Clin Oncol. 2015 Oct;141(10):1879-87. doi: 10.1007/s00432-015-1981-7. Epub 2015 May 10.
    • BRCA2 N372H Polymorphism and Risk of Epithelial Ovarian Cancer: An Updated Meta-Analysis With 2344 Cases and 9672 Controls.
    • Su L, Wang J, Tao Y, Shao X, Ding Y, Cheng X, Zhu Y.
    • Medicine (Baltimore). 2015 Oct;94(42):e1695. doi: 10.1097/MD.0000000000001695.
    • FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
    • Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS, Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA, Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P.
    • Clin Cancer Res. 2015 Sep 15;21(18):4086-96. doi: 10.1158/1078-0432.CCR-15-0296. Epub 2015 May 11.
    • Meta-Analysis
    • A case of familial breast cancer with double heterozygosity for BRCA1 and BRCA2 genes.
    • Nomizu T, Matsuzaki M, Katagata N, Kobayashi Y, Sakuma T, Monma T, Saito M, Watanabe F, Midorikawa S, Yamaguchi Y.
    • Breast Cancer. 2015 Sep;22(5):557-61. doi: 10.1007/s12282-012-0432-4. Epub 2012 Dec 15.
    • Case report

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 and BRCA2 mutation carriers?

    • Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies.
    • Aloraifi F, McCartan D, McDevitt T, Green AJ, Bracken A, Geraghty J.
    • Cancer Genet. 2015 Sep;208(9):455-63. doi: 10.1016/j.cancergen.2015.06.001. Epub 2015 Jun 14.
    • Meta-Analysis
    • Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation.
    • Vietri MT, Caliendo G, Schiano C, Casamassimi A, Molinari AM, Napoli C, Cioffi M.
    • Fam Cancer. 2015 Sep;14(3):341-8. doi: 10.1007/s10689-015-9786-z.
    • Letter
    • Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.
    • Kim H, Cho DY, Choi DH, Jung GH, Shin I, Park W, Huh SJ, Kim SW, Park SK, Lee JW, Nam SJ, Lee JE, Gil WH, Kim SW.
    • Fam Cancer. 2015 Sep;14(3):365-71. doi: 10.1007/s10689-015-9789-9.
    • Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
    • Thompson ER, Gorringe KL, Rowley SM, Wong-Brown MW, McInerny S, Li N, Trainer AH, Devereux L, Doyle MA, Li J, Lupat R, Delatycki MB; LifePool Investigators, Mitchell G, James PA, Scott RJ, Campbell IG.
    • Breast Cancer Res. 2015 Aug 19;17(1):111. doi: 10.1186/s13058-015-0627-7.
    • Breast cancer risk in women with PALB2 mutations in different populations.
    • Antoniou AC, Foulkes WD, Tischkowitz M; PALB2 Interest Group.
    • Lancet Oncol. 2015 Aug;16(8):e375-6. doi: 10.1016/S1470-2045(15)00002-9.

    Related:

    Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.

    • Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.
    • Mantere T, Haanpää M, Hanenberg H, Schleutker J, Kallioniemi A, Kähkönen M, Parto K, Avela K, Aittomäki K, von Koskull H, Hartikainen JM, Kosma VM, Laasanen SL, Mannermaa A, Pylkäs K, Winqvist R.
    • Clin Genet. 2015 Jul;88(1):68-73. doi: 10.1111/cge.12447. Epub 2014 Jul 30.
    • Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.
    • Janatova M, Soukupova J, Stribrna J, Kleiblova P, Vocka M, Boudova P, Kleibl Z, Pohlreich P.
    • PLoS One. 2015 Jun 9;10(6):e0127711. doi: 10.1371/journal.pone.0127711. eCollection 2015.
    • Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.
    • Miele E, Mastronuzzi A, Po A, Carai A, Alfano V, Serra A, Colafati GS, Strocchio L, Antonelli M, Buttarelli FR, Zani M, Ferraro S, Buffone A, Vacca A, Screpanti I, Giangaspero F, Giannini G, Locatelli F, Ferretti E.
    • Biomark Res. 2015 Jun 6;3:13. doi: 10.1186/s40364-015-0038-z. eCollection 2015.
    • Ovarian microcystic stromal tumor: A novel extracolonic tumor in familial adenomatous polyposis.
    • Lee SH, Koh YW, Roh HJ, Cha HJ, Kwon YS.
    • Genes Chromosomes Cancer. 2015 Jun;54(6):353-60. doi: 10.1002/gcc.22233. Epub 2015 Mar 28.
    • Case report
    • Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, 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.
    • Lancet Oncol. 2015 Jun;16(6):638-644. doi: 10.1016/S1470-2045(15)70142-7. Epub 2015 May 7.

    Related:

    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)

    • Ten modifiers of BRCA1 penetrance validated in a Norwegian series.
    • Heramb C, Ekstrøm PO, Tharmaratnam K, Hovig E, Møller P, Mæhle L.
    • Hered Cancer Clin Pract. 2015 May 30;13(1):14. doi: 10.1186/s13053-015-0035-0. eCollection 2015.
    • Letters from iceland.
    • [No authors listed]
    • Nat Genet. 2015 Apr 28;47(5):425. doi: 10.1038/ng.3277.

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    Large-scale whole-genome sequencing of the Icelandic population.

    Research News

    Largest set of human genomes from a single population is sequenced.

    • An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
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    • Association of genetic polymorphisms in AURKA, BRCA1, CCNE1 and CDK2 with the risk of endometrial carcinoma and clinicopathological parameters among Chinese Han women.
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    • Association between Neurofibromatosis Type 1 and Breast Cancer: A Report of Two Cases with a Review of the Literature.
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    • 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.

    • FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.
    • Laitman Y, Ries-Levavi L, Berkensdadt M, Korach J, Perri T, Pras E, Friedman E.
    • Genet Res (Camb). 2014 Oct 8;96:e11. doi: 10.1017/S0016672314000147.
    • 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.
    • Can multiple SNP testing in BRCA2 and BRCA1 female carriers be used to improve risk prediction models in conjunction with clinical assessment?
    • Prosperi MC, Ingham SL, Howell A, Lalloo F, Buchan IE, Evans DG.
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    • 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.
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    • Hum Mol Genet. 2014 Sep 1;23(17):4703-9. doi: 10.1093/hmg/ddu172. Epub 2014 Apr 12.
    • 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.
    • PALB2 gene increases breast cancer risk.
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    • News
    • Germline mutations of TP53 gene in breast cancer.
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    • Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.
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    • 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.
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    • Sequence-based detection of mutations in cadherin 1 to determine the prevalence of germline mutations in patients with invasive lobular carcinoma of the breast.
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    • 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.

    • Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
    • Wang Y, McKay JD, Rafnar T, Wang Z, Timofeeva MN, Broderick P, Zong X, Laplana M, Wei Y, Han Y, Lloyd A, Delahaye-Sourdeix M, Chubb D, Gaborieau V, Wheeler W, Chatterjee N, Thorleifsson G, Sulem P, Liu G, Kaaks R, Henrion M, Kinnersley B, Vallée M, LeCalvez-Kelm F, Stevens VL, Gapstur SM, Chen WV, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Krokan HE, Gabrielsen ME, Skorpen F, Vatten L, Njølstad I, Chen C, Goodman G, Benhamou S, Vooder T, Välk K, Nelis M, Metspalu A, Lener M, Lubiński J, Johansson M, Vineis P, Agudo A, Clavel-Chapelon F, Bueno-de-Mesquita HB, Trichopoulos D, Khaw KT, Johansson M, Weiderpass E, Tjønneland A, Riboli E, Lathrop M, Scelo G, Albanes D, Caporaso NE, Ye Y, Gu J, Wu X, Spitz MR, Dienemann H, Rosenberger A, Su L, Matakidou A, Eisen T, Stefansson K, Risch A, Chanock SJ, Christiani DC, Hung RJ, Brennan P, Landi MT, Houlston RS, Amos CI.
    • Nat Genet. 2014 Jul;46(7):736-41. doi: 10.1038/ng.3002. Epub 2014 Jun 1.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 increased risk for lung cancer?

    Subject: BRCA2 testing for lung cancer?

    News

    BRCA2 Mutation Linked to Lung Cancer Risk.

    Research News

    Smokers with gene defect have higher risk of developing lung cancer.

    Press: BRCA2 gene mutations linked to lung cancer risk in smokers (PHG Foundation)

    Press: BRCA2 Variant Linked to Lung Cancer Risk. (Medscape Oncology)

    • A BRCA1-mutation associated DNA methylation signature in blood cells predicts sporadic breast cancer incidence and survival.
    • Anjum S, Fourkala EO, Zikan M, Wong A, Gentry-Maharaj A, Jones A, Hardy R, Cibula D, Kuh D, Jacobs IJ, Teschendorff AE, Menon U, Widschwendter M.
    • Genome Med. 2014 Jun 27;6(6):47. doi: 10.1186/gm567. eCollection 2014.

    Related:

    Press: Prospects for blood test to predict breast cancer risk. (PHG Foundation)

    • 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.
    • 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.
    • Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma.
    • Wójcicka A, Czetwertyńska M, Świerniak M, Długosińska J, Maciąg M, Czajka A, Dymecka K, Kubiak A, Kot A, Płoski R, de la Chapelle A, Jażdżewski K.
    • Genes Chromosomes Cancer. 2014 Jun;53(6):516-23. doi: 10.1002/gcc.22162. Epub 2014 Mar 6.
    • Association of BRCA2 variants with cardiovascular disease in Saudi Arabia.
    • Alanazi M, Reddy NP, Shaik JP, Ajaj SA, Jafari AA, Saeed H, Khan Z, Khan AP.
    • Genet Mol Res. 2014 May 16;13(2):3876-84. doi: 10.4238/2014.May.16.13.
    • Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2.
    • Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, Hoskins K, Nussbaum R, Esserman L, Garber JE, Kaklamani VG; Northwestern Cancer Genetics Group.
    • Cancer. 2014 May 15;120(10):1557-64. doi: 10.1002/cncr.28577. Epub 2014 Feb 12.
    • Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
    • Purrington KS, Slager S, Eccles D, Yannoukakos D, Fasching PA, Miron P, Carpenter J, Chang-Claude J, Martin NG, Montgomery GW, Kristensen V, Anton-Culver H, Goodfellow P, Tapper WJ, Rafiq S, Gerty SM, Durcan L, Konstantopoulou I, Fostira F, Vratimos A, Apostolou P, Konstanta I, Kotoula V, Lakis S, Dimopoulos MA, Skarlos D, Pectasides D, Fountzilas G, Beckmann MW, Hein A, Ruebner M, Ekici AB, Hartmann A, Schulz-Wendtland R, Renner SP, Janni W, Rack B, Scholz C, Neugebauer J, Andergassen U, Lux MP, Haeberle L, Clarke C, Pathmanathan N, Rudolph A, Flesch-Janys D, Nickels S, Olson JE, Ingle JN, Olswold C, Slettedahl S, Eckel-Passow JE, Anderson SK, Visscher DW, Cafourek VL, Sicotte H, Prodduturi N, Weiderpass E, Bernstein L, Ziogas A, Ivanovich J, Giles GG, Baglietto L, Southey M, Kosma VM, Fischer HP; GENICA Network, Reed MW, Cross SS, Deming-Halverson S, Shrubsole M, Cai Q, Shu XO, Daly M, Weaver J, Ross E, Klemp J, Sharma P, Torres D, Rüdiger T, Wölfing H, Ulmer HU, Försti A, Khoury T, Kumar S, Pilarski R, Shapiro CL, Greco D, Heikkilä P, Aittomäki K, Blomqvist C, Irwanto A, Liu J, Pankratz VS, Wang X, Severi G, Mannermaa A, Easton D, Hall P, Brauch H, Cox A, Zheng W, Godwin AK, Hamann U, Ambrosone C, Toland AE, Nevanlinna H, Vachon CM, Couch FJ.
    • Carcinogenesis. 2014 May;35(5):1012-9. doi: 10.1093/carcin/bgt404. Epub 2013 Dec 9.
    • Polymorphisms in DNA repair genes and MDR1 and the risk for non-Hodgkin lymphoma.
    • Kim HN, Kim NY, Yu L, Kim YK, Lee IK, Yang DH, Lee JJ, Shin MH, Park KS, Choi JS, Kim HJ.
    • Int J Mol Sci. 2014 Apr 21;15(4):6703-16. doi: 10.3390/ijms15046703.
    • A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.
    • Bąk A, Janiszewska H, Junkiert-Czarnecka A, Heise M, Pilarska-Deltow M, Laskowski R, Pasińska M, Haus O.
    • Hered Cancer Clin Pract. 2014 Apr 8;12(1):10. doi: 10.1186/1897-4287-12-10.
    • DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
    • Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I, Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A, Swe-Brca, Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J, Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P, Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S, Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P, Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Damiola F, Poppe B, Claes K, Piedmonte M, Tucker K, Backes F, Rodríguez G, Brewster W, Wakeley K, Rutherford T, Caldés T, Nevanlinna H, Aittomäki K, Rookus MA, van Os TA, van der Kolk L, de Lange JL, Meijers-Heijboer HE, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Hoogerbrugge N, Collée JM, van Deurzen CH, van der Luijt RB, Devilee P, Hebon, Olah E, Lázaro C, Teulé A, Menéndez M, Jakubowska A, Cybulski C, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Johannsson OT, Maugard C, Montagna M, Tognazzo S, Teixeira MR, Healey S, Investigators K, Olswold C, Guidugli L, Lindor N, Slager S, Szabo CI, Vijai J, Robson M, Kauff N, Zhang L, Rau-Murthy R, Fink-Retter A, Singer CF, Rappaport C, Geschwantler Kaulich D, Pfeiler G, Tea MK, Berger A, Phelan CM, Greene MH, Mai PL, Lejbkowicz F, Andrulis I, Mulligan AM, Glendon G, Toland AE, Bojesen A, Pedersen IS, Sunde L, Thomassen M, Kruse TA, Jensen UB, Friedman E, Laitman Y, Shimon SP, Simard J, Easton DF, Offit K, Couch FJ, Chenevix-Trench G, Antoniou AC, Benitez J.
    • PLoS Genet. 2014 Apr 3;10(4):e1004256. doi: 10.1371/journal.pgen.1004256. eCollection 2014.
    • Genetic predisposition to breast cancer: The next chapters.
    • Boyd J.
    • Cancer. 2014 Apr 1;120(7):932-4. doi: 10.1002/cncr.28503. Epub 2014 Jan 10.

    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.

    • Survival from breast cancer in patients with CHEK2 mutations.
    • Huzarski T, Cybulski C, Wokolorczyk D, Jakubowska A, Byrski T, Gronwald J, Domagała P, Szwiec M, Godlewski D, Kilar E, Marczyk E, Siołek M, Wiśniowski R, Janiszewska H, Surdyka D, Sibilski R, Sun P, Lubiński J, Narod SA.
    • Breast Cancer Res Treat. 2014 Apr;144(2):397-403. doi: 10.1007/s10549-014-2865-2. Epub 2014 Feb 21.
    • Lobular breast cancer in a CDH1 splice site mutation carrier: case report and review of the literature.
    • McVeigh TP, Choi JK, Miller NM, Green AJ, Kerin MJ.
    • Clin Breast Cancer. 2014 Apr;14(2):e47-51. doi: 10.1016/j.clbc.2013.10.007. Epub 2013 Oct 25.
    • Case Report, Review
    • Is there a link between ovarian cancer and tooth agenesis?
    • Bonds J, Pollan-White S, Xiang L, Mues G, D'Souza R.
    • Eur J Med Genet. 2014 Apr;57(5):235-9. doi: 10.1016/j.ejmg.2014.02.013. Epub 2014 Mar 12.
    • Association Between IHC and MSI Testing to Identify Mismatch Repair-Deficient Patients with Ovarian Cancer.
    • Lee JH, Cragun D, Thompson Z, Coppola D, Nicosia SV, Akbari M, Zhang S, McLaughlin J, Narod S, Schildkraut J, Sellers TA, Pal T.
    • Genet Test Mol Biomarkers. 2014 Apr;18(4):229-35. doi: 10.1089/gtmb.2013.0393. Epub 2014 Mar 4.
    • A Novel Splice Site Mutation in the Noncoding Region of BRCA2: Implications for Fanconi Anemia and Familial Breast Cancer Diagnostics.
    • Bakker JL, Thirthagiri E, van Mil SE, Adank MA, Ikeda H, Verheul HM, Meijers-Heijboer H, de Winter JP, Sharan SK, Waisfisz Q.
    • Hum Mutat. 2014 Apr;35(4):442-6. doi: 10.1002/humu.22505. Epub 2014 Feb 15.
    • Breast cancer. The 'other' breast cancer genes.
    • Kean S.
    • Science. 2014 Mar 28;343(6178):1457-9. doi: 10.1126/science.343.6178.1457.
    • News
    • Next-generation sequencing for inherited breast cancer risk: counseling through the complexity.
    • Rainville IR, Rana HQ.
    • Curr Oncol Rep. 2014 Mar;16(3):371. doi: 10.1007/s11912-013-0371-z.
    • Case report, Review

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request multigene panels

    • Double heterozygosity for BRCA1 and hMLH1 gene mutations in a 46-year-old woman with five primary tumors.
    • Pedroni M, Di Gregorio C, Cortesi L, Reggiani Bonetti L, Magnani G, Simone ML, Medici V, Priore Oliva C, Marino M, Ponz de Leon M.
    • Tech Coloproctol. 2014 Mar;18(3):285-9. doi: 10.1007/s10151-013-1030-y. Epub 2013 May 22.
    • Case report
    • Germline CDH1 mutations in bilateral lobular carcinoma in situ.
    • Petridis C, Shinomiya I, Kohut K, Gorman P, Caneppele M, Shah V, Troy M, Pinder SE, Hanby A, Tomlinson I, Trembath RC, Roylance R, Simpson MA, Sawyer EJ.
    • Br J Cancer. 2014 Feb 18;110(4):1053-7. doi: 10.1038/bjc.2013.792. Epub 2013 Dec 24.
    • Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
    • Cunningham JM, Cicek MS, Larson NB, Davila J, Wang C, Larson MC, Song H, Dicks EM, Harrington P, Wick M, Winterhoff BJ, Hamidi H, Konecny GE, Chien J, Bibikova M, Fan JB, Kalli KR, Lindor NM, Fridley BL, Pharoah PP, Goode EL.
    • Sci Rep. 2014 Feb 7;4:4026. doi: 10.1038/srep04026.
    • A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
    • Pradella LM, Evangelisti C, Ligorio C, Ceccarelli C, Neri I, Zuntini R, Amato LB, Ferrari S, Martelli AM, Gasparre G, Turchetti D.
    • BMC Cancer. 2014 Feb 6;14:70. doi: 10.1186/1471-2407-14-70.
    • Preliminary monocentric results of biological characteristics of pregnancy associated breast cancer.
    • Michieletto S, Saibene T, Evangelista L, Barbazza F, Grigoletto R, Rossi G, Ghiotto C, Bozza F.
    • Breast. 2014 Feb;23(1):19-25. doi: 10.1016/j.breast.2013.10.001. Epub 2013 Nov 1.
    • Genomic analysis of primordial dwarfism reveals novel disease genes.
    • Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS.
    • Genome Res. 2014 Feb;24(2):291-9. doi: 10.1101/gr.160572.113. Epub 2014 Jan 3.
    • Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.
    • Meyer S, Tischkowitz M, Chandler K, Gillespie A, Birch JM, Evans DG.
    • J Med Genet. 2014 Feb;51(2):71-5. doi: 10.1136/jmedgenet-2013-101642. Epub 2013 Nov 20.
    • 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.
    • Mol Biol Rep. 2014 Feb;41(2):1103-7. doi: 10.1007/s11033-013-2956-x. Epub 2014 Jan 4.
    • Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer.
    • Wong-Brown MW, Avery-Kiejda KA, Bowden NA, Scott RJ.
    • Int J Cancer. 2014 Jan 15;134(2):301-5. doi: 10.1002/ijc.28361. Epub 2013 Sep 23.
    • [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.
    • Huijts PE, Hollestelle A, Balliu B, Houwing-Duistermaat JJ, Meijers CM, Blom JC, Ozturk B, Krol-Warmerdam EM, Wijnen J, Berns EM, Martens JW, Seynaeve C, Kiemeney LA, van der Heijden HF, Tollenaar RA, Devilee P, van Asperen CJ.
    • Eur J Hum Genet. 2014 Jan;22(1):46-51. doi: 10.1038/ejhg.2013.85. Epub 2013 May 8.
    • Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
    • Heitzer E, Lax S, Lafer I, Müller SM, Pristauz G, Ulz P, Jahn S, Högenauer C, Petru E, Speicher MR, Geigl JB.
    • BMC Med Genet. 2013 Dec 29;14:129. doi: 10.1186/1471-2350-14-129.
    • 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.
    • A common nonsense mutation of the BLM gene and prostate cancer risk and survival.
    • Antczak A, Kluźniak W, Wokołorczyk D, Kashyap A, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Dębniak T, Masojć B, Górski B, Gromowski T, Nagorna A, Gołąb A, Sikorski A, Słojewski M, Gliniewicz B, Borkowski T, Borkowski A, Przybyła J, Sosnowski M, Małkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych J, Wilkosz J, Różański W, Kiś J, Bar K, Domagała P, Stawicka M, Milecki P, Akbari MR, Narod SA, Lubiński J, Cybulski C; Polish Hereditary Prostate Cancer Consortium; Other members of the Polish Hereditary Prostate Cancer Consortium.
    • Gene. 2013 Dec 15;532(2):173-6. doi: 10.1016/j.gene.2013.09.079. Epub 2013 Oct 2.
    • The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer.
    • Janatova M, Kleibl Z, Stribrna J, Panczak A, Vesela K, Zimovjanova M, Kleiblova P, Dundr P, Soukupova J, Pohlreich P.
    • Cancer Epidemiol Biomarkers Prev. 2013 Dec;22(12):2323-32. doi: 10.1158/1055-9965.EPI-13-0745-T. Epub 2013 Oct 17.
    • Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family.
    • Vietri MT, Molinari AM, Caliendo G, De Paola ML, Giovanna D, Gambardella AL, Petronella P, Cioffi M.
    • Clin Chem Lab Med. 2013 Dec;51(12):2319-24. doi: 10.1515/cclm-2013-0263.
    • Case report
    • 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.
    • Teo ZL, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L, Southey MC.
    • Fam Cancer. 2013 Dec;12(4):587-95. doi: 10.1007/s10689-013-9620-4.
    • Letter
    • Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.
    • Bielinska B, Gaj P, Kluska A, Nowakowska D, Balabas A, Dabrowska M, Niwinska A, Gruchota J, Zub R, Skasko E, Steffen J, Ostrowski J, Siedlecki JA.
    • Fam Cancer. 2013 Dec;12(4):691-8. doi: 10.1007/s10689-013-9647-6.
    • Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles.
    • Osorio A, Bogliolo M, Fernández V, Barroso A, de la Hoya M, Caldés T, Lasa A, Ramón Y Cajal T, Santamariña M, Vega A, Quiles F, Lázaro C, Díez O, Fernández D, González-Sarmiento R, Durán M, Piqueras JF, Marín M, Pujol R, Surrallés J, Benítez J.
    • Hum Mutat. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7.
    • Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families.
    • Rudnicka H, Debniak T, Cybulski C, Huzarski T, Gronwald J, Lubinski J, Gorski B.
    • Mol Biol Rep. 2013 Dec;40(12):6619-23. doi: 10.1007/s11033-013-2775-0. Epub 2013 Sep 25.
    • Can selenium be a modifier of cancer risk in CHEK2 mutation carriers?
    • Gupta S, Jaworska-Bieniek K, Lubinski J, Jakubowska A.
    • Mutagenesis. 2013 Nov;28(6):625-9. doi: 10.1093/mutage/get050. Epub 2013 Oct 8.
    • Germline mutation in the RAD51B gene confers predisposition to breast cancer.
    • Golmard L1, Caux-Moncoutier V, Davy G, Al Ageeli E, Poirot B, Tirapo C, Michaux D, Barbaroux C, d'Enghien CD, Nicolas A, Castéra L, Sastre-Garau X, Stern MH, Houdayer C, Stoppa-Lyonnet D.
    • BMC Cancer. 2013 Oct 19;13:484. doi: 10.1186/1471-2407-13-484.
    • 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?
    • Lynch H, Wen H, Kim YC, Snyder C, Kinarsky Y, Chen PX, Xiao F, Goldgar D, Cowan KH, Wang SM.
    • Breast J. 2013 Sep;19(5):520-8. doi: 10.1111/tbj.12145. Epub 2013 Jun 26.
    • The complex genetic landscape of familial breast cancer.
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    • Hum Genet. 2013 Aug;132(8):845-63. doi: 10.1007/s00439-013-1299-y. Epub 2013 Apr 5.
    • 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.
    • PLoS One. 2013 Jul 23;8(7):e67538. doi: 10.1371/journal.pone.0067538. Print 2013.
    • 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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    • BMC Med Genet. 2013 Jul 13;14:70. doi: 10.1186/1471-2350-14-70.
    • Tumour morphology predicts PALB2 germline mutation status.
    • Teo ZL, Provenzano E, Dite GS, Park DJ, Apicella C, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L; kConFab, Buys SS, Andrulis IL, Mulligan AM, Glendon G, John EM, Terry MB, Daly M, Odefrey FA, Nguyen-Dumont T, Giles GG, Dowty JG, Winship I, Goldgar DE, Hopper JL, Southey MC.
    • Br J Cancer. 2013 Jul 9;109(1):154-63. doi: 10.1038/bjc.2013.295. Epub 2013 Jun 20.
    • Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK.
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    • Clin Genet. 2013 Jul;84(1):37-42. doi: 10.1111/cge.12035. Epub 2012 Nov 20.
    • Association of BRCA1 promoter methylation with rs11655505 (c.2265C>T) variants and decreased gene expression in sporadic breast cancer.
    • Hasan TN, Leena Grace B, Shafi G, Syed R.
    • Clin Transl Oncol. 2013 Jul;15(7):555-62. doi: 10.1007/s12094-012-0968-y. Epub 2012 Dec 21.
    • BRCA1 polymorphisms and breast cancer epidemiology in the Western New York exposures and breast cancer (WEB) study.
    • Ricks-Santi LJ, Nie J, Marian C, Ochs-Balcom HM, Trevisan M, Edge SB, Freudenheim JL, Shields PG.
    • Genet Epidemiol. 2013 Jul;37(5):504-11. doi: 10.1002/gepi.21730. Epub 2013 May 14.
    • Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest.
    • Nizialek EA, Peterson C, Mester JL, Downes-Kelly E, Eng C.
    • Hum Mol Genet. 2013 Jun 15;22(12):2451-61. doi: 10.1093/hmg/ddt097. Epub 2013 Feb 27.
    • 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.
    • Breast Cancer Res Treat. 2013 Jun;139(2):597-602. doi: 10.1007/s10549-013-2538-6. Epub 2013 Apr 27.
    • 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?

    • Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer.
    • Bowman-Colin C, Xia B, Bunting S, Klijn C, Drost R, Bouwman P, Fineman L, Chen X, Culhane AC, Cai H, Rodig SJ, Bronson RT, Jonkers J, Nussenzweig A, Kanellopoulou C, Livingston DM.
    • Proc Natl Acad Sci U S A. 2013 May 21;110(21):8632-7. doi: 10.1073/pnas.1305362110. Epub 2013 May 8.
    • Large Genomic Rearrangements in BRCA1 and BRCA2: Implications for Patient Care.
    • Mahon SM.
    • Oncol Nurs Forum. 2013 May 1;40(3):220-2. doi: 10.1188/13.ONF.220-222.

    Related:

    Free Medscape-style version: Large Genomic Rearrangements in BRCA1 and BRCA2: Implications for Patient Care. (Medscape)

    • 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.
    • Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.
    • Wark L, Novak D, Sabbaghian N, Amrein L, Jangamreddy JR, Cheang M, Pouchet C, Aloyz R, Foulkes WD, Mai S, Tischkowitz M.
    • Genes Chromosomes Cancer. 2013 May;52(5):480-94. doi: 10.1002/gcc.22045. Epub 2013 Jan 23.
    • Involvement of IGF-1R regulation by miR-515-5p modifies breast cancer risk among BRCA1 carriers.
    • Gilam A, Edry L, Mamluk-Morag E, Bar-Ilan D, Avivi C, Golan D, Laitman Y, Barshack I, Friedman E, Shomron N.
    • Breast Cancer Res Treat. 2013 Apr;138(3):753-60. doi: 10.1007/s10549-013-2502-5. Epub 2013 Apr 3.
    • RAD51 genotype and triple-negative breast cancer (TNBC) risk in Polish women.
    • Smolarz B, Zadrożny M, Duda-Szymańska J, Makowska M, Samulak D, Michalska MM, Mojs E, Bryś M, Forma E, Romanowicz-Makowska H.
    • Pol J Pathol. 2013 Apr;64(1):39-43.
    • 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.
    • Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients.
    • Hagag E, Shwaireb M, Coffa J, El Wakil A.
    • East Mediterr Health J. 2013 Mar;19(3):255-62.
    • 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
    • Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk.
    • Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A, Investigators K, Radice P, Schmutzler RK; SWE-BRCA, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer Genetics Network, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Ewart Toland A, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON; EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ; GEMO Study Collaborators, Złowocka-Perłowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A; BCFR, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC; CIMBA.
    • PLoS Genet. 2013 Mar;9(3):e1003212. doi: 10.1371/journal.pgen.1003212. Epub 2013 Mar 27.
    • Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors.
    • Nickels S, Truong T, Hein R, Stevens K, Buck K, Behrens S, Eilber U, Schmidt M, Häberle L, Vrieling A, Gaudet M, Figueroa J, Schoof N, Spurdle AB, Rudolph A, Fasching PA, Hopper JL, Makalic E, Schmidt DF, Southey MC, Beckmann MW, Ekici AB, Fletcher O, Gibson L, Dos Santos Silva I, Peto J, Humphreys MK, Wang J, Cordina-Duverger E, Menegaux F, Nordestgaard BG, Bojesen SE, Lanng C, Anton-Culver H, Ziogas A, Bernstein L, Clarke CA, Brenner H, Müller H, Arndt V, Stegmaier C, Brauch H, Brüning T, Harth V, The Genica Network, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Kconfab, Group AM, Lambrechts D, Smeets D, Neven P, Paridaens R, Flesch-Janys D, Obi N, Wang-Gohrke S, Couch FJ, Olson JE, Vachon CM, Giles GG, Severi G, Baglietto L, Offit K, John EM, Miron A, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Chanock SJ, Lissowska J, Liu J, Cox A, Cramp H, Connley D, Balasubramanian S, Dunning AM, Shah M, Trentham-Dietz A, Newcomb P, Titus L, Egan K, Cahoon EK, Rajaraman P, Sigurdson AJ, Doody MM, Guénel P, Pharoah PD, Schmidt MK, Hall P, Easton DF, Garcia-Closas M, Milne RL, Chang-Claude J.
    • PLoS Genet. 2013 Mar;9(3):e1003284. doi: 10.1371/journal.pgen.1003284. Epub 2013 Mar 27.
    • Methylation of BRCA1 promoter region is associated with unfavorable prognosis in women with early-stage breast cancer.
    • Hsu NC, Huang YF, Yokoyama KK, Chu PY, Chen FM, Hou MF.
    • PLoS One. 2013;8(2):e56256. doi: 10.1371/journal.pone.0056256. Epub 2013 Feb 6.
    • Lack of association between a functional variant of the BRCA-1 related associated protein (BRAP) gene and ischemic stroke.
    • Liao YC, Lin HF, Guo YC, Chen CH, Huang ZZ, Juo SH, Lin RT.
    • BMC Med Genet. 2013 Jan 28;14:17. doi: 10.1186/1471-2350-14-17.
    • 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.
    • Paget disease of the breast with invasion from nipple skin into the dermis: an unusual type of skin invasion not associated with an adverse outcome.
    • Sanders MA, Dominici L, Denison C, Golshan M, Wiecorek T, Lester SC.
    • Arch Pathol Lab Med. 2013 Jan;137(1):72-6. doi: 10.5858/arpa.2011-0611-OA.
    • 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.

    • Association between BRIP1 (BACH1) polymorphisms and breast cancer risk: a meta-analysis.
    • Pabalan N, Jarjanazi H, Ozcelik H.
    • Breast Cancer Res Treat. 2013 Jan;137(2):553-8. doi: 10.1007/s10549-012-2364-2. Epub 2012 Dec 6.
    • Meta-Analysis

    Related:

    Editorial/Comment:

    Note of clarification of data in the paper entitled association between BRIP1 (BACH1) polymorphisms and breast cancer risk.

    • RAD51 polymorphisms and breast cancer risk.
    • Hosseini M, Houshmand M, Ebrahimi A.
    • Mol Biol Rep. 2013 Jan;40(1):665-8. doi: 10.1007/s11033-012-2105-y. Epub 2012 Oct 13.
    • A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
    • Chung S, Low SK, Zembutsu H, Takahashi A, Kubo M, Sasa M, Nakamura Y.
    • Breast Cancer Res. 2013;15(5):R81.
    • Association of CYP2D6 metabolizer status with mammographic density change in response to tamoxifen treatment.
    • Li J, Czene K, Brauch H, Schroth W, Saladores P, Li Y, Humphreys K, Hall P.
    • Breast Cancer Res. 2013;15(5):R93.
    • Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing.
    • Jane E. Churpek, Tom Walsh, Yonglan Zheng, Silvia Casadei, Anne M. Thornton, Ming K. Lee, Matthew Churpek, Dezheng Huo, Cecilia Zvosec, Fang Liu, Qun Niu, Jing Zhang, James Fackenthal, Mary-Claire King, Olufunmilayo I. Olopade.
    • J Clin Oncol. 2013;31(Suppl): abstr CRA1501. 2013 ASCO Annual Meeting.
    • Conference abstract
    • 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.
    • 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.
    • Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.
    • Kast K, Neuhann TM, Görgens H, Becker K, Keller K, Klink B, Aust D, Distler W, Schröck E, Schackert HK.
    • BMC Cancer. 2012 Nov 20;12:531. doi: 10.1186/1471-2407-12-531.
    • Clinical significance of large rearrangements in BRCA1 and BRCA2.
    • Judkins T, Rosenthal E, Arnell C, Burbidge LA, Geary W, Barrus T, Schoenberger J, Trost J, Wenstrup RJ, Roa BB.
    • Cancer. 2012 Nov 1;118(21):5210-6. doi: 10.1002/cncr.27556. Epub 2012 Apr 27.
    • 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.
    • BRCA1 epigenetic inactivation predicts sensitivity to platinum-based chemotherapy in breast and ovarian cancer.
    • Stefansson OA, Villanueva A, Vidal A, Martí L, Esteller M.
    • Epigenetics. 2012 Nov;7(11):1225-9. doi: 10.4161/epi.22561. Epub 2012 Oct 15.
    • De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.
    • Cirillo E, Romano R, Romano A, Giardino G, Durandy A, Nitsch L, Genesio R, Di Gregorio E, Cavalieri S, Abate G, Del Vecchio L, Brusco A, Pignata C.
    • Am J Med Genet A. 2012 Oct;158A(10):2571-6. doi: 10.1002/ajmg.a.35556. Epub 2012 Aug 17.
    • Case Report
    • Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma.
    • Xu L, Doan PC, Wei Q, Li G, Sturgis EM.
    • Oral Oncol. 2012 Sep;48(9):842-7. doi: 10.1016/j.oraloncology.2012.03.012. Epub 2012 Apr 12.
    • BRCA1 promoter methylation status does not predict response to tamoxifen in sporadic breast cancer patients.
    • Cerne JZ, Zong L, Jelinek J, Hilsenbeck SG, Wang T, Oesterreich S, McGuire SE.
    • Breast Cancer Res Treat. 2012 Aug;135(1):135-43. doi: 10.1007/s10549-012-2117-2. Epub 2012 Jun 16.
    • Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
    • Heidemann S, Fischer C, Engel C, Fischer B, Harder L, Schlegelberger B, Niederacher D, Goecke TO, Doelken SC, Dikow N, Jonat W, Morlot S, Schmutzler RC, Arnold NK.
    • Breast Cancer Res Treat. 2012 Aug;134(3):1229-39. doi: 10.1007/s10549-012-2050-4. Epub 2012 Apr 26.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 and PALB2 mutation

    Subject: BRCA1 and BRCA2 mutation carriers?

    • BRCA2 variants and cardiovascular disease in a multi-ethnic study.
    • Zbuk K, Xie C, Young R, Heydarpour M, Pare G, Davis AD, Miller R, Lanktree MB, Saleheen D, Danesh J, Yusuf S, Engert JC, Hegele RA, Anand SS.
    • BMC Med Genet. 2012 Jul 18;13:56. doi: 10.1186/1471-2350-13-56.
    • 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.
    • Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
    • Silva AG, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, de Nóbrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC.
    • BMC Cancer. 2012 Jun 12;12:237. doi: 10.1186/1471-2407-12-237.
    • Prospective evaluation of the drug-metabolizing enzyme polymorphisms and toxicity profile of docetaxel in Korean patients with operable lymph node-positive breast cancer receiving adjuvant chemotherapy.
    • Kim KP, Ahn JH, Kim SB, Jung KH, Yoon DH, Lee JS, Ahn SH.
    • Cancer Chemother Pharmacol. 2012 May;69(5):1221-7. doi: 10.1007/s00280-011-1816-4. Epub 2012 Jan 20.

    Related:

    Comment:

    Highlights from the latest articles in breast cancer pharmacogenomics.

    • Association between ATM polymorphisms and cancer risk: a meta-analysis.
    • Shen L, Yin ZH, Wan Y, Zhang Y, Li K, Zhou BS.
    • Mol Biol Rep. 2012 May;39(5):5719-25. doi: 10.1007/s11033-011-1381-2. Epub 2011 Dec 28.
    • Meta-Analysis
    • 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
    • Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.
    • Maia AT, Antoniou AC, O'Reilly M, Samarajiwa S, Dunning M, Kartsonaki C, Chin SF, Curtis CN, McGuffog L, Domchek SM; EMBRACE, Easton DF, Peock S, Frost D, Evans DG, Eeles R, Izatt L, Adlard J, Eccles D; GEMO Study Collaborators, Sinilnikova OM, Mazoyer S, Stoppa-Lyonnet D, Gauthier-Villars M, Faivre L, Venat-Bouvet L, Delnatte C, Nevanlinna H, Couch FJ, Godwin AK, Caligo MA; SWE-BRCA, Barkardottir RB; kConFab Investigators, Chen X, Beesley J, Healey S, Caldas C, Chenevix-Trench G, Ponder BA.
    • Breast Cancer Res. 2012 Apr 18;14(2):R63.
    • 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.
    • Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers.
    • Barnes DR, Antoniou AC.
    • J Intern Med. 2012 Apr;271(4):331-43. doi: 10.1111/j.1365-2796.2011.02502.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.
    • CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the breast international group 1-98 trial.
    • Regan MM, Leyland-Jones B, Bouzyk M, Pagani O, Tang W, Kammler R, Dell'orto P, Biasi MO, Thürlimann B, Lyng MB, Ditzel HJ, Neven P, Debled M, Maibach R, Price KN, Gelber RD, Coates AS, Goldhirsch A, Rae JM, Viale G; Breast International Group (BIG) 1-98 Collaborative Group.
    • J Natl Cancer Inst. 2012 Mar 21;104(6):441-51. doi: 10.1093/jnci/djs125. Epub 2012 Mar 6.

    Related:

    See PubMed abstract for multiple related items.

    Related:

    Press: CYP2D6 Genotype Not Predictive of Tamoxifen Effectiveness. (Medscape)

    Press: Studies show that CYP2D6 genotype does not predict tamoxifen benefit. (EurekAlert!)

    • CYP2D6 and UGT2B7 genotype and risk of recurrence in tamoxifen-treated breast cancer patients.
    • Rae JM, Drury S, Hayes DF, Stearns V, Thibert JN, Haynes BP, Salter J, Sestak I, Cuzick J, Dowsett M; ATAC trialists.
    • J Natl Cancer Inst. 2012 Mar 21;104(6):452-60. doi: 10.1093/jnci/djs126. Epub 2012 Mar 6.

    Related:

    See PubMed abstract for multiple related items.

    Related:

    Press: CYP2D6 Genotype Not Predictive of Tamoxifen Effectiveness. (Medscape)

    Press: Studies show that CYP2D6 genotype does not predict tamoxifen benefit. (EurekAlert!)

    • Mammographic breast density and breast cancer: evidence of a shared genetic basis.
    • Varghese JS, Thompson DJ, Michailidou K, Lindström S, Turnbull C, Brown J, Leyland J, Warren RM, Luben RN, Loos RJ, Wareham NJ, Rommens J, Paterson AD, Martin LJ, Vachon CM, Scott CG, Atkinson EJ, Couch FJ, Apicella C, Southey MC, Stone J, Li J, Eriksson L, Czene K, Boyd NF, Hall P, Hopper JL, Tamimi RM; MODE Consortium, Rahman N, Easton DF.
    • Cancer Res. 2012 Mar 15;72(6):1478-84. doi: 10.1158/0008-5472.CAN-11-3295. Epub 2012 Jan 19.
    • Effect of CYP2D6 polymorphisms on breast cancer recurrence.
    • Morrow PK, Serna R, Broglio K, Pusztai L, Nikoloff DM, Hillman GR, Fontecha M, Li R, Michaud L, Hortobagyi G, Gonzalez-Angulo AM.
    • Cancer. 2012 Mar 1;118(5):1221-7. doi: 10.1002/cncr.26407. Epub 2011 Aug 5.
    • 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.
    • Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
    • Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Lee A, Barrowdale D, Healey S, Sinilnikova OM, Caligo MA, Loman N, Harbst K, Lindblom A, Arver B, Rosenquist R, Karlsson P, Nathanson K, Domchek S, Rebbeck T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowowcka-Perłowska E, Osorio A, Durán M, Andrés R, Benítez J, Hamann U, Hogervorst FB, van Os TA, Verhoef S, Meijers-Heijboer HE, Wijnen J, Gómez Garcia EB, Ligtenberg MJ, Kriege M, Collée JM, Ausems MG, Oosterwijk JC, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Rogers MT, Donaldson A, Dorkins H, Godwin AK, Bove B, Stoppa-Lyonnet D, Houdayer C, Buecher B, de Pauw A, Mazoyer S, Calender A, Léoné M, Bressac-de Paillerets B, Caron O, Sobol H, Frenay M, Prieur F, Ferrer SU, Mortemousque I, Buys S, Daly M, Miron A, Terry MU, Hopper JL, John EM, Southey M, Goldgar D, Singer CF, Fink-Retter A, Tea MK, Kaulich DU, Hansen TV, Nielsen FC, Barkardottir RB, Gaudet M, Kirchhoff T, Joseph V, Dutra-Clarke A, Offit K, Piedmonte M, Kirk J, Cohn D, Hurteau J, Byron J, Fiorica J, Toland AE, Montagna M, Oliani C, Imyanitov E, Isaacs C, Tihomirova L, Blanco I, Lazaro C, Teulé A, Valle JD, Gayther SA, Odunsi K, Gross J, Karlan BY, Olah E, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EU, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Muranen TA, Lespérance B, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Loud JT, Andrulis IL, Ozcelik H, Mulligan AU, Glendon G, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Chenevix-Trench G, Couch FJ, Simard J, Easton DF; CIMBA, SWE-BRCA; HEBON; EMBRACE; GEMO Collaborators Study; kConFab Investigators.
    • Breast Cancer Res. 2012 Feb 20;14(1):R33.
    • 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.
    • Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
    • Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Díez O, Carracedo A, Caldés T, Vega A.
    • Breast Cancer Res Treat. 2012 Feb;132(1):307-15. doi: 10.1007/s10549-011-1842-2. Epub 2011 Nov 4.
    • FGFR2 genotype and risk of radiation-associated breast cancer in Hodgkin lymphoma.
    • Ma YP, van Leeuwen FE, Cooke R, Broeks A, Enciso-Mora V, Olver B, Lloyd A, Broderick P, Russell NS, Janus C, Ashworth A, Houlston RS, Swerdlow AJ.
    • Blood. 2012 Jan 26;119(4):1029-31. doi: 10.1182/blood-2011-10-383380. Epub 2011 Dec 5.
    • Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.
    • Byrd PJ, Srinivasan V, Last JI, Smith A, Biggs P, Carney EF, Exley A, Abson C, Stewart GS, Izatt L, Taylor AM.
    • Br J Cancer. 2012 Jan 17;106(2):262-8. doi: 10.1038/bjc.2011.534. Epub 2011 Dec 6.
    • Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients.
    • Noh JM, Choi DH, Nam SJ, Lee JE, Kim JW, Kim SW, Kang E, Lee MH, Ahn SH, Kim KS, Park SK, Haffty BG; Korea Breast Cancer Study Group.
    • Breast Cancer Res Treat. 2012 Jan;131(1):217-22. doi: 10.1007/s10549-011-1718-5. Epub 2011 Aug 17.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 and BRCA2 mutation carriers?

    • The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.
    • Cote S, Arcand SL, Royer R, Nolet S, Mes-Masson AM, Ghadirian P, Foulkes WD, Tischkowitz M, Narod SA, Provencher D, Tonin PN.
    • Breast Cancer Res Treat. 2012 Jan;131(1):333-40. doi: 10.1007/s10549-011-1796-4. Epub 2011 Sep 27.
    • Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.
    • Thompson ER, Boyle SE, Johnson J, Ryland GL, Sawyer S, Choong DY, Kconfab, Chenevix-Trench G, Trainer AH, Lindeman GJ, Mitchell G, James PA, Campbell IG.
    • Hum Mutat. 2012 Jan;33(1):95-9. doi: 10.1002/humu.21625. Epub 2011 Nov 4.
    • The CHEK2 I157T variant and breast cancer susceptibility: a systematic review and meta-analysis.
    • Liu C, Wang Y, Wang QS, Wang YJ.
    • Asian Pac J Cancer Prev. 2012;13(4):1355-60.
    • CHEK2 gene alterations independently increase the risk of death from breast cancer in Bulgarian patients.
    • Angelova SG, Krasteva ME, Gospodinova ZI, Georgieva EI.
    • Neoplasma. 2012;59(6):622-30. doi: 10.4149/neo_2012_079.