General / Overall Risk ~ Breast Cancer — Risk / Phenotype

List was last updated on Nov 30, 2019 @ 4:18 pm.


    • BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
    • Lee A, Moon BI, Kim TH.
    • Ann Lab Med. 2020 Mar;40(2):114-121. doi: 10.3343/alm.2020.40.2.114.
    • Review

    Introductory article:

    From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

    • Response to Olaparib in a Patient with Germline BRCA2 Mutation and Breast Cancer Leptomeningeal Carcinomatosis.
    • Exman P, Mallery RM, Lin NU, Parsons HA.
    • NPJ Breast Cancer. 2019 Nov 29;5:46. doi: 10.1038/s41523-019-0139-1. eCollection 2019.
    • Identification of a novel germline BRCA2 variant in a Chinese breast cancer family.
    • Cheng J, Peng J, Fu J, Khan MA, Tan P, Wei C, Deng X, Chen H, Fu J.
    • J Cell Mol Med. 2019 Nov 28. doi: 10.1111/jcmm.14861. [Epub ahead of print]
    • Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
    • Ruiz de Sabando A, Urrutia Lafuente E, García-Amigot F, Alonso Sánchez A, Morales Garofalo L, Moreno S, Ardanaz E, Ramos-Arroyo MA.
    • BMC Cancer. 2019 Nov 27;19(1):1145. doi: 10.1186/s12885-019-6277-x.
    • Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.
    • Wu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Breast Cancer Res Treat. 2019 Nov 25. doi: 10.1007/s10549-019-05483-7. [Epub ahead of print]
    • Risk-Adapted Starting Age of Screening for Relatives of Patients With Breast Cancer.
    • Mukama T, Kharazmi E, Xing X, Sundquist K, Sundquist J, Brenner H, Fallah M.
    • JAMA Oncol. 2019 Nov 14. doi: 10.1001/jamaoncol.2019.3876. [Epub ahead of print]

    Editorial:

    Toward Risk-Stratified Breast Cancer Screening: Considerations for Changes in Screening Guidelines.

    • Prophylactic breast irradiation reduces background parenchymal enhancement (BPE) on MRI: A secondary analysis.
    • Ben-David MA, Corn BW, Evron E, Goldberg H, Pfeffer RM, Abdah-Bortnyak R, Matceyevsky D, Weinstein Y, Golan O, Sklair-Levy M.
    • Breast. 2019 Nov 6;49:70-73. doi: 10.1016/j.breast.2019.10.011. [Epub ahead of print]
    • Breast cancer surveillance for BRCA1/2 mutation carriers - is "early detection" early enough?
    • Bernstein-Molho R, Kaufman B, Ben David MA, Sklair-Levy M, Feldman DM, Zippel D, Laitman Y, Friedman E.
    • Breast. 2019 Nov 6;49:81-86. doi: 10.1016/j.breast.2019.10.012. [Epub ahead of print]
    • Identification of Mutation in Exon11 of BRCA1 Gene in Bangladeshi Patients with Breast Cancer.
    • Nishat L, Yesmin ZA, Arjuman F, Rahman SHZ, Banu LA.
    • Asian Pac J Cancer Prev. 2019 Nov 1;20(11):3515-3519. doi: 10.31557/APJCP.2019.20.11.3515.
    • The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.
    • Arason A, Agnarsson BA, Johannesdottir G, Johannsson OT, Hilmarsdottir B, Reynisdottir I, Barkardottir RB.
    • Genes (Basel). 2019 Nov 1;10(11). pii: E882. doi: 10.3390/genes10110882.
    • The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
    • Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM; ABCTB Investigators, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA; GEMO Study Collaborators, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD 3rd, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN; KConFab, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P.
    • NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019.
    • Outcomes of women at high familial risk for breast cancer: An 8-year single-center experience.
    • Lammert J, Skandarajah AR, Shackleton K, Calder P, Thomas S, Lindeman GJ, Mann GB.
    • Asia Pac J Clin Oncol. 2019 Oct 28. doi: 10.1111/ajco.13274. [Epub ahead of print]
    • Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients.
    • Cecener G, Takanlou LS, Takanlou MS, Egeli U, Eskiler GG, Aksoy S, Unal U, Tezcan H, Eryilmaz IE, Gokgoz MS, Tunca B, Cubukcu E, Evrensel T, Cetintas S, Tasdelen I.
    • Cancer Genet. 2019 Oct 16;240:23-32. doi: 10.1016/j.cancergen.2019.10.004. [Epub ahead of print]
    • Interval Breast Cancer Risk Associations with Breast Density, Family History, and Breast Tissue Ageing.
    • Nguyen TL, Li S, Dite GS, Aung YK, Evans CF, Trinh HN, Baglietto L, Stone J, Song YM, Sung J, English DR, Jenkins MA, Dugué PA, Milne RL, Southey MC, Giles GG, Pike MC, Hopper JL.
    • Int J Cancer. 2019 Oct 14. doi: 10.1002/ijc.32731. [Epub ahead of print]
    • Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome.
    • Breit C, Ablah E, Ward M, Okut H, Tenofsky PL.
    • Am J Surg. 2019 Oct 11. pii: S0002-9610(19)30840-2. doi: 10.1016/j.amjsurg.2019.10.015. [Epub ahead of print]
    • Salivary Gland Function, Antioxidant Defence and Oxidative Damage in the Saliva of Patients with Breast Cancer: Does the BRCA1 Mutation Disturb the Salivary Redox Profile?
    • Sawczuk B, Maciejczyk M, Sawczuk-Siemieniuk M, Posmyk R, Zalewska A, Car H.
    • Cancers (Basel). 2019 Oct 8;11(10). pii: E1501. doi: 10.3390/cancers11101501.
    • A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
    • Rodrigue A, Margaillan G, Torres Gomes T, Coulombe Y, Montalban G, da Costa E Silva Carvalho S, Milano L, Ducy M, De-Gregoriis G, Dellaire G, Araújo da Silva W Jr, Monteiro AN, Carvalho MA, Simard J, Masson JY.
    • Nucleic Acids Res. 2019 Oct 5. pii: gkz780. doi: 10.1093/nar/gkz780. [Epub ahead of print]
    • Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis.
    • Slavin TP, Sun CL, Chavarri-Guerra Y, Sedrak MS, Katheria V, Castillo D, Herzog J, Dale W, Hurria A, Weitzel JN.
    • J Geriatr Oncol. 2019 Sep 28. pii: S1879-4068(19)30174-2. doi: 10.1016/j.jgo.2019.09.004. [Epub ahead of print]
    • Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets.
    • Duzkale N, Eyerci N, Oksuzoglu B, Teker T, Kandemir O.
    • Eur J Med Genet. 2019 Sep 26:103771. doi: 10.1016/j.ejmg.2019.103771. [Epub ahead of print]
    • Case report
    • Breast Cancer Screening in High-Risk Men: A 12-Year Longitudinal Observational Study of Male Breast Imaging Utilization and Outcomes.
    • Gao Y, Goldberg JE, Young TK, Babb JS, Moy L, Heller SL.
    • Radiology. 2019 Sep 17:190971. doi: 10.1148/radiol.2019190971. [Epub ahead of print]

    Press: Men at High Risk for Breast Cancer May Benefit From Screening. (Medscape Oncology)

    • Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China.
    • Deng M, Chen HH, Zhu X, Luo M, Zhang K, Xu CJ, Hu KM, Cheng P, Zhou JJ, Zheng S, Chen YD.
    • Int J Cancer. 2019 Sep 15;145(6):1517-1528. doi: 10.1002/ijc.32184. Epub 2019 Feb 22.
    • Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.
    • Rashid MU, Muhammad N, Naeemi H, Khan FA, Hassan M, Faisal S, Gull S, Amin A, Loya A, Hamann U.
    • Hered Cancer Clin Pract. 2019 Sep 11;17:27. doi: 10.1186/s13053-019-0125-5. eCollection 2019.
    • Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.
    • Evans DGR, Kallionpää RA, Clementi M, Trevisson E, Mautner VF, Howell SJ, Lewis L, Zehou O, Peltonen S, Brunello A1, Harkness EF, Wolkenstein P, Peltonen J.
    • Genet Med. 2019 Sep 9. doi: 10.1038/s41436-019-0651-6. [Epub ahead of print]
    • Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification.
    • Papamentzelopoulou M, Apostolou P, Fostira F, Dimitrakakis C, Loutradis D, Fountzilas G, Yannoukakos D, Konstantopoulou I.
    • Cancer Genet. 2019 Sep;237:90-96. doi: 10.1016/j.cancergen.2019.06.006. Epub 2019 Jun 12.
    • Risk factors for triple negative breast cancer among Latina women.
    • Rey-Vargas L, Sanabria Salas MC, Fejerman L, Serrano-Gómez SJ.
    • Cancer Epidemiol Biomarkers Prev. 2019 Aug 27. pii: cebp.0035.2019. doi: 10.1158/1055-9965.EPI-19-0035. [Epub ahead of print]
    • The NCCN Criterion "Young Age at Onset" Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population.
    • Ebrahimi E, Sellars E, Shirkoohi R, Harirchi I, Ghiasvand R, Mohebbi E, Zendehdel K, Akbari MR.
    • Cancer Prev Res (Phila). 2019 Aug 26. pii: canprevres.0056.2019. doi: 10.1158/1940-6207.CAPR-19-0056. [Epub ahead of print]
    • A novel BRCA1 germline mutation promotes triple-negative breast cancer cells progression and enhances sensitivity to DNA damage agents.
    • Xu K, Shi Y, Wang X, Chen Y, Tang L, Guan X.
    • Cancer Genet. 2019 Aug 23;239:26-32. doi: 10.1016/j.cancergen.2019.08.004. [Epub ahead of print]
    • DNA Damage and Hormone Related Cancer: a repair pathway view.
    • Pooley KA, Dunning AM.
    • Hum Mol Genet. 2019 Aug 22. pii: ddz206. doi: 10.1093/hmg/ddz206. [Epub ahead of print]
    • Review
    • Relationship Between Hereditary Cancer Syndromes and Oncotype DX Recurrence Score.
    • Casasanta N, Kipnis ST, Linville L, Lipinski S, Knoedler A, Marino A, McHenry A, Biagi T, Stark E, Amdur R, Denduluri N, Rodriguez P, Isaacs C, Kaltman R.
    • Clin Breast Cancer. 2019 Aug 21. pii: S1526-8209(19)30646-9. doi: 10.1016/j.clbc.2019.07.004. [Epub ahead of print]
    • Germline mutation in DNA-repair genes is associated with poor survival in BRCA1/2-negative breast cancer patients.
    • Fan Z, Hu L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Cancer Sci. 2019 Aug 20. doi: 10.1111/cas.14175. [Epub ahead of print]
    • Allelic modification of breast cancer risk in women with an NBN mutation.
    • Rusak B, Kluźniak W, Wokołorczyk D, Stempa K, Kashyap A, Rudnicka H, Gronwald J, Huzarski T, Dębniak T, Jakubowska A, Szwiec M, Akbari MR, Narod SA, Lubiński J, Cybulski C; Polish Hereditary Breast Cancer Consortium.
    • Breast Cancer Res Treat. 2019 Aug 13. doi: 10.1007/s10549-019-05391-w. [Epub ahead of print]
    • Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
    • Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C.
    • BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0.
    • Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.
    • Al-Eitan LN, Rababa'h DM, Alghamdi MA, Khasawneh RH.
    • J Cancer. 2019 Aug 8;10(19):4647-4654. doi: 10.7150/jca.33857. eCollection 2019.
    • Functional analysis of clinical BARD1 germline variants.
    • Toh MR, Chong ST, Chan SH, Low CE, Ishak NDB, Lim JQ, Courtney E, Ngeow J.
    • Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004093. doi: 10.1101/mcs.a004093. Print 2019 Aug.
    • BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors.
    • Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC.
    • Genet Med. 2019 Aug;21(8):1708-1718. doi: 10.1038/s41436-018-0406-9. Epub 2019 Jan 15.
    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial.
    • Saadatmand S, Geuzinge HA, Rutgers EJT, Mann RM, de Roy van Zuidewijn DBW, Zonderland HM, Tollenaar RAEM, Lobbes MBI, Ausems MGEM, van 't Riet M, Hooning MJ, Mares-Engelberts I, Luiten EJT, Heijnsdijk EAM, Verhoef C, Karssemeijer N, Oosterwijk JC, Obdeijn IM, de Koning HJ, Tilanus-Linthorst MMA; FaMRIsc study group.
    • Lancet Oncol. 2019 Aug;20(8):1136-1147. doi: 10.1016/S1470-2045(19)30275-X. Epub 2019 Jun 17.

    Comment:

    Underdiagnosis is the main challenge in breast cancer screening.

    Letter, Commentary:

    MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc).

    Research news: MRI or mammograms for detecting breast cancer in families with unknown genetic mutations? (FORCE. XRAYS.)

    • Molecular characteristics of breast cancer according to clinicopathological factors.
    • Huszno J, Kolosza Z.
    • Mol Clin Oncol. 2019 Aug;11(2):192-200. doi: 10.3892/mco.2019.1869. Epub 2019 May 28.
    • The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
    • Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2019 Jul 31. doi: 10.1007/s10549-019-05379-6. [Epub ahead of print]
    • In BRCA mutation carriers breast conserving surgery may not be the best choice.
    • Trimboli RM, Schiaffino S, Sardanelli F.
    • Breast Cancer Res Treat. 2019 Jul 27. doi: 10.1007/s10549-019-05373-y. [Epub ahead of print]
    • Letter, Commentary

    Original research:

    Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China.

    • Clinical Management of Patients at Risk for Hereditary Breast Cancer with Variants of Uncertain Significance in the Era of Multigene Panel Testing.
    • Chang J, Seng S, Yoo J, Equivel P, Lum SS.
    • Ann Surg Oncol. 2019 Jul 24. doi: 10.1245/s10434-019-07595-2. [Epub ahead of print]
    • CpG promoter hypo-methylation and up-regulation of microRNA-190b in hormone receptor-positive breast cancer.
    • Frick E, Gudjonsson T, Eyfjord J, Jonasson J, Tryggvadóttir L, Stefansson O, Sigurdsson S.
    • Oncotarget. 2019 Jul 23;10(45):4664-4678. doi: 10.18632/oncotarget.27083. eCollection 2019 Jul 23.
    • Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.
    • Ademuyiwa FO, Salyer P, Ma Y, Fisher S, Colditz G, Weilbaecher K, Bierut LJ.
    • Breast Cancer Res Treat. 2019 Jul 19. doi: 10.1007/s10549-019-05359-w. [Epub ahead of print]
    • The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.
    • Hawsawi YM, Al-Numair NS, Sobahy TM, Al-Ajmi AM, Al-Harbi RM, Baghdadi MA, Oyouni AA, Alamer OM.
    • Mol Genet Genomic Med. 2019 Jul 17:e879. doi: 10.1002/mgg3.879. [Epub ahead of print]
    • Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort.
    • Zeinomar N, Phillips KA, Daly MB, Milne RL, Dite GS, MacInnis RJ, Liao Y, Kehm RD, Knight JA, Southey MC, Chung WK, Giles GG, McLachlan SA, Friedlander ML, Weideman PC, Glendon G, Nesci S; kConFab Investigators, Andrulis IL, Buys SS, John EM, Hopper JL, Terry MB.
    • Int J Cancer. 2019 Jul 15;145(2):370-379. doi: 10.1002/ijc.32112. Epub 2019 Feb 20.
    • Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
    • Rizzolo P, Zelli V, Silvestri V, Valentini V, Zanna I, Bianchi S, Masala G, Spinelli AM, Tibiletti MG, Russo A, Varesco L, Giannini G, Capalbo C, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Peterlongo P, Radice P, Palli D, Ottini L.
    • Int J Cancer. 2019 Jul 15;145(2):390-400. doi: 10.1002/ijc.32106. Epub 2019 Jan 24.
    • BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
    • Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E.
    • Int J Mol Sci. 2019 Jul 12;20(14). pii: E3442. doi: 10.3390/ijms20143442.
    • One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
    • Fostira F, Kostantopoulou I, Apostolou P, Papamentzelopoulou MS, Papadimitriou C, Faliakou E, Christodoulou C, Boukovinas I, Razis E, Tryfonopoulos D, Barbounis V, Vagena A, Vlachos IS, Kalfakakou D, Fountzilas G, Yannoukakos D.
    • J Med Genet. 2019 Jul 12. pii: jmedgenet-2019-106189. doi: 10.1136/jmedgenet-2019-106189. [Epub ahead of print]
    • A systematic review of the international prevalence of BRCA mutation in breast cancer.
    • Armstrong N, Ryder S, Forbes C, Ross J, Quek RG.
    • Clin Epidemiol. 2019 Jul 11;11:543-561. doi: 10.2147/CLEP.S206949. eCollection 2019.
    • Mammographic screening in male patients at high risk for breast cancer: is it worth it?
    • Marino MA, Gucalp A, Leithner D, Keating D, Avendano D, Bernard-Davila B, Morris EA, Pinker K, Jochelson MS.
    • Breast Cancer Res Treat. 2019 Jul 6. doi: 10.1007/s10549-019-05338-1. [Epub ahead of print]
    • New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.
    • Gervas P, Klyuch B, Denisov E, Kiselev A, Molokov A, Pisareva L, Malinovskaya E, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2019 Jul 4. doi: 10.1007/s11033-019-04928-y. [Epub ahead of print]
    • Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.
    • Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U.
    • Cancer Res Treat. 2019 Jul;51(3):992-1000. doi: 10.4143/crt.2018.356. Epub 2018 Oct 11.
    • Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.
    • Vargas E, Torres Lopez DM, de Deugd R, Gil F, Nova A, Mora L, Viaña LF, Hernandez JD, Bruges R, Hamann U.
    • Oncologist. 2019 Jul;24(7):e475-e479. doi: 10.1634/theoncologist.2018-0346. Epub 2018 Dec 12.
    • Performance measures of magnetic resonance imaging plus mammography in the High Risk Ontario Breast Screening Program.
    • Chiarelli AM, Blackmore KM, Muradali D, Done SJ, Majpruz V, Weerasinghe A, Mirea L, Eisen A, Rabeneck L, Warner E.
    • J Natl Cancer Inst. 2019 Jun 24. pii: djz079. doi: 10.1093/jnci/djz079. [Epub ahead of print]

    Editorial:

    Breast cancer screening in high-risk women: is MRI alone enough?

    • Annual versus biennial screening: diagnostic accuracy among concurrent cohorts within the Ontario Breast Screening Program.
    • Chiarelli AM, Blackmore KM, Mirea L, Done SJ, Majpruz V, Weerasinghe A, Rabeneck L, Muradali D.
    • J Natl Cancer Inst. 2019 Jun 24. pii: djz131. doi: 10.1093/jnci/djz131. [Epub ahead of print]
    • BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history.
    • Bisgin A, Boga I, Yalav O, Sonmezler O, Tug Bozdogan S.
    • Breast J. 2019 Jun 22. doi: 10.1111/tbj.13400. [Epub ahead of print]
    • Rate of BRCA mutation in patients tested under NCCN genetic testing criteria.
    • Beck AC, Yuan H, Liao J, Imperiale P, Shipley K, Erdahl LM, Sugg SL, Weigel RJ, Lizarraga IM.
    • Am J Surg. 2019 Jun 19. pii: S0002-9610(19)30247-8. doi: 10.1016/j.amjsurg.2019.06.012. [Epub ahead of print]
    • Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
    • Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E.
    • Cancer. 2019 Jun 17. doi: 10.1002/cncr.32083. [Epub ahead of print]

    Editorial:

    Genetic testing for breast cancer in the Hispanic community.

    • Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome.
    • Khincha PP, Best AF, Fraumeni JF Jr, Loud JT, Savage SA, Achatz MI.
    • Eur J Cancer. 2019 Jun 15;116:199-206. doi: 10.1016/j.ejca.2019.05.005. [Epub ahead of print]
    • Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.
    • Sagna T, Bonora E, Ouedraogo MNL, Fusco D, Zoure AA, Bisseye C, Djigma F, Kafando JG, Zongo N, Douamba Z, Obiri-Yeboah D, Turchetti D, Pietra V, Lompo OM, Ouedraogo C, Seri M, Simpore J.
    • Biomol Concepts. 2019 Jun 11;10(1):120-127. doi: 10.1515/bmc-2019-0015.
    • The Spectrum of Mutations Predisposing to Familial Breast Cancer in Poland.
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Rusak B, Stempa K, Gronwald J, Szymiczek A, Bagherzadeh M, Jakubowska A, Dębniak T, Lener M, Rudnicka H, Szwiec M, Jarkiewicz-Tretyn J, Stawicka M, Domagała P, Narod SA, Lubiński J, Akbari MR; Polish Hereditary Breast Cancer Consortium.
    • Int J Cancer. 2019 Jun 7. doi: 10.1002/ijc.32492. [Epub ahead of print]
    • Germline variants and somatic mutation signatures of breast cancer across populations of African and European ancestry in the US and Nigeria.
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    • [Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.]
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    • Klin Onkol. 2019 Summer;32(Supplementum2):36-50. doi: 10.14735/amko2019S36.
    • Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers.
    • Kotsopoulos J, Lubinski J, Lynch HT, Tung N, Armel S, Senter L, Singer CF, Fruscio R, Couch F, Weitzel JN, Karlan B, Foulkes WD, Moller P, Eisen A, Ainsworth P, Neuhausen SL, Olopade O, Sun P, Gronwald J, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Breast Cancer Res Treat. 2019 Jun;175(2):443-449. doi: 10.1007/s10549-019-05162-7. Epub 2019 Feb 12.
    • p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients.
    • Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Kho PF, James PA, Spurdle AB.
    • Cancer Genet. 2019 Jun;235-236:21-27. doi: 10.1016/j.cancergen.2019.05.002. Epub 2019 Jun 6.
    • Molecular comparison of interval and screen-detected breast cancers.
    • Cheasley D, Li N, Rowley SM, Elder K, Mann GB, Loi S, Savas P, Goode DL, Kader T, Zethoven M, Semple T, Fox SB, Pang JM, Byrne D, Devereux L, Nickson C, Procopio P, Lee G, Hughes S, Saunders H, Fujihara KM, Kuykhoven K, Connaughton J, James PA, Gorringe KL, Campbell IG.
    • J Pathol. 2019 Jun;248(2):243-252. doi: 10.1002/path.5251. Epub 2019 Mar 8.
    • Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.
    • Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ.
    • Mayo Clin Proc. 2019 Jun;94(6):1084-1098. doi: 10.1016/j.mayocp.2019.02.017.
    • Male breast cancer: Specific biological characteristics and survival in a Portuguese cohort.
    • André S, Pereira T, Silva F, Machado P, Vaz F, Aparício M, Silva GL, Pinto AE.
    • Mol Clin Oncol. 2019 Jun;10(6):644-654. doi: 10.3892/mco.2019.1841. Epub 2019 Apr 8.
    • Clinical characteristics and outcomes in elderly women with BRCA1 and BRCA2 mutations.
    • Salyer C, Kobelka C, Barrie A, Weintraub MR, Powell CB.
    • Gynecol Oncol. 2019 May 31. pii: S0090-8258(19)31261-2. doi: 10.1016/j.ygyno.2019.05.017. [Epub ahead of print]
    • Breast Density in a Contemporary Cohort of Women With Ductal Carcinoma In Situ (DCIS).
    • Gooch JC, Chun J, Kaplowitz E, Kurz E, Guth A, Lee J, Schnabel F.
    • Ann Surg Oncol. 2019 May 30. doi: 10.1245/s10434-019-07479-5. [Epub ahead of print]
    • Randomized Double-Blind Placebo-Controlled Biomarker Modulation Study of Vitamin D in Premenopausal Women at High Risk for Breast Cancer (SWOG S0812).
    • Crew KD, Anderson GL, Hershman DL, Terry MB, Tehranifar P, Lew DL, Yee M, Brown EA, Kairouz SS, Kuwajerwala N, Bevers TB, Doster JE, Zarwan C, Kruper L, Minasian L, Ford LG, Arun BK, Neuhouser ML, Goodman GE, Brown PH.
    • Cancer Prev Res (Phila). 2019 May 28. pii: canprevres.0444.2018. doi: 10.1158/1940-6207.CAPR-18-0444. [Epub ahead of print]
    • Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.
    • Al Hannan F, Keogh MB, Taha S, Al Buainain L.
    • Mol Genet Genomic Med. 2019 May 26:e771. doi: 10.1002/mgg3.771. [Epub ahead of print]
    • Breast cancer histologic subtypes show excess familial clustering.
    • Henry NL, Cannon-Albright LA.
    • Cancer. 2019 May 23. doi: 10.1002/cncr.32198. [Epub ahead of print]
    • Prevalence and Clinical Impact of TP53 Germline Mutations in Chinese Women with Breast Cancer.
    • Sheng S, Xu Y, Guo Y, Yao L, Hu L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Int J Cancer. 2019 May 21. doi: 10.1002/ijc.32424. [Epub ahead of print]
    • Aspirin Treatment Effect and Association with PIK3CA Mutation in Breast Cancer: A Biomarker Analysis.
    • Zhou Y, Simmons J, Jordan CD, Sonbol MB, Maihle N, Tang SC.
    • Clin Breast Cancer. 2019 May 18. pii: S1526-8209(19)30066-7. doi: 10.1016/j.clbc.2019.05.004. [Epub ahead of print]
    • Breast Cancer Susceptibility—Towards Individualised Risk Prediction.
    • Lakeman IMM, Schmidt MK, van Asperen CJ, Devilee P.
    • Curr Genet Med Rep. 2019 May 17. doi: 10.1007/s40142-019-00168-5. [Epub ahead of print]
    • Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X.
    • Yoshida R, Watanabe C, Yokoyama S, Inuzuka M, Yotsumoto J, Arai M, Nakamura S, the Registration Committee of the Japanese HBOC consortium.
    • Oncotarget. 2019 May 14;10(35):3276-3284. doi: 10.18632/oncotarget.26852. eCollection 2019 May 14.
    • Breast cancer risk in BRCA1/2 mutation carriers and non-carriers under prospective intensified surveillance.
    • Engel C, Fischer C, Zachariae S, Bucksch K, Rhiem K, Giesecke J, Herold N, Wappenschmidt B, Hübbel V, Maringa M, Reichstein-Gnielinski S, Hahnen E, Bartram CR, Dikow N, Schott S, Speiser D, Horn D, Fallenberg EM, Kiechle M, Quante AS, Vesper AS, Fehm T, Mundhenke C, Arnold N, Leinert E, Just W, Siebers-Renelt U, Weigel S, Gehrig A, Wöckel A, Schlegelberger B, Pertschy S, Kast K, Wimberger P, Briest S, Loeffler M, Bick U, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • Int J Cancer. 2019 May 13. doi: 10.1002/ijc.32396. [Epub ahead of print]
    • Performance of Screening Breast MRI across Women with Different Elevated Breast Cancer Risk Indications.
    • Sippo DA, Burk KS, Mercaldo SF, Rutledge GM, Edmonds C, Guan Z, Hughes KS, Lehman CD.
    • Radiology. 2019 May 7:181136. doi: 10.1148/radiol.2019181136. [Epub ahead of print]
    • Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.
    • Diop JPD, Diallo RN, Bourdon-Huguenin V, Dem A, Diouf D, Dieng MM, Ba SA, Dia Y, Ka S, Mbengue B, Thiam A, Faye O, Diop PA, Sobol H, Dieye A.
    • BMC Med Genet. 2019 May 6;20(1):73. doi: 10.1186/s12881-019-0814-y.
    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
    • Int J Cancer. 2019 May 3. doi: 10.1002/ijc.32385. [Epub ahead of print]
    • Who should get a contralateral prophylactic mastectomy for breast cancer?
    • Bedrosian I, Parker PA, Brewster AM.
    • Cancer. 2019 May 1;125(9):1400-1403. doi: 10.1002/cncr.31915. Epub 2019 Jan 15.
    • Case report, review
    • Interaction between genetic ancestry and common breast cancer susceptibility variants in Colombian women.
    • Torres D, Lorenzo Bermejo J, Garcia Mesa K, Gilbert M, Briceño I, Pohl-Zeidler S, González Silos R, Boekstegers F, Plass C, Hamann U.
    • Int J Cancer. 2019 May 1;144(9):2181-2191. doi: 10.1002/ijc.32023. Epub 2019 Jan 5.
    • Breast cancer risk associated with BRCA1/2 variants in the Pakistani population.
    • Abbas S, Siddique A, Shahid N, Khan RT, Fatima W.
    • Breast Cancer. 2019 May;26(3):365-372. doi: 10.1007/s12282-018-0932-y. Epub 2018 Nov 14.
    • Differences between screen-detected and interval breast cancers among BRCA mutation carriers.
    • Pilewskie M, Zabor EC, Gilbert E, Stempel M, Petruolo O, Mangino D, Robson M, Jochelson MS.
    • Breast Cancer Res Treat. 2019 May;175(1):141-148. doi: 10.1007/s10549-018-05123-6. Epub 2019 Jan 23.
    • High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer.
    • Bick U, Engel C, Krug B, Heindel W, Fallenberg EM, Rhiem K, Maintz D, Golatta M, Speiser D, Rjosk-Dendorfer D, Lämmer-Skarke I, Dietzel F, Schäfer KWF, Leinert E, Weigel S, Sauer S, Pertschy S, Hofmockel T, Hagert-Winkler A, Kast K, Quante A, Meindl A, Kiechle M, Loeffler M, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • Breast Cancer Res Treat. 2019 May;175(1):217-228. doi: 10.1007/s10549-019-05152-9. Epub 2019 Feb 6.
    • Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China.
    • Cao W, Xie Y, He Y, Li J, Wang T, Fan Z, Fan T, Ouyang T.
    • Breast Cancer Res Treat. 2019 Jun;175(3):749-754. doi: 10.1007/s10549-019-05199-8. Epub 2019 Mar 20.

    Letter, Commentary:

    In BRCA mutation carriers breast conserving surgery may not be the best choice.

    • The influence of reproductive factors on breast cancer risk in women with pathogenic mutations.
    • Gabriel Goidescu I, Caracostea G, Rotar IC, Eniu DT, Nemeti GI, Cruciat G, Stamatian F, Muresan D.
    • J BUON. 2019 May-Jun;24(3):1067-1074.
    • Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients.
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    • Chonnam Med J. 2019 May;55(2):99-103. doi: 10.4068/cmj.2019.55.2.99. Epub 2019 May 23.
    • Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.
    • Adaniel C, Salinas F, Donaire JM, Bravo ME, Peralta O, Paredes H, Aliaga N, Sola A, Neira P, Behnke C, Rodriguez T, Torres S, Lopez F, Hurtado C.
    • J Glob Oncol. 2019 May;(5):1-14. doi: 10.1200/JGO.18.00163.
    • Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics - the Cohort study of TP53 carrier early onset breast cancer (COPE study).
    • Packwood K, Martland G, Sommerlad M, Shaw E, Moutasim K, Thomas G, Bateman A, Jones L, Haywood L, Evans DG, Birch JM, Alsalmi OA, Henderson A, Poplawski N, Eccles DM.
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    • Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
    • Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Hauke J.
    • Breast Cancer Res. 2019 Apr 29;21(1):55. doi: 10.1186/s13058-019-1137-9.
    • The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients.
    • Chavarri-Guerra Y, Hendricks CB, Brown S, Marcum C, Hander M, Segota ZE, Hake C, Sand S, Slavin TP, Hurria A, Soto-Perez-de-Celis E, Nehoray B, Blankstein KB, Blazer KR, Weitzel JN; Clinical Cancer Genomics Community Research Network.
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    • Hyaline fibrous involution of breast lobules: a histologic finding associated with germline BRCA mutation.
    • Lee HE, Arshad M, Brahmbhatt RD, Hoskin TL, Winham SJ, Frost MH, Radisky DC, Denison LA, Degnim AC, Visscher DW.
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    • Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
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    • Five screening-detected breast cancer cases in initially disease-free BRCA1 or BRCA2 mutation carriers.
    • Shimada S, Yoshida R, Nakashima E, Kitagawa D, Gomi N, Horii R, Takeuchi S, Ashihara Y, Kita M, Akiyama F, Ohno S, Saito M, Arai M.
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    • Contribution of BRCA1 5382insC mutation in triple negative breast cancer in Tunisia.
    • Mahfoudh W, Bettaieb I, Ghedira R, Snoussi K, Bouzid N, Klayech Z, Gabbouj S, Remadi Y, Hassen E, Bouaouina N, Zakhama A.
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    • Prognostic Significance of CHEK2 Mutation in Progression of Breast Cancer.
    • Ansari N, Shahrabi S, Khosravi A, Shirzad R, Rezaeean H.
    • Lab Med. 2019 Apr 11. pii: lmz009. doi: 10.1093/labmed/lmz009. [Epub ahead of print]
    • Review
    • Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.
    • Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, Miller D, Penberthy LS, Katz SJ.
    • J Clin Oncol. 2019 Apr 9:JCO1801854. doi: 10.1200/JCO.18.01854. [Epub ahead of print]

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

    • Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer.
    • Wang X, Liu H, Maimaitiaili A, Zhao G, Li S, Lv Z, Wu D, Shi A, Guan X, Jia H, Li M, Song D, Kang L, Han B, Fu T, Yang M, Zhu Z, Du Y, Song Y, Hong J, Fan Z.
    • Mol Genet Genomic Med. 2019 Apr 9:e677. doi: 10.1002/mgg3.677. [Epub ahead of print]
    • Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
    • Shahi RB, De Brakeleer S, Caljon B, Pauwels I, Bonduelle M, Joris S, Fontaine C, Vanhoeij M, Van Dooren S, Teugels E, De Grève J.
    • BMC Cancer. 2019 Apr 4;19(1):313. doi: 10.1186/s12885-019-5494-7.
    • Identifying a BRCA2 c.5722_5723del mutation in a Han-Chinese family with breast cancer.
    • Guo Y, Wang P, Li X, Zhu S, Xu H, Li S, Deng H, Yuan L.
    • Biosci Rep. 2019 Apr 2. pii: BSR20182471. doi: 10.1042/BSR20182471. [Epub ahead of print]
    • Metachronous Contralateral Male Breast Cancer: Case Report and Literature Review.
    • O'Leary TR, Shriver CD, Wind G.
    • Mil Med. 2019 Apr 2. pii: usz049. doi: 10.1093/milmed/usz049. [Epub ahead of print]
    • Case report, Review
    • The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.
    • Klaschik K, Hauke J, Neidhardt G, Tränkle C, Surowy HM, Heilmann-Heimbach S, Rappl G, Mangold E, Arnold N, Niederacher D, Sutter C, Burwinkel B, Engel C, Wappenschmidt B, Meindl A, Ernst C, Weber-Lassalle K, Weber-Lassalle N, Schmidt S, Borde J, Schmutzler RK, Hahnen E, Pohl-Rescigno E.
    • Int J Cancer. 2019 Apr 1;144(7):1761-1763. doi: 10.1002/ijc.32016. Epub 2019 Jan 6.
    • Letter

    Letter, Reply:

    Response to: The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.

    • Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
    • Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, Leslie G, Oosterwijk JC, Chung WK, Evans DG, Engel C, Kast K, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Arun BK, Ausems MGEM, Azzollini J, Barouk-Simonet E, Barwell J, Belotti M, Benitez J, Berger A, Borg A, Bradbury AR, Brunet J, Buys SS, Caldes T, Caligo MA, Campbell I, Caputo SM, Chiquette J, Claes KBM, Margriet Collée J, Couch FJ, Coupier I, Daly MB, Davidson R, Diez O, Domchek SM, Donaldson A, Dorfling CM, Eeles R, Feliubadaló L, Foretova L, Fowler J, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Glendon G, Godwin AK, Gómez Garcia EB, Gronwald J, Hahnen E, Hamann U, Henderson A, Hendricks CB, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo Á, Jakubowska A, Kaczmarek K, Kang E, Karlan BY, Kets CM, Kim SW, Kim Z, Kwong A, Laitman Y, Lasset C, Hyuk Lee M, Won Lee J, Lee J, Lester J, Lesueur F, Loud JT, Lubinski J, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Morrison PJ, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nussbaum RL, Offit K, Olah E, Ong KR, Ottini L, Park SK, Peterlongo P, Pfeiler G, Phelan CM, Poppe B, Pradhan N, Radice P, Ramus SJ, Rantala J, Robson M, Rodriguez GC, Schmutzler RK, Hutten Selkirk CG, Shah PD, Simard J, Singer CF, Sokolowska J, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira RM, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Tucker KM, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yannoukakos D; GEMO Study Collaborators; HEBON; EMBRACE, Greene MH, Rookus MA, Easton DF, Chenevix-Trench G, Antoniou AC, Goldgar DE, Olopade OI, Rebbeck TR, Huo D.
    • J Natl Cancer Inst. 2019 Apr 1;111(4):350-364. doi: 10.1093/jnci/djy132.
    • Risk factors for metachronous contralateral breast cancer: A systematic review and meta-analysis.
    • Akdeniz D, Schmidt MK, Seynaeve CM, McCool D, Giardiello D, van den Broek AJ, Hauptmann M, Steyerberg EW, Hooning MJ.
    • Breast. 2019 Apr;44:1-14. doi: 10.1016/j.breast.2018.11.005. Epub 2018 Dec 6.
    • Review/Meta-Analysis
    • Age-specific risks of incident, contralateral and ipsilateral breast cancer among 1776 Polish BRCA1 mutation carriers.
    • Lubinski J, Huzarski T, Gronwald J, Cybulski C, Debniak T, Sun P, Kim SJ, Kotsopoulos J, Narod SA.
    • Breast Cancer Res Treat. 2019 Apr;174(3):769-774. doi: 10.1007/s10549-018-05076-w. Epub 2019 Jan 5.
    • Clinical findings and outcomes of MRI staging of breast cancer in a diverse population.
    • Raghavendra A, Wecsler J, Ji L, Sheth P, Ricker C, Church T, Sposto R, Lang J, Sener S, Larsen L, Tripathy D.
    • Breast Cancer Res Treat. 2019 Apr;174(2):315-324. doi: 10.1007/s10549-018-05084-w. Epub 2018 Dec 12.
    • Review
    • The estrogen receptor-alpha S118P variant does not affect breast cancer incidence or response to endocrine therapies.
    • Button B, Croessmann S, Chu D, Rosen DM, Zabransky DJ, Dalton WB, Cravero K, Kyker-Snowman K, Waters I, Karthikeyan S, Christenson ES, Donaldson J, Hunter T, Dennison L, Ramin C, May B, Roden R, Petry D, Armstrong DK, Visvanathan K, Park BH.
    • Breast Cancer Res Treat. 2019 Apr;174(2):401-412. doi: 10.1007/s10549-018-05087-7. Epub 2018 Dec 17.
    • TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
    • Bakhuizen JJ, Hogervorst FB, Velthuizen ME, Ruijs MW, van Engelen K, van Os TA, Gille JJ, Collée M, van den Ouweland AM, van Asperen CJ, Kets CM, Mensenkamp AR, Leter EM, Blok MJ, de Jong MM, Ausems MG.
    • Fam Cancer. 2019 Apr;18(2):273-280. doi: 10.1007/s10689-018-00118-0.
    • Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
    • Nurmi A, Muranen TA, Pelttari LM, Kiiski JI, Heikkinen T, Lehto S, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Int J Cancer. 2019 Mar 30. doi: 10.1002/ijc.32309. [Epub ahead of print]
    • Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
    • Feliubadaló L, López-Fernández A, Pineda M, Díez O, Del Valle J, Gutiérrez-Enríquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellá G, Brunet J, Lázaro C, Balmaña J; Catalan Hereditary Cancer Group.
    • Int J Cancer. 2019 Mar 29. doi: 10.1002/ijc.32304. [Epub ahead of print]
    • Plasma RANKL levels are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
    • Zaman T, Sun P, Narod SA, Salmena L, Kotsopoulos J.
    • Oncotarget. 2019 Mar 29;10(25):2475-2483. doi: 10.18632/oncotarget.26810. eCollection 2019 Mar 29.
    • Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.
    • Voelker R.
    • JAMA. 2019 Mar 20. doi: 10.1001/jama.2019.0967. [Epub ahead of print]

    Original research:

    BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

    • Effect of Background Parenchymal Enhancement on Cancer Risk Across Different High-Risk Patient Populations Undergoing Screening Breast MRI.
    • Sippo DA, Rutledge GM, Burk KS, Mercaldo SF, Dontchos BN, Edmonds CE, Lehman CD.
    • AJR Am J Roentgenol. 2019 Mar 19:1-7. doi: 10.2214/AJR.18.20566. [Epub ahead of print]
    • Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in BRCA1 Mutation Carriers.
    • Guindalini RSC, Zheng Y, Abe H, Whitaker K, Yoshimatsu TF, Walsh T, Schacht D, Kulkarni K, Sheth D, Verp MS, Bradbury AR, Churpek J, Obeid E, Mueller J, Khramtsova G, Liu F, Raoul A, Cao H, Romero IL, Hong S, Livingston R, Jaskowiak N, Wang X, Debiasi M, Pritchard CC, King MC, Karczmar G, Newstead GM, Huo D, Olopade OI.
    • Clin Cancer Res. 2019 Mar 15;25(6):1786-1794. doi: 10.1158/1078-0432.CCR-18-0200. Epub 2018 Aug 28.

    Review, Research news:

    More Is More: Semiannual Breast MRI Screening in BRCA1 Mutation Carriers.

    • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
    • Ow SGW, Ong PY, Lee SC.
    • PLoS One. 2019 Mar 15;14(3):e0213746. doi: 10.1371/journal.pone.0213746. eCollection 2019.
    • Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
    • Menkiszak J, Chudecka-Głaz A, Cymbaluk-Płoska A, Celewicz A, Kojs Z, Szajda M, Świniarska M, Bedner R, Jurczak A, Celewicz M, Cieszyńska M, Lubiński J, Gronwald J.
    • Hered Cancer Clin Pract. 2019 Mar 14;17:10. doi: 10.1186/s13053-019-0109-5. eCollection 2019.
    • Prophylactic irradiation to the contralateral breast for BRCA mutation carriers with early-stage breast cancer.
    • Evron E, Ben-David AM, Goldberg H, Fried G, Kaufman B, Catane R, Pfeffer MR, Geffen DB, Chernobelsky P, Karni T, Abdah-Bortnyak R, Rosengarten O, Matceyevsky D, Inbar M, Kuten A, Corn BW.
    • Ann Oncol. 2019 Mar 1;30(3):412-417. doi: 10.1093/annonc/mdy515.

    Editorial:

    Is bilateral radiation an option for BRCA mutation carriers with unilateral breast cancer?

    • BRCA1 represses DNA replication initiation through antagonizing estrogen signaling and maintains genome stability in parallel with WEE1-MCM2 signaling during pregnancy.
    • Xu X, Chen E, Mo L, Zhang L, Shao F, Miao K, Liu J, Su SM, Valecha M, In Chan U, Zheng H, Chen M, Chen W, Chen Q, Fu H, Aladjem MI, He Y, Deng CX.
    • Hum Mol Genet. 2019 Mar 1;28(5):842-857. doi: 10.1093/hmg/ddy398.
    • Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort.
    • Li J, Wen WX, Eklund M, Kvist A, Eriksson M, Christensen HN, Torstensson A, Bajalica-Lagercrantz S, Dunning AM, Decker B, Allen J, Luccarini C, Pooley K, Simard J, Dorling L, Easton DF, Teo SH, Hall P, Borg Å, Grönberg H, Czene K.
    • Int J Cancer. 2019 Mar 1;144(5):1195-1204. doi: 10.1002/ijc.31841. Epub 2018 Nov 9.
    • BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ.
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    • Mol Genet Genomic Med. 2019 Mar;7(3):e493. doi: 10.1002/mgg3.493. Epub 2019 Jan 16.
    • The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan.
    • Murakami W, Tozaki M, Nakamura S, Ide Y, Inuzuka M, Hirota Y, Murakami K, Takahama N, Ohgiya Y, Gokan T.
    • Breast Cancer. 2019 Feb 28. doi: 10.1007/s12282-019-00955-6. [Epub ahead of print]
    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
    • Mehemmai C, Cherbal F, Hamdi Y, Guedioura A, Benbrahim W, Bakour R, Abdelhak S.
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    • Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population.
    • Gallardo-Alvarado LN, Tusié-Luna MT, Tussié-Luna MI, Díaz-Chávez J, Segura YX, Bargallo-Rocha E, Villarreal C, Herrera-Montalvo LA, Herrera-Medina EM, Cantu-de Leon DF.
    • BMC Cancer. 2019 Feb 1;19(1):118. doi: 10.1186/s12885-019-5312-2.
    • Identifying breast cancer susceptibility genes - a review of the genetic background in familial breast cancer.
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    • Acta Oncol. 2019 Feb;58(2):135-146. doi: 10.1080/0284186X.2018.1529428. Epub 2019 Jan 3.
    • Age-related risk factors associated with primary contralateral breast cancer among younger women versus older women.
    • Yoon TI, Kwak BS, Yi OV, Kim S, Um E, Yun KW, Shin HN, Lee S, Sohn G, Chung IY, Kim J, Ko BS, Lee JW, Son BH, Ahn SH, Kim HJ.
    • Breast Cancer Res Treat. 2019 Feb;173(3):657-665. doi: 10.1007/s10549-018-5031-4. Epub 2018 Oct 30.
    • Oestrogen receptor status and survival in women with BRCA2-associated breast cancer.
    • Metcalfe K, Lynch HT, Foulkes WD, Tung N, Olopade OI, Eisen A, Lerner-Ellis J, Snyder C, Kim SJ, Sun P, Narod SA.
    • Br J Cancer. 2019 Feb;120(4):398-403. doi: 10.1038/s41416-019-0376-y. Epub 2019 Feb 6.
    • Novel pleiotropic BRCA2 pathogenic variants in Lebanese families.
    • Riyad EK, Khraibani HMJ, Emma A, Carla M, Chantal F.
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    • Case report
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    • Hanley GE, McAlpine JN, Cheifetz R, Schrader KA, McCullum M, Huntsman D.
    • Curr Oncol. 2019 Feb;26(1):e17-e23. doi: 10.3747/co.26.4068. Epub 2019 Feb 1.
    • Subtypes in BRCA-mutated breast cancer.
    • Sønderstrup IMH, Jensen MR, Ejlertsen B, Eriksen JO, Gerdes AM, Kruse TA, Larsen MJ, Thomassen M, Lænkholm AV.
    • Hum Pathol. 2019 Feb;84:192-201. doi: 10.1016/j.humpath.2018.10.005. Epub 2018 Oct 17.
    • [Hereditary predisposition to breast cancer (1): genetics].
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    • BRCA1 mutation in breast cancer patients: Analysis of prognostic factors and survival.
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    • Oncol Lett. 2019 Feb;17(2):1986-1995. doi: 10.3892/ol.2018.9770. Epub 2018 Nov 28.
    • Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift.
    • Møller P, Dominguez-Valentin M, Rødland EA, Hovig E.
    • Cancers (Basel). 2019 Jan 23;11(2). pii: E132. doi: 10.3390/cancers11020132.
    • Triple-negative breast cancer: the reality in Chile and in Latin America.
    • Caglevic C, Anabalón J, Soza C, Milla E, Gaete F, Carrasco AM, Panay S, Gallardo C, Mahave M.
    • Ecancermedicalscience. 2019 Jan 22;13:893. doi: 10.3332/ecancer.2019.893. eCollection 2019.
    • Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
    • Li JY, Jing R, Wei H, Wang M, Xiaowei Q, Liu H, Jian L, Ou JH, Jiang WH, Tian FG, Sheng Y, Li HY, Xu H, Zhang RS, Guan AH, Liu K, Jiang HC, Ren Y, He JJ, Huang W, Liao N, Cai X, Ming J, Ling R, Xu Y, Hu CY, Zhang J, Guo B, Ouyang L, Shuai P, Liu Z, Zhong L, Zeng Z, Zhang T, Xuan Z, Tan X, Liang J, Pan Q, Chen L, Zhang F, Fan LJ, Zhang Y, Yang X, BoLi J, Chen C, Jiang J.
    • Int J Cancer. 2019 Jan 15;144(2):281-289. doi: 10.1002/ijc.31601. Epub 2018 Nov 8.
    • Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer.
    • Azzollini J, Pesenti C, Pizzamiglio S, Fontana L, Guarino C, Peissel B, Plebani M, Tabano S, Sirchia SM, Colapietro P, Villa R, Paolini B, Verderio P, Miozzo M, Manoukian S.
    • Cancers (Basel). 2019 Jan 9;11(1). pii: E58. doi: 10.3390/cancers11010058.
    • Synchronous Ovarian and Breast Cancers with a Novel Variant in BRCA2 Gene: A Case Report.
    • Llinás-Quintero N, Cabrera-Florez E, Mendoza-Fandiño G, Matute-Turizo G, Vasquez-Trespalacios EM, Gallón-Villegas LJ.
    • Case Rep Oncol Med. 2019 Jan 6;2019:6958952. doi: 10.1155/2019/6958952. eCollection 2019.
    • The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans.
    • Kim H, Choi DH, Park W, Im YH, Ahn JS, Park YH, Nam SJ, Kim SW, Lee JE, Yu JH, Lee SK, Jung BY.
    • Hered Cancer Clin Pract. 2019 Jan 3;17:1. doi: 10.1186/s13053-018-0103-3. eCollection 2019.
    • Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish Population.
    • Geredeli C, Yasar N, Sakin A.
    • Int J Breast Cancer. 2019 Jan 1;2019:9645147. doi: 10.1155/2019/9645147. eCollection 2019.
    • Risk-Reducing Mastectomy in BRCA1 and BRCA2 Mutation Carriers: A Complex Discussion.
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    • Review, Commentary
    • 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

    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.

    • Relationship between Background Parenchymal Enhancement on High-risk Screening MRI and Future Breast Cancer Risk.
    • Grimm LJ, Saha A, Ghate SV, Kim C, Soo MS, Yoon SC, Mazurowski MA.
    • Acad Radiol. 2019 Jan;26(1):69-75. doi: 10.1016/j.acra.2018.03.013. Epub 2018 Mar 27.
    • Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea.
    • Ryu JM, Choi HJ, Kim I, Nam SJ, Kim SW, Yu J, Lee SK, Choi DH, Park YH, Kim JW, Seo JS, Park JH, Lee JE, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • Breast Cancer Res Treat. 2019 Jan;173(2):385-395. doi: 10.1007/s10549-018-5015-4. Epub 2018 Oct 22.
    • BRCA mutations: is everything said?
    • López-Urrutia E, Salazar-Rojas V, Brito-Elías L, Coca-González M, Silva-García J, Sánchez-Marín D, Campos-Parra AD, Pérez-Plasencia C.
    • Breast Cancer Res Treat. 2019 Jan;173(1):49-54. doi: 10.1007/s10549-018-4986-5. Epub 2018 Oct 6.
    • Review
    • The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients.
    • Bernstein-Molho R, Laitman Y, Schayek H, Iomdin S, Friedman E.
    • Cancer Causes Control. 2019 Jan;30(1):97-101. doi: 10.1007/s10552-018-1106-0. Epub 2018 Nov 30.
    • Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers.
    • Downs B, Sherman S, Cui J, Kim YC, Snyder C, Christensen M, Luo J, Lynch H, Wang SM.
    • Eur J Cancer. 2019 Jan;107:68-78. doi: 10.1016/j.ejca.2018.10.022. Epub 2018 Dec 11.
    • Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation.
    • El Tannouri R, Albuisson E, Jonveaux P, Luporsi E.
    • Fam Cancer. 2019 Jan;18(1):1-8. doi: 10.1007/s10689-018-0079-1.
    • Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk.
    • Solodskikh SA, Panevina AV, Gryaznova MV, Gureev AP, Serzhantova OV, Mikhailov AA, Maslov AY, Popov VN.
    • Mutat Res. 2019 Jan;813:51-57. doi: 10.1016/j.mrfmmm.2018.12.005. Epub 2018 Dec 29.
    • BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
    • Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB.
    • PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. [Epub ahead of print]
    • BRCA1 Mutations Associated With Increased Risk of Brain Metastases in Breast Cancer: A 1: 2 Matched-pair Analysis.
    • Zavitsanos PJ, Wazer DE, Hepel JT, Wang Y, Singh K, Leonard KL.
    • Am J Clin Oncol. 2018 Dec;41(12):1252-1256. doi: 10.1097/COC.0000000000000466.
    • High rate of occult cancer found in prophylactic mastectomy specimens despite thorough presurgical assessment with MRI and ultrasound: findings from the Hereditary Breast and Ovarian Cancer Registration 2016 in Japan.
    • Yamauchi H, Okawa M, Yokoyama S, Nakagawa C, Yoshida R, Suzuki K, Nakamura S, Arai M.
    • Breast Cancer Res Treat. 2018 Dec;172(3):679-687. doi: 10.1007/s10549-018-4953-1. Epub 2018 Sep 10.
    • Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast.
    • Felicio PS, Alemar B, Coelho AS, Berardinelli GN, Melendez ME, Lengert AVH, Miche Lli RD, Reis RM, Fernandes GC, Ewald IP, Bittar CM, Netto CBO, Artigalas O, Peixoto A, Pinheiro M, Teixeira MR, Vargas FR, Dos Santos ACE, Moreira MAM, Ashton-Prolla P, Palmero EI.
    • Cancer Genet. 2018 Dec;228-229:93-97. doi: 10.1016/j.cancergen.2018.09.001. Epub 2018 Oct 6.
    • Germline pathogenic variants identified in women with ovarian tumors.
    • Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS.
    • Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12.
    • The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations.
    • Terry MB, Liao Y, Kast K, Antoniou AC, McDonald JA, Mooij TM, Engel C, Nogues C, Buecher B, Mari V, Moretta-Serra J, Gladieff L, Luporsi E, Barrowdale D, Frost D, Henderson A, Brewer C, Evans DG, Eccles D, Cook J, Ong KR, Izatt L, Ahmed M, Morrison PJ, Dommering CJ, Oosterwijk JC, Ausems MGEM, Kriege M, Buys SS, Andrulis IL, John EM, Daly M, Friedlander M, McLachlan SA, Osorio A, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Arver B, Olsson H, Schmutzler RK, Hopper JL, van Leeuwen FE, Goldgar D, Milne RL, Easton DF, Rookus MA, Andrieu N; EMBRACE, GENEPSO, BCFR, HEBON, kConFab and IBCCS.
    • JNCI Cancer Spectr. 2018 Dec;2(4):pky078. doi: 10.1093/jncics/pky078. Epub 2019 Mar 8.
    • Breast cancer in adolescents and young adults.
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    • Review
    • Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.
    • Mehta A, Vasudevan S, Sharma SK, Kumar D, Panigrahi M, Suryavanshi M, Gupta G.
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    • Prophylactic Irradiation to the Contralateral Breast for BRCA Mutation Carriers with Early Stage Breast Cancer.
    • Evron E, Ben-David AM, Goldberg H, Fried G, Kaufman B, Catane R, Pfeffer MR, Geffen DB, Chernobelsky P, Karni T, Abdah-Bortnyak R, Rosengarten O, Matceyevsky D, Inbar M, Kuten A, Corn BW.
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    • Cancer Res. 2018 Nov 1;78(21):6329-6338. doi: 10.1158/0008-5472.CAN-18-1018.
    • The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
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    • GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
    • Lesueur F, Mebirouk N, Jiao Y, Barjhoux L, Belotti M, Laurent M, Léone M, Houdayer C, Bressac-de Paillerets B, Vaur D, Sobol H, Noguès C, Longy M, Mortemousque I, Fert-Ferrer S, Mouret-Fourme E, Pujol P, Venat-Bouvet L, Bignon YJ, Leroux D, Coupier I, Berthet P, Mari V, Delnatte C, Gesta P, Collonge-Rame MA, Giraud S, Bonadona V, Baurand A, Faivre L, Buecher B, Lasset C, Gauthier-Villars M, Damiola F, Mazoyer S, Caputo SM, Andrieu N, Stoppa-Lyonnet D; GEMO Study Collaborators.
    • Front Oncol. 2018 Oct 31;8:490. doi: 10.3389/fonc.2018.00490. eCollection 2018.
    • Association of E-selectin S128R Polymorphism with Hereditary Breast Carcinoma Susceptibility in Turkish Patients Without BRCA1/2 Germline Mutations.
    • Yararbas K, Atalay PB.
    • Balkan J Med Genet. 2018 Oct 29;21(1):27-31. doi: 10.2478/bjmg-2018-0004. eCollection 2018 Jun.
    • Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
    • Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN.
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    • Menopausal Status and Outcomes of BRCA Mutation Carriers with Breast Cancer.
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    • Inherited Breast Cancer in Nigerian Women.
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    Research News: Inherited breast cancer in Nigerian women. (FORCE XRAYS)

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    • Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
    • Quezada Urban R, Díaz Velásquez CE, Gitler R, Rojo Castillo MP, Sirota Toporek M, Figueroa Morales A, Moreno García O, García Esquivel L, Torres Mejía G, Dean M, Delgado Enciso I, Ochoa Díaz López H, Rodríguez León F, Jan V, Garzón Barrientos VH, Ruiz Flores P, Espino Silva PK, Haro Santa Cruz J, Martínez Gregorio H, Rojas Jiménez EA, Romero Cruz LE, Méndez Catalá CF, Álvarez Gómez RM, Fragoso Ontiveros V, Herrera LA, Romieu I, Terrazas LI, Chirino YI, Frecha C, Oliver J, Perdomo S, Vaca Paniagua F.
    • Cancers (Basel). 2018 Sep 27;10(10). pii: E361. doi: 10.3390/cancers10100361.
    • 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.
    • Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Heather Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 21;1(5): e182140. doi: 10.1001/jamanetworkopen.2018.2140.

    Research news: Can population-based DNA sequencing identify those at risk for hereditary cancers? (FORCE. XRAYS.)

    • Hormone therapy and breast cancer risk after ovary removal in women with a BRCA1 mutation.
    • [No author given]
    • FORCE. XRAYS. 2018 Sep 7.

    Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers.

    • Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.
    • Real-world health services utilisation and outcomes after BRCA1 and BRCA2 testing in Ontario, Canada: the What Comes Next Cohort Study protocol.
    • Dossa F, Cusimano MC, Sutradhar R, Metcalfe K, Little T, Lerner-Ellis J, Eisen A, Meschino WS, Baxter NN.
    • BMJ Open. 2018 Sep 4;8(9):e025317. doi: 10.1136/bmjopen-2018-025317.
    • Comparison of background parenchymal enhancement and fibroglandular density at breast magnetic resonance
    • Grubstein A, Rapson Y, Benzaquen O, Rozenblatt S, Gadiel I, Atar E, Yerushalmi R, Cohen MJ.
    • Clin Imaging. 2018 Sep - Oct;51:347-351. doi: 10.1016/j.clinimag.2018.06.010. Epub 2018 Jun 30.
    • Association of BRCA1 185 del AG with early age onset of breast cancer patients in selected cohort from Pakistani population.
    • Durr-E-Samin, Saif-Ur-Rehman M, Shahnawaz-Ul-Rehman M, Khan MS.
    • Pak J Med Sci. 2018 Sep-Oct;34(5):1158-1163. doi: 10.12669/pjms.345.15764.
    • 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.
    • Imaging Phenotypes in Women at High Risk for Breast Cancer on Mammography, Ultrasound, and Magnetic Resonance Imaging Using the Fifth Edition of the Breast Imaging Reporting and Data System.
    • Marino MA, Riedl CC, Bernathova M, Bernhart C, A T Baltzer P, Helbich TH, Pinker K.
    • Eur J Radiol. 2018 Sep;106:150-159. doi: 10.1016/j.ejrad.2018.07.026. Epub 2018 Jul 30.
    • Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations.
    • Zhu X, Tian T, Ruan M, Rao J, Yang W, Cai X, Sun M, Qin G, Zhao Z, Wu J, Shao Z, Shui R, Hu Z.
    • J Breast Cancer. 2018 Sep;21(3):297-305. doi: 10.4048/jbc.2018.21.e38. Epub 2018 Sep 12.
    • Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations.
    • Zhu X, Tian T, Ruan M, Rao J, Yang W, Cai X, Sun M, Qin G, Zhao Z, Wu J, Shao Z, Shui R, Hu Z.
    • J Breast Cancer. 2018 Sep;21(3):297-305. doi: 10.4048/jbc.2018.21.e38. Epub 2018 Sep 12.
    • The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer.
    • Li S, Ma J, Hu C, Zhang X, Xiao D, Hao L, Xia W, Yang J, Hu L, Liu X, Dong M, Ma D, Liu R.
    • J Breast Cancer. 2018 Sep;21(3):330-333. doi: 10.4048/jbc.2018.21.e33. Epub 2018 Aug 28.
    • A new pathogenic mutation of the BRCA1 gene in a patient with ovarian cancer: A case report.
    • Yizhen N, Kemin L, Qingli L, Danqing W, Rutie Y, Liang S.
    • Medicine (Baltimore). 2018 Sep;97(38):e12371. doi: 10.1097/MD.0000000000012371.
    • Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.
    • Wang Y, Jiang D, Zhao Q, Huang H, Zhang X, Cui Y, Liu J, Wu J, Lin K, Chen W, Xiang J, Jin H, Peng Z, Banerjee S.
    • Oncol Lett. 2018 Sep;16(3):3913-3916. doi: 10.3892/ol.2018.9139. Epub 2018 Jul 12.
    • Breast Cancer Surgical Risk Reduction for Patients With Inherited Mutations in Moderate Penetrance Genes.
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    • JAMA Surg. 2018 Aug 29. doi: 10.1001/jamasurg.2018.2493. [Epub ahead of print]
    • Review
    • Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
    • Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, Mu W, Huether R, Chen J, Sridhar S, Tian Y, McFarland R, Dolinsky J, Tippin Davis B, Mexal S, Dunlop C, Elliott A.
    • JAMA Oncol. 2018 Aug 16. doi: 10.1001/jamaoncol.2018.2956. [Epub ahead of print]

    Commentary:

    Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.

    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, 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.

    • 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.
    • Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers.
    • Kotsopoulos J, Gronwald J, Karlan BY, Huzarski T, Tung N, Moller P, Armel S, Lynch HT, Senter L, Eisen A, Singer CF, Foulkes WD, Jacobson MR, Sun P, Lubinski J, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • JAMA Oncol. 2018 Aug 1;4(8):1059-1065. doi: 10.1001/jamaoncol.2018.0211.

    Research News: Hormone therapy and breast cancer risk after ovary removal in women with a BRCA1 mutation. (FORCE, XRAYS)

    Commentary, Video: Menopausal Hormone Therapy and Risk for Breast Cancer in BRCA1 Mutation Carriers. (Medscape)

    • Smoking and FGFR2 rs2981582 variant independently modulate male breast cancer survival: A population-based study in Tuscany, Italy.
    • Zanna I, Silvestri V, Palli D, Magrini A, Rizzolo P, Saieva C, Zelli V, Bendinelli B, Vezzosi V, Valentini V, Bianchi S, Ottini L, Masala G.
    • Breast. 2018 Aug;40:85-91. doi: 10.1016/j.breast.2018.04.017. Epub 2018 Apr 28.
    • Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers.
    • Derks-Smeets IAP, Schrijver LH, de Die-Smulders CEM, Tjan-Heijnen VCG, van Golde RJT, Smits LJ, Caanen B, van Asperen CJ, Ausems M, Collée M, van Engelen K, Kets CM, van der Kolk L, Oosterwijk JC, van Os TAM; HEBON, Rookus MA, van Leeuwen FE, Gómez García EB.
    • Br J Cancer. 2018 May 1 [2018 Aug];119(3):357-363. doi: 10.1038/s41416-018-0139-1.
    • Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.
    • Abulkhair O, Al Balwi M, Makram O, Alsubaie L, Faris M, Shehata H, Hashim A, Arun B, Saadeddin A, Ibrahim E.
    • J Glob Oncol. 2018 Aug;(4):1-9. doi: 10.1200/JGO.18.00066.
    • 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
    • Does stress increase risk of breast cancer? A 15-year prospective study.
    • Butow P, Price M, Coll J, Tucker K, Meiser B, Milne R, Wilson J, Heiniger L, Baylock B, Bullen T, Weideman P, Phillips KA; kConFab investigators; kConFab Clinical Follow-Up investigators; kConFab psychosocial investigators.
    • Psychooncology. 2018 Aug;27(8):1908-1914. doi: 10.1002/pon.4740. Epub 2018 May 4.
    • Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer.
    • Celik E, Ermis Tekkus K, Akcay IM, Alkurt Sal G, Ezberci F, Dinler Doganay G, Doganay L.
    • Clin Case Rep. 2018 Jul 17;6(9):1751-1755. doi: 10.1002/ccr3.1625. eCollection 2018 Sep.
    • 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 M5, Garbowicz M, Klukowski M, Wojciechowicz J.
    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • Case report
    • Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands’ Susceptibility Gene Mutation Status.
    • Antwi SO, Fagan SE, Chaffee KG, Bamlet WR, Hu C, Polley EC, Hart SN, Shimelis H, Lilyquist J, Gnanaolivu RD, McWilliams RR, Oberg AL, Couch FJ, Petersen GM.
    • J Natl Cancer Inst. 2018 Jul 2. doi: 10.1093/jnci/djx272. [Epub ahead of print]
    • 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

    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.

    • Mortality and Risk of Cancer After Prophylactic Bilateral Oophorectomy in Women With a Family History of Cancer.
    • Abildgaard J, Ahlström MG, Daugaard G, Nielsen DL, Tønnes Pedersen A, Lindegaard B, Obel N.
    • JNCI Cancer Spectrum. 2018 Jul 1;2(3):pky034. doi: 10.1093/jncics/pky034.
    • 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.
    • Uptake of risk-reducing surgery in BRCA gene carriers in Wales, UK.
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    • Breast J. 2018 Jul;24(4):580-585. doi: 10.1111/tbj.12978. Epub 2017 Dec 29.
    • The impact of patient age on breast cancer risk prediction models.
    • Coopey SB, Acar A, Griffin M, Cintolo-Gonzalez J, Semine A, Hughes KS.
    • Breast J. 2018 Jul;24(4):592-598. doi: 10.1111/tbj.12976. Epub 2018 Jan 8.
    • 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.

    Next generation sequencing is informing phenotype: a TP53 example.

    • Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study.
    • Schrijver LH, Olsson H, Phillips KA, Terry MB, Goldgar DE, Kast K, Engel C, Mooij TM, Adlard J, Barrowdale D, Davidson R, Eeles R, Ellis S, Evans DG, Frost D, Izatt L, Porteous ME, Side LE, Walker L, Berthet P, Bonadona V, Leroux D, Mouret-Fourme E, Venat-Bouvet L, Buys SS, Southey MC, John EM, Chung WK, Daly MB, Bane A, van Asperen CJ, Gómez Garcia EB, Mourits MJE, van Os TAM, Roos-Blom MJ, Friedlander ML, McLachlan SA, Singer CF, Tan YY, Foretova L, Navratilova M, Gerdes AM, Caldes T, Simard J, Olah E, Jakubowska A, Arver B, Osorio A, Noguès C, Andrieu N, Easton DF, van Leeuwen FE, Hopper JL, Milne RL, Antoniou AC, Rookus MA; EMBRACE, GENEPSO, BCFR, HEBON, kConFab, and IBCCS.
    • JNCI Cancer Spectr. 2018 Jun 28;2(2):pky023. doi: 10.1093/jncics/pky023. eCollection 2018 Apr.
    • Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.
    • Pajares B, Porta J, Porta JM, Sousa CF, Moreno I, Porta D, Durán G, Vega T, Ortiz I, Muriel C, Alba E, Márquez A.
    • BMC Cancer. 2018 Jun 8;18(1):647. doi: 10.1186/s12885-018-4537-9.
    • Orbital Metastases from Breast Cancer with BRCA2 Mutation: A Case Report and Literature Review.
    • Barber E, Lyou Y, Mehta R, Lin E, Lane K, Parajuli R.
    • Case Rep Oncol. 2018 Jun 7;11(2):360-364. doi: 10.1159/000489698. eCollection 2018 May-Aug.
    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

    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.
    • Reproductive history, breast-feeding and risk of triple negative breast cancer: The Breast Cancer Etiology in Minorities (BEM) study.
    • John EM, Hines LM, Phipps AI, Koo J, Longacre TA, Ingles SA, Baumgartner KB, Slattery ML, Wu AH.
    • Int J Cancer. 2018 Jun 1;142(11):2273-2285. doi: 10.1002/ijc.31258. Epub 2018 Jan 30.
    • Malignant Abnormalities in Male BRCA Mutation Carriers: Results From a Prospectively Screened Cohort.
    • Mano R, Tamir S, Kedar I, Benjaminov O, Baniel J, Tabachnik T, Margel D.
    • JAMA Oncol. 2018 Jun 1;4(6):872-874. doi: 10.1001/jamaoncol.2018.0271.
    • 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.
    • Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.
    • Wei H, Wang M, Ou J, Jiang W, Tian F, Sheng Y, Li H, Xu H, Zhang R, Guan A, Wang C, Jiang H, Ren Y, He J, Liu J, Huang W, Liao N, Cai X, Ming J, Ling R, Xu Y, Hu C, Zhang J, Guo B, Ouyang L, Shuai P, Liu Z, Zhong L, Jing R, Zeng Z, Zhang M, Zhang T, Xuan Z, Tan X, Liang J, Pan Q, Chen L, Zhang F, Fan L, Zhang Y, Yang X, Li J, Chen C, Jiang J.
    • Oncol Lett. 2018 Jun;15(6):9420-9428. doi: 10.3892/ol.2018.8538. Epub 2018 Apr 18.
    • 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.
    • 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.
    • Mammographic density changes in surgical weight loss-an indication for personalized screening.
    • Partain N, Mokdad A, Puzziferri N, Porembka J, Seiler S, Christie A, Farr D, Rivers A, Marilyn Leitch A, Wooldridge R, Huth J, Rao R.
    • BMC Med Imaging. 2018 May 9;18(1):10. doi: 10.1186/s12880-017-0242-4.
    • Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.
    • Augustinsson A, Ellberg C, Kristoffersson U, Borg Å, Olsson H.
    • Acta Oncol. 2018 May;57(5):595-603. doi: 10.1080/0284186X.2017.1404635. Epub 2017 Nov 22.
    • Triple negative breast cancer: new therapeutic approaches and BRCA status.
    • Guney Eskiler G, Cecener G, Egeli U, Tunca B.
    • APMIS. 2018 May;126(5):371-379. doi: 10.1111/apm.12836.
    • Review
    • The Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers without a First-Degree Relative with Breast Cancer.
    • Metcalfe KA, Lubinski J, Gronwald J, Huzarski T, McCuaig J, Lynch HT, Karlan B, Foulkes WD, Singer CF, Neuhausen SL, Senter L, Eisen A, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Clin Genet. 2018 May;93(5):1063-1068. doi: 10.1111/cge.13191. Epub 2018 Mar 25.
    • The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
    • Colombo M, Lòpez-Perolio I, Meeks HD, Caleca L, Parsons M, Li H, De Vecchi G, Tudini E, Foglia C, Mondini P, Manoukian S, Behar R, Garcia EBG, Meindl A, Montagna M, Niederacher D, Schmidt AY, Varesco L, Wappenschmidt B, Bolla MK, Dennis J, Michailidou K, Wang Q, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadel A, Benitez J, Boeckx B, Bogdanova NV, Bojesen SE, Bonanni B, Brauch H, Brenner H, Burwinkel B, Chang-Claude J, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Eriksson M, Fasching PA, Figueroa J, Fletcher O, Flyger H, Gabrielson M, García-Closas M, Giles GG, González-Neira A, Guénel P, Haiman CA, Hall P, Hamann U, Hartman M, Hauke J, Hollestelle A, Hopper JL, Jakubowska A, Jung A, Kosma VM, Lambrechts D, Marchand LL, Lindblom A, Lubinski J, Mannermaa A, Margolin S, Miao H, Milne RL, Neuhausen SL, Nevanlinna H, Olson JE, Peterlongo P, Peto J, Pylkäs K, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, See MH, Southey MC, Swerdlow A, Teo SH, Toland AE, Tomlinson I, Truong T, van Asperen CJ, van den Ouweland AMW, van der Kolk L, Winqvist R, Yannoukakos D, Zheng W; kConFab/AOCS Investigators, Dunning AM, Easton DF, Henderson A, Hogervorst F, Izatt L, Offitt K, Side LE, van Rensburg EJ, Embrace S, Hebon S, McGuffog L, Antoniou AC, Chenevix-Trench G, Spurdle AB, Goldgar DE, de la Hoya M, Radice P.
    • Hum Mutat. 2018 May;39(5):729-741. doi: 10.1002/humu.23411. Epub 2018 Apr 6.
    • Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country.
    • Chew W, Moorakonda RB, Courtney E, Soh H, Li ST, Chen Y, Shaw T, Allen JC, Evans DGR, Ngeow J.
    • J Med Genet. 2018 May;55(5):344-350. doi: 10.1136/jmedgenet-2017-105073. Epub 2017 Dec 23.
    • Somatic mutations in early onset luminal breast cancer.
    • Encinas G, Sabelnykova VY, de Lyra EC, Hirata Katayama ML, Maistro S, de Vasconcellos Valle PWM, de Lima Pereira GF, Rodrigues LM, de Menezes Pacheco Serio PA, de Gouvêa ACRC, Geyer FC, Basso RA, Pasini FS, Del Pilar Esteves Diz M, Brentani MM, Guedes Sampaio Góes JC, Chammas R, Boutros PC, Koike Folgueira MAA.
    • Oncotarget. 2018 Apr 27;9(32):22460-22479. doi: 10.18632/oncotarget.25123. eCollection 2018 Apr 27.
    • Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients.
    • Kaur RP, Shafi G, Benipal RPS, Munshi A.
    • Med Oncol. 2018 Apr 26;35(6):81. doi: 10.1007/s12032-018-1143-2.
    • Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies.
    • Pande M, Joon A, Brewster AM, Chen WV, Hopper JL, Eng C, Shete S, Casey G, Schumacher F, Lin Y, Harrison TA, White E, Ahsan H, Andrulis IL, Whittemore AS, John EM, Ko Win A, Makalic E, Schmidt DF, Kapuscinski MK, Ochs-Balcom HM, Gallinger S, Jenkins MA, Newcomb PA, Lindor NM, Peters U, Amos CI, Lynch PM.
    • PLoS One. 2018 Apr 26;13(4):e0196245. doi: 10.1371/journal.pone.0196245. eCollection 2018.
    • The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients.
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    • FORCE. XRAYS. 2018 Feb 15.

    Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

    Commentary:

    Breast cancer in young women: do BRCA1 or BRCA2 mutations matter?

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    • Should biannual MRIs replace annual mammograms in high-risk women?
    • [No author given]
    • FORCE. XRAYS. 2018 Feb 1.

    Press: Biannual MRI Better Than Annual Mammogram at Detecting Breast Cancer in High-risk Women, Study Finds. (Breast Cancer News)

    Press: For women with genetic risk, semi-annual MRI beats mammograms. (ScienceDaily)

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    Commentary:

    Breast cancer in young women: do BRCA1 or BRCA2 mutations matter?

    Research news:

    Young women with BRCA mutation can safely postpone radical surgery.

    Press: Survival After Breast Cancer 'Unaffected by BRCA Status' (Medscape)

    Research news: Survival and mutation status in breast cancer patients under age 40. (FORCE: XRAYS)

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    • Breast Cancer News. 2018 Jan 5.

    Research News: Should biannual MRIs replace annual mammograms in high-risk women? (FORCE, XRAYS)

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    • Letter, Case report
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    • For women with genetic risk, semi-annual MRI beats mammograms.
    • [No author given.]
    • ScienceDaily. 2017 Dec 11.

    Research News: Should biannual MRIs replace annual mammograms in high-risk women? (FORCE, XRAYS)

    • Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
    • Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC.
    • JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

    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.)

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    Retraction of Publication:

    Retraction Note to: The BRCA2 variant c.68-7 T > A is associated with breast cancer.

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    Editorial:

    Fine Tuning the Risk of Hereditary Cancer Using Genome-Wide Association Studies.

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    • Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.
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    • Review
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    • Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.
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    • Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
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    Research news:

    Family history is strong risk factor in BRCA1 and BRCA2 carriers, study finds.

    Research news:

    Genetics: BRCA-mutant breast/ovarian cancer revealed.

    Press: Breast and ovarian cancers: Large study improves estimates of genetic risk. (Medical News Today)

    Press: Most Precise Estimates Ever of Cancer Risks With BRCA. (Medscape)

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    • Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
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    • A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.
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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: PALB2 breast cancer recurrence

    Subject: article request

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    • Yao L, Sun J, Zhang J, He Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Breast Cancer Res Treat. 2016 Apr;156(3):441-5. doi: 10.1007/s10549-016-3766-3. Epub 2016 Mar 31.
    • Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.
    • González-Rivera M, Lobo M, López-Tarruella S, Jerez Y, Del Monte-Millán M, Massarrah T, Ramos-Medina R, Ocaña I, Picornell A, Garzón SS, Pérez-Carbornero L, García-Saenz JA, Gómez H, Moreno F, Márquez-Rodas I, Fuentes H, Martin M.
    • Breast Cancer Res Treat. 2016 Apr;156(3):507-15. doi: 10.1007/s10549-016-3792-1. Epub 2016 Apr 15.
    • [Relationship of clinicopathological features and chemotherapeutic outcomes in women with BRCA1 and BRCA2 mutation-negative familial breast cancer].
    • Zhang J, Sun J, Ouyang T, Li JF, Wang TF, Fan ZQ, Fan T, Lin BY, Xie YT.
    • Zhonghua Zhong Liu Za Zhi. 2016 Mar 23;38(3):185-9. doi: 10.3760/cma.j.issn.0253-3766.2016.03.005.
    • Triple-Negative versus Non-Triple-Negative Breast Cancers in High-Risk Women: Phenotype Features and Survival from the HIBCRIT-1 MRI-Including Screening Study.
    • Podo F, Santoro F, Di Leo G, Manoukian S, de Giacomi C, Corcione S, Cortesi L, Carbonaro LA, Trimboli RM, Cilotti A, Preda L, Bonanni B, Pensabene M, Martincich L, Savarese A, Contegiacomo A, Sardanelli F.
    • Clin Cancer Res. 2016 Feb 15;22(4):895-904. doi: 10.1158/1078-0432.CCR-15-0459. Epub 2015 Oct 26.
    • 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.
    • Women's Health Issues for BRCA Mutation Carriers.
    • Sabatini ME, Ellisen LW.
    • Am Soc Clin Oncol Educ Book. 2016;35:14-17. doi: 10.14694/EDBK_100001.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: hormonal birth control with ATM mutations?

    • Genetics: Relative risk.
    • Velasquez-Manoff M.
    • Nature. 2015 Nov 18;527(7578):S116-S117. doi: 10.1038/527S116a.
    • Review
    • Does the age of breast cancer diagnosis in first-degree relatives impact on the risk of breast cancer in BRCA1 and BRCA2 mutation carriers?
    • Semple J, Metcalfe KA, Lubinski J, Huzarski T, Gronwald J, Armel S, Lynch HT, Karlan B, Foulkes W, Singer CF, Neuhausen SL, Eng C, Iqbal J, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Breast Cancer Res Treat. 2015 Nov;154(1):163-9.
    • 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

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 and BRCA2 mutation carriers?

    • BRCA1 mislocalization associated with breast carcinogenesis and poor prognosis in Taiwanese women.
    • Ho JY, Hsu RJ, Wu CL, Chen SH, Wu MY, Yu JC, Gao HW, Yen AM, Chen HH, Yu CP.
    • Eur J Cancer Prev. 2015 Sep;24(5):407-15. doi: 10.1097/CEJ.0000000000000114.
    • 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

    Letter, Reply

    Response.

    • High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.
    • Rashid MU, Muhammad N, Bajwa S, Faisal S, Tahseen M, Bermejo JL, Amin A, Loya A, Hamann U.
    • BMC Cancer. 2016 Aug 23;16(1):673. doi: 10.1186/s12885-016-2698-y.
    • Bias Correction Methods Explain Much of the Variation Seen in Breast Cancer Risks of BRCA1/2 Mutation Carriers.
    • Vos JR, Hsu L, Brohet RM, Mourits MJ, de Vries J, Malone KE, Oosterwijk JC, de Bock GH.
    • J Clin Oncol. 2015 Aug 10;33(23):2553-62. doi: 10.1200/JCO.2014.59.0463. Epub 2015 Jul 6.
    • Review
    • Mammographic density and breast cancer in women from high risk families.
    • Ramón Y Cajal T, Chirivella I, Miranda J, Teule A, Izquierdo Á, Balmaña J, Sánchez-Heras AB, Llort G, Fisas D, Lope V, Hernández-Agudo E, Juan-Fita MJ, Tena I, Robles L, Guillén-Ponce C, Pérez-Segura P, Luque-Molina MS, Hernando-Polo S, Salinas M, Brunet J, Salas-Trejo MD, Barnadas A, Pollán M.
    • Breast Cancer Res. 2015 Jul 11;17:93. doi: 10.1186/s13058-015-0604-1.
    • Breast cancer in pregnancy: an institutional experience.
    • Blanquisett AH, Vicent CH, Gregori JG, Zotano ÁG, Porta VG, Simón AR.
    • Ecancermedicalscience. 2015 Jul 8;9:551. doi: 10.3332/ecancer.2015.551. eCollection 2015.
    • Epidemiological and clinicopathological characteristics of BRCA-positive and BRCA-negative breast cancer patients in Greece.
    • Triantafyllidou O, Vlachos IS, Apostolou P, Konstantopoulou I, Grivas A, Panopoulos C, Dimitrakakis C, Kassanos D, Loghis C, Bramis I, Vlahos N, Yannoukakos D, Fostira F.
    • J BUON. 2015 Jul-Aug;20(4):978-84.
    • Personal or first-degree family breast cancer history: which has higher impact on tumor detection and tumor size in breast cancer.
    • Schwab FD, Kilic N, Huang DJ, Schmid SM, Vetter M, Schötzau A, Güth U.
    • Arch Gynecol Obstet. 2015 Jun;291(6):1387-94. doi: 10.1007/s00404-014-3592-y. Epub 2014 Dec 17.
    • A case-control study to assess the impact of mammographic density on breast cancer risk in women aged 40-49 at intermediate familial risk.
    • Assi V, Massat NJ, Thomas S, MacKay J, Warwick J, Kataoka M, Warsi I, Brentnall A, Warren R, Duffy SW.
    • Int J Cancer. 2015 May 15;136(10):2378-87. doi: 10.1002/ijc.29275. Epub 2014 Nov 22.
    • Family history and risk of pregnancy-associated breast cancer (PABC).
    • Johansson AL, Andersson TM, Hsieh CC, Cnattingius S, Dickman PW, Lambe M.
    • Breast Cancer Res Treat. 2015 May;151(1):209-17. doi: 10.1007/s10549-015-3369-4. Epub 2015 Apr 19.
    • An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
    • Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, Lee A, Dennis J, Kuchenbaecker KB, Soucy P, Terry MB, Chung WK, Goldgar DE, Buys SS; Breast Cancer Family Registry, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Gerdes AM, Ejlertsen B, Nielsen FC, Hansen TV, Osorio A, Benitez J, Conejero RA, Segota E, Weitzel JN, Thelander M, Peterlongo P, Radice P, Pensotti V, Dolcetti R, Bonanni B, Peissel B, Zaffaroni D, Scuvera G, Manoukian S, Varesco L, Capone GL, Papi L, Ottini L, Yannoukakos D, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brady A, Brewer C, Foo C, Evans DG, Frost D, Eccles D; EMBRACE, Douglas F, Cook J, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Tischkowitz M, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Cole T, Godwin AK, Isaacs C, Claes K, De Leeneer K, Meindl A, Gehrig A, Wappenschmidt B, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Schmutzler RK, Preisler-Adams S, Markov NB, Wang-Gohrke S, de Pauw A, Lefol C, Lasset C, Leroux D, Rouleau E, Damiola F; GEMO Study Collaborators, Dreyfus H, Barjhoux L, Golmard L, Uhrhammer N, Bonadona V, Sornin V, Bignon YJ, Carter J, Van Le L, Piedmonte M, DiSilvestro PA, de la Hoya M, Caldes T, Nevanlinna H, Aittomäki K, Jager A, van den Ouweland AM, Kets CM, Aalfs CM, van Leeuwen FE, Hogervorst FB, Meijers-Heijboer HE; HEBON, Oosterwijk JC, van Roozendaal KE, Rookus MA, Devilee P, van der Luijt RB, Olah E, Diez O, Teulé A, Lazaro C, Blanco I, Del Valle J, Jakubowska A, Sukiennicki G, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Agnarsson BA, Maugard C, Amadori A, Montagna M, Teixeira MR, Spurdle AB, Foulkes W, Olswold C, Lindor NM, Pankratz VS, Szabo CI, Lincoln A, Jacobs L, Corines M, Robson M, Vijai J, Berger A, Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Greene MH, Mai PL, Rennert G, Imyanitov EN, Mulligan AM, Glendon G, Andrulis IL, Tchatchou S, Toland AE, Pedersen IS, Thomassen M, Kruse TA, Jensen UB, Caligo MA, Friedman E, Zidan J, Laitman Y, Lindblom A, Melin B, Arver B, Loman N, Rosenquist R, Olopade OI, Nussbaum RL, Ramus SJ, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Mitchell G, Karlan BY, Lester J, Orsulic S, Stoppa-Lyonnet D, Thomas G, Simard J, Couch FJ, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC, Mazoyer S, Phelan CM, Sinilnikova OM, Cox DG.
    • Breast Cancer Res. 2015 Apr 25;17:61. doi: 10.1186/s13058-015-0567-2.
    • Familial clustering of breast and prostate cancer and risk of postmenopausal breast cancer in the Women's Health Initiative Study.
    • Beebe-Dimmer JL, Yee C, Cote ML, Petrucelli N, Palmer N, Bock C, Lane D, Agalliu I, Stefanick ML, Simon MS.
    • Cancer. 2015 Apr 15;121(8):1265-72. doi: 10.1002/cncr.29075. Epub 2015 Mar 9.

    Press: Prostate Cancer Family History Linked to Breast Cancer Risk. (Medscape Oncology)

    • Patterns of changing cancer risks with time since diagnosis of a sibling.
    • Lee M, Czene K, Rebora P, Reilly M.
    • Int J Cancer. 2015 Apr 15;136(8):1948-56. doi: 10.1002/ijc.29239. Epub 2014 Oct 10.
    • Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.
    • Sokolenko AP, Preobrazhenskaya EV, Aleksakhina SN, Iyevleva AG, Mitiushkina NV, Zaitseva OA, Yatsuk OS, Tiurin VI, Strelkova TN, Togo AV, Imyanitov EN.
    • Cancer Lett. 2015 Apr 10;359(2):259-61. doi: 10.1016/j.canlet.2015.01.022. Epub 2015 Jan 22.
    • Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers.
    • Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay GR, Librado P, Sánchez-Gracia A, Rozas J, Bonifaci N, McGuffog L, Pankratz VS, Islam A, Mateo F, Berenguer A, Petit A, Català I, Brunet J, Feliubadaló L, Tornero E, Benítez J, Osorio A, Cajal TR, Nevanlinna H, Aittomäki K, Arun BK, Toland AE, Karlan BY, Walsh C, Lester J, Greene MH, Mai PL, Nussbaum RL, Andrulis IL, Domchek SM, Nathanson KL, Rebbeck TR, Barkardottir RB, Jakubowska A, Lubinski J, Durda K, Jaworska-Bieniek K, Claes K, Van Maerken T, Díez O, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, de la Hoya M, Caldés T, Dunning AM, Oliver C, Fineberg E, Cook M, Peock S, McCann E, Murray A, Jacobs C, Pichert G, Lalloo F, Chu C, Dorkins H, Paterson J, Ong KR, Teixeira MR; Teixeira, Hogervorst FB, van der Hout AH, Seynaeve C, van der Luijt RB, Ligtenberg MJ, Devilee P, Wijnen JT, Rookus MA, Meijers-Heijboer HE, Blok MJ, van den Ouweland AM, Aalfs CM, Rodriguez GC, Phillips KA, Piedmonte M, Nerenstone SR, Bae-Jump VL, O'Malley DM, Ratner ES, 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, Bojesen A, Pedersen IS, Sunde L, Jensen UB, Thomassen M, Kruse TA, Foretova L, Peterlongo P, Bernard L, Peissel B, Scuvera G, Manoukian S, Radice P, Ottini L, Montagna M, Agata S, Maugard C, Simard J, Soucy P, Berger A, Fink-Retter A, Singer CF, Rappaport C, Geschwantler-Kaulich D, Tea MK, Pfeiler G; BCFR, John EM, Miron A, Neuhausen SL, Terry MB, Chung WK, Daly MB, Goldgar DE, Janavicius R, Dorfling CM, van Rensburg EJ, Fostira F, Konstantopoulou I, Garber J, Godwin AK, Olah E, Narod SA, Rennert G, Paluch SS, Laitman Y, Friedman E; SWE-BRCA, Liljegren A, Rantala J, Stenmark-Askmalm M, Loman N, Imyanitov EN, Hamann U; kConFab Investigators, Spurdle AB, Healey S, Weitzel JN, Herzog J, Margileth D, Gorrini C, Esteller M, Gómez A, Sayols S, Vidal E, Heyn H; GEMO, Stoppa-Lyonnet D, Léoné M, Barjhoux L, Fassy-Colcombet M, de Pauw A, Lasset C, Ferrer SF, Castera L, Berthet P, Cornelis F, Bignon YJ, Damiola F, Mazoyer S, Sinilnikova OM, Maxwell CA, Vijai J, Robson M, Kauff N, Corines MJ, Villano D, Cunningham J, Lee A, Lindor N, Lázaro C, Easton DF, Offit K, Chenevix-Trench G, Couch FJ, Antoniou AC, Pujana MA.
    • PLoS One. 2015 Apr 1;10(4):e0120020. doi: 10.1371/journal.pone.0120020.
    • Lobular breast cancer: incidence and genetic and non-genetic risk factors.
    • Dossus L, Benusiglio PR.
    • Breast Cancer Res. 2015 Mar 13;17:37. doi: 10.1186/s13058-015-0546-7.
    • Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability.
    • Berrino J, Berrino F, Francisci S, Peissel B, Azzollini J, Pensotti V, Radice P, Pasanisi P, Manoukian S.
    • Fam Cancer. 2015 Mar;14(1):117-28. doi: 10.1007/s10689-014-9766-8.
    • Breast cancer risks and risk prediction models.
    • Engel C, Fischer C.
    • Breast Care (Basel). 2015 Feb;10(1):7-12. doi: 10.1159/000376600.
    • Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast and ovarian cancer diagnosis in a Southern Swedish cohort.
    • Ellberg C, Jernström H, Broberg P, Borg Å, Olsson H.
    • Genes Chromosomes Cancer. 2015 Jan;54(1):39-50. doi: 10.1002/gcc.22217. Epub 2014 Sep 23.
    • The curious case of a woman with two BRCA1 mutations in trans.
    • Rodney J Scott, Michelle Wong-Brown, Mary McPhillips, Susan Dooley, Allan Spigelman, Margaret Gleeson, Cliff Meldrum.
    • Hereditary Cancer in Clinical Practice 2015, 13(Suppl 2):A11; Meeting abstracts from the Annual Conference on Hereditary Cancers 2014. doi:10.1186/1897-4287-13-S2-A11
    • Conference Abstract
    • Clinicopathologic characteristics of breast cancer in BRCA-carriers and non-carriers in women 35 years of age or less.
    • Bayraktar S, Amendola L, Gutierrez-Barrera AM, Hashmi SS, Amos C, Gambello M, Ready KJ, Arun B.
    • Breast. 2014 Dec;23(6):770-4. doi: 10.1016/j.breast.2014.08.010. Epub 2014 Sep 16.
    • Clinicopathological features of young patients (<35 years of age) with breast cancer in a Japanese Breast Cancer Society supported study.
    • Kataoka A, Tokunaga E, Masuda N, Shien T, Kawabata K, Miyashita M.
    • Breast Cancer. 2014 Nov;21(6):643-50. doi: 10.1007/s12282-013-0466-2. Epub 2013 Apr 16.
    • 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.
    • BMC Med Inform Decis Mak. 2014 Oct 1;14:87. doi: 10.1186/1472-6947-14-87.
    • Breast cancer in women younger than 30 years: prevalence rate and imaging findings in a symptomatic population.
    • Makanjuola D, Alkushi A, Alzaid M, Abukhair O, Al Tahan F, Alhadab A.
    • Pan Afr Med J. 2014 Sep 16;19:35. doi: 10.11604/pamj.2014.19.35.2849. eCollection 2014.
    • Risk of breast cancer and family history of other cancers in first-degree relatives in Chinese women: a case control study.
    • Zhou W, Ding Q, Pan H, Wu N, Liang M, Huang Y, Chen L, Zha X, Liu X, Wang S.
    • BMC Cancer. 2014 Sep 11;14:662. doi: 10.1186/1471-2407-14-662.
    • Long-term prospective clinical follow-up after BRCA1/2 presymptomatic testing: BRCA2 risks higher than in adjusted retrospective studies.
    • Evans DG, Harkness E, Lalloo F, Howell A.
    • J Med Genet. 2014 Sep;51(9):573-80. doi: 10.1136/jmedgenet-2014-102336. Epub 2014 Jul 22.

    Free Medscape-style version: Long-term Prospective Clinical Follow-up After BRCA1/2 Presymptomatic Testing: BRCA2 Risks Higher Than in Adjusted Retrospective Studies. (Medscape)

    • A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
    • Seong MW, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Lee JE, Noh DY, Son BH, Park HL, Cho SI, Park SS; Korean Hereditary Breast Cancer Study Group, Kim SW.
    • Breast Cancer Res Treat. 2014 Jul;146(1):63-9. doi: 10.1007/s10549-014-3006-7. Epub 2014 Jun 4.
    • Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis.
    • Friebel TM, Domchek SM, Rebbeck TR.
    • J Natl Cancer Inst. 2014 Jun;106(6):dju091. doi: 10.1093/jnci/dju091.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: chemoprevetion for ovarian cancer

    News: Study Identifies Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. (The ASCO Post)

    • THE BRCA CANCER GENE AS A USEFUL PREDICTOR FOR DOUBLE PRIMARY BREAST AND OVARIAN CANCER: A META-ANALYSIS.
    • A. Sattaratnamai, G.D. Eslick.
    • Ann Oncol (2014 May) 25 (suppl 1): i5-i6. doi: 10.1093/annonc/mdu065.6. IMPAKT Breast Cancer Conference, 8–10 May 2014, Brussels, Belgium.
    • Conference Abstract, Meta-Analysis, Review
    • 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.
    • Comparison of breast cancers diagnosed in screening patients in their 40s with and without family history of breast cancer in a community outpatient facility.
    • Destounis SV, Arieno AL, Morgan RC, Cavanaugh D, Seifert PJ, Murphy PF, Somerville PA.
    • AJR Am J Roentgenol. 2014 Apr;202(4):928-32. doi: 10.2214/AJR.13.11194.
    • Genetic anticipation of familial breast cancer with or without BRCA mutation in the Korean population.
    • Noh JM, Choi DH, Baek H, Kim MJ, Park H, Huh SJ, Park W, Nam SJ, Lee JE, Kil WH, Haffty BG.
    • Cancer Genet. 2014 Apr;207(4):160-3. doi: 10.1016/j.cancergen.2014.04.002. Epub 2014 Apr 12.
    • Male Breast Cancer and Hyperestrogenemia: A Thirteen-Year Review.
    • Tariq KB, Al-Saffar F, Ibrahim S, Pham D, Farhangi A, Rana F, Zaiden R.
    • World J Oncol. 2014 Apr;5(2):55-61. doi: 10.14740/wjon803w. Epub 2014 May 6.
    • Clinicopathological study of non-palpable familial breast cancer detected by screening mammography and diagnosed as DCIS.
    • Saito M, Matsuzaki M, Sakuma T, Katagata N, Watanabe F, Yamaguchi Y, Schetter AJ, Takenoshita S, Nomizu T.
    • Breast Cancer. 2014 Mar;21(2):140-5. doi: 10.1007/s12282-012-0389-3. Epub 2012 Aug 9.
    • 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

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request multigene panels

    • Detection of new point mutations of BRCA1 and BRCA2 in breast cancer patients.
    • Bensam M, Hafez E, Awad D, El-Saadani M, Balbaa M.
    • Biochem Genet. 2014 Feb;52(1-2):15-28. doi: 10.1007/s10528-013-9623-8. Epub 2013 Jul 23.
    • 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.
    • Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations.
    • Brohet RM, Velthuizen ME, Hogervorst FB, Ej Meijers-Heijboer H, Seynaeve C, Collée MJ, Verhoef S, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gómez García E, Menko F, Oosterwijk JC, Devilee P, Veer LJ, van Leeuwen FE, Easton DF, Rookus MA, Antoniou AC; HEBON Resource.
    • J Med Genet. 2014 Feb;51(2):98-107. doi: 10.1136/jmedgenet-2013-101974. Epub 2013 Nov 27.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 Positive Patients and Oral Contraceptive Usage

    • Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing.
    • De Mattos-Arruda L, Bidard FC, Won HH, Cortes J, Ng CK, Peg V, Nuciforo P, Jungbluth AA, Weigelt B, Berger MF, Seoane J, Reis-Filho JS.
    • Mol Oncol. 2014 Feb;8(1):150-8. doi: 10.1016/j.molonc.2013.10.006. Epub 2013 Oct 31.
    • Risk assessment of multistate progression of breast tumor with state-dependent genetic and environmental covariates.
    • Wu YY, Yen MF, Yu CP, Chen HH.
    • Risk Anal. 2014 Feb;34(2):367-79. doi: 10.1111/risa.12116. Epub 2013 Sep 23.
    • A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype.
    • Fostira F, Tsoukalas N, Konstantopoulou I, Georgoulias V, Christophyllakis C, Yannoukakos D.
    • Case Rep Genet. 2014;2014:875029. doi: 10.1155/2014/875029. Epub 2014 Feb 10.
    • Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
    • Casey MJ, Bewtra C, Lynch HT, Snyder C, Stacy M, Watson P.
    • Fam Cancer. 2013 Dec;12(4):719-40. doi: 10.1007/s10689-013-9651-x.
    • Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
    • de Juan Jiménez I, García Casado Z, Palanca Suela S, Esteban Cardeñosa E, López Guerrero JA, Segura Huerta A, Chirivella González I, Sánchez Heras AB, Juan Fita MJ, Tena García I, Guillen Ponce C, Martínez de Dueñas E, Romero Noguera I, Salas Trejo D, Goicoechea Sáez M, Bolufer Gilabert P.
    • Fam Cancer. 2013 Dec;12(4):767-77. doi: 10.1007/s10689-013-9622-2.
    • Review of risk factors for the development of contralateral breast cancer.
    • Lizarraga IM, Sugg SL, Weigel RJ, Scott-Conner CE.
    • Am J Surg. 2013 Nov;206(5):704-8. doi: 10.1016/j.amjsurg.2013.08.002. Epub 2013 Sep 6.
    • Review
    • The sex hormone system in carriers of BRCA1/2 mutations: a case-control study.
    • Widschwendter M, Rosenthal AN, Philpott S, Rizzuto I, Fraser L, Hayward J, Intermaggio MP, Edlund CK, Ramus SJ, Gayther SA, Dubeau L, Fourkala EO, Zaikin A, Menon U, Jacobs IJ.
    • Lancet Oncol. 2013 Nov;14(12):1226-32. doi: 10.1016/S1470-2045(13)70448-0. Epub 2013 Oct 17.

    Letter, Comment:

    Untangling BRCA mutations, sex hormones, and cancer risk.

    Press: Female hormones key to breast and ovarian cancer in BRCA gene carriers. (Medical Xpress)

    • JOURNAL CLUB: Is screening MRI indicated for women with a personal history of breast cancer? Analysis based on biopsy results.
    • Arazi-Kleinman T, Skair-Levy M, Slonimsky E, Maly B, Uziely B, Libson E, Sella T.
    • AJR Am J Roentgenol. 2013 Oct;201(4):919-27. doi: 10.2214/AJR.11.8450.
    • Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort.
    • Greenup R, Buchanan A, Lorizio W, Rhoads K, Chan S, Leedom T, King R, McLennan J, Crawford B, Kelly Marcom P, Shelley Hwang E.
    • Ann Surg Oncol. 2013 Oct;20(10):3254-8. doi: 10.1245/s10434-013-3205-1. Epub 2013 Aug 22.
    • [Multiple primary malignancies in BRCA1 mutation carriers--two clinical cases].
    • Badora A, Kaleta B, Nowara E, Sikora-Jopek M, Budryk M, Smok-Ragankiewicz A.
    • Ginekol Pol. 2013 Oct;84(10):892-6.
    • Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
    • Phillips KA, Milne RL, Rookus MA, Daly MB, Antoniou AC, Peock S, Frost D, Easton DF, Ellis S, Friedlander ML, Buys SS, Andrieu N, Noguès C, Stoppa-Lyonnet D, Bonadona V, Pujol P, McLachlan SA, John EM, Hooning MJ, Seynaeve C, Tollenaar RA, Goldgar DE, Terry MB, Caldes T, Weideman PC, Andrulis IL, Singer CF, Birch K, Simard J, Southey MC, Olsson HL, Jakubowska A, Olah E, Gerdes AM, Foretova L, Hopper JL.
    • J Clin Oncol. 2013 Sep 1;31(25):3091-9. doi: 10.1200/JCO.2012.47.8313. Epub 2013 Aug 5.

    Press: Tamoxifen Cuts Risk for Breast Cancer in BRCA Carriers. (Medscape)

    Press: Tamoxifen for prevention in high-risk breast cancer. (Medical News Today)

    Press: In BRCA, Tamoxifen May Reduce Contralateral Breast Cancer Risk. (Clinical Oncology News)

    • Risk factors for pregnancy-associated breast cancer: a report from the Nigerian Breast Cancer Study.
    • Hou N, Ogundiran T, Ojengbede O, Morhason-Bello I, Zheng Y, Fackenthal J, Adebamowo C, Anetor I, Akinleye S, Olopade OI, Huo D.
    • Ann Epidemiol. 2013 Sep;23(9):551-7. doi: 10.1016/j.annepidem.2013.06.008. Epub 2013 Jul 20.
    • Diagnostic chest X-rays and breast cancer risk before age 50 years for BRCA1 and BRCA2 mutation carriers.
    • John EM1, McGuire V, Thomas D, Haile R, Ozcelik H, Milne RL, Felberg A, West DW, Miron A, Knight JA, Terry MB, Daly M, Buys SS, Andrulis IL, Hopper JL, Southey MC, Giles GG, Apicella C, Thorne H; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Whittemore AS.
    • Cancer Epidemiol Biomarkers Prev. 2013 Sep;22(9):1547-56. doi: 10.1158/1055-9965.EPI-13-0189. Epub 2013 Jul 12.
    • Are bilateral breast cancers different from breast cancers coexisting with ovarian cancer? An immunohistochemical analysis aimed at intrinsic tumor phenotype.
    • Senkus E, Szade J, Pieczyńska B, Żaczek A, Brożek I, Radecka B, Kowalczyk A, Wełnicka-Jaśkiewicz M, Jassem J.
    • Breast. 2013 Aug;22(4):425-30. doi: 10.1016/j.breast.2013.04.005. Epub 2013 May 1.
    • Exposure to diagnostic levels of radiation prior to age 30 increases the risk of breast cancer in BRCA1/2 carriers.
    • Haffty BG, Lee C.
    • Evid Based Med. 2013 Aug;18(4):e40. doi: 10.1136/eb-2012-101075. Epub 2012 Dec 5.
    • Comment

    Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).

    • The complex genetic landscape of familial breast cancer.
    • Melchor L, Benítez J.
    • Hum Genet. 2013 Aug;132(8):845-63. doi: 10.1007/s00439-013-1299-y. Epub 2013 Apr 5.
    • Review
    • Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.
    • Tryggvadottir L, Olafsdottir EJ, Olafsdottir GH, Sigurdsson H, Johannsson OT, Bjorgvinsson E, Alexiusdottir K, Stefansson OA, Agnarsson BA, Narod SA, Eyfjord JE, Jonasson JG.
    • Breast Cancer Res Treat. 2013 Jul;140(2):375-84. doi: 10.1007/s10549-013-2637-4. Epub 2013 Jul 16.
    • 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.
    • Ingham S, Warwick J, Byers H, Lalloo F, Newman W, Evans D.
    • Clin Genet. 2013 Jul;84(1):37-42. doi: 10.1111/cge.12035. Epub 2012 Nov 20.
    • Parental origin of mutation and the risk of breast cancer in a prospective study of women with a BRCA1 or BRCA2 mutation.
    • Senst N, Llacuachaqui M, Lubinski J, Lynch H, Armel S, Neuhausen S, Ghadirian P, Sun P, Narod S; Hereditary Breast Cancer Study Group.
    • Clin Genet. 2013 Jul;84(1):43-6. doi: 10.1111/cge.12037. Epub 2012 Nov 7.
    • Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk.
    • Tilanus-Linthorst MM, Lingsma HF, Evans DG, Thompson D, Kaas R, Manders P, van Asperen CJ, Adank M, Hooning MJ, Kwan Lim GE, Eeles R, Oosterwijk JC, Leach MO, Steyerberg EW.
    • Int J Cancer. 2013 Jul;133(1):156-63. doi: 10.1002/ijc.28014. Epub 2013 Feb 13.
    • Breast Cancer Gene Mutations More Common in Black Women.
    • Johnson K.
    • Medscape Medical News. Conference News. 2013 Jun 6.
    • Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
    • Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt L, Eeles RA, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Douglas F, Hodgson S, Walker L, Porteous ME, Morrison PJ, Side LE, Kennedy MJ, Houghton C, Donaldson A, Rogers MT, Dorkins H, Miedzybrodzka Z, Gregory H, Eason J, Barwell J, McCann E, Murray A, Antoniou AC, Easton DF; EMBRACE.
    • J Natl Cancer Inst. 2013 Jun 5;105(11):812-22. doi: 10.1093/jnci/djt095. Epub 2013 Apr 29.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA risks by age

    Subject: Counseling against RRM in a 60 year old with BRCA2 mutation?

    Press: Cancer Risks for BRCA1 and BRCA2 Mutation Carriers (Medscape)

    • BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.
    • Akilzhanova AR, Nyshanbekkyzy B, Nurkina ZM, Shtephanov II, Makishev AK, Adylkhanov TA, Rakhypbekov TK, Ramanculov EM, Momynaliev KT.
    • Cent Asian J Glob Health. 2013 May 21;2(1):29. doi: 10.5195/cajgh.2013.29. eCollection 2013.

    Editorial:

    Editorial: BRCA1 and BRCA2 gene mutations screening in sporadic breast cancer patients in Kazakhstan.

    • Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer.
    • Domchek SM, Jhaveri K, Patil S, Stopfer JE, Hudis C, Powers J, Stadler Z, Goldstein L, Kauff N, Khasraw M, Offit K, Nathanson KL, Robson M.
    • Cancer. 2013 Apr 1;119(7):1344-1348. doi: 10.1002/cncr.27842. Epub 2012 Nov 16.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Breast cancer risk in ovarian cancer survivors

    Subject: BRCA+ ovarian ca dx- breast ca risk and outcomes

    • The risk of primary and contralateral breast cancer after ovarian cancer in BRCA1/BRCA2 mutation carriers: Implications for counseling.
    • Vencken PM, Kriege M, Hooning M, Menke-Pluymers MB, Heemskerk-Gerritsen BA, van Doorn LC, Collée MM, Jager A, van Montfort C, Burger CW, Seynaeve C.
    • Cancer. 2013 Mar 1;119(5):955-62. doi: 10.1002/cncr.27839. Epub 2012 Nov 16.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Breast cancer risk in ovarian cancer survivors

    Subject: BRCA+ ovarian ca dx- breast ca risk and outcomes

    • Baseline E(2) levels are higher in BRCA2 mutation carriers: a potential target for prevention?
    • Kim J, Oktay K.
    • Cancer Causes Control. 2013 Mar;24(3):421-6. doi: 10.1007/s10552-012-0127-3. Epub 2012 Dec 28.
    • 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.
    • The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.
    • Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH; KOHBRA Research Group and the Korean Breast Cancer Society.
    • Fam Cancer. 2013 Mar;12(1):75-81. doi: 10.1007/s10689-012-9578-7.
    • 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.
    • Contralateral breast cancer risk in BRCA1/2-positive families needs to be adjusted for phenocopy rates particularly in second-degree untested relatives.
    • Evans DG, Howell A, Ingham SL, Buchan I.
    • Breast Cancer Res. 2013 Feb 26;15(1):401. doi: 10.1186/bcr3382.
    • BRCA1 germ-line mutations and tumor characteristics in eastern Chinese women with familial breast cancer.
    • Cao W, Wang X, Gao Y, Yang H, Li JC.
    • Anat Rec (Hoboken). 2013 Feb;296(2):273-8. doi: 10.1002/ar.22628. Epub 2012 Nov 23.
    • Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway.
    • Møller P, Maehle L, Vabø A, Clark N, Sun P, Narod S.
    • Clin Genet. 2013 Jan;83(1):88-91. doi: 10.1111/j.1399-0004.2012.01855.x. Epub 2012 Mar 1.
    • Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.
    • Laraqui A, Uhrhammer N, Lahlou-Amine I, El Rhaffouli H, El Baghdadi J, Dehayni M, Moussaoui RD, Ichou M, Sbitti Y, Al Bouzidi A, Amzazi S, Bignon YJ.
    • Int J Med Sci. 2013;10(1):60-7. doi: 10.7150/ijms.5014. Epub 2012 Dec 10.
    • 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
    • [Choices for women at risk of hereditary breast cancer].
    • Saadatmand S, Obdeijn IM, Koppert LB, Tilanus-Linthorst M.
    • Ned Tijdschr Geneeskd. 2013;157(43):A6625.
    • Case report, Review, [Article in Dutch]
    • The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study.
    • Rhiem K, Engel C, Graeser M, Zachariae S, Kast K, Kiechle M, Ditsch N, Janni W, Mundhenke C, Golatta M, Varga D, Preisler-Adams S, Heinrich T, Bick U, Gadzicki D, Briest S, Meindl A, Schmutzler RK.
    • Breast Cancer Res. 2012 Dec 7;14(6):R156. doi: 10.1186/bcr3369.
    • High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer.
    • Gaj P, Kluska A, Nowakowska D, Bałabas A, Piątkowska M, Dabrowska M, Niwińska A, Ostrowski J.
    • Fam Cancer. 2012 Dec;11(4):623-8. doi: 10.1007/s10689-012-9560-4.
    • BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.
    • Gutiérrez Espeleta G, Llacuachaqui M, García-Jiménez L, Aguilar Herrera M, Loáiciga Vega K, Ortiz A, Royer R, Li S, Narod S.
    • Clin Genet. 2012 Nov;82(5):484-8. doi: 10.1111/j.1399-0004.2011.01774.x. Epub 2011 Oct 5.
    • Chromosomal instability induced by mammography X-rays in primary human fibroblasts from BRCA1 and BRCA2 mutation carriers.
    • Frankenberg-Schwager M, Gregus A.
    • Int J Radiat Biol. 2012 Nov;88(11):846-57. doi: 10.3109/09553002.2012.711500. Epub 2012 Oct 1.
    • Breast cancer: Radiation risk in BRCA carriers.
    • Hutchinson L.
    • Nat Rev Clin Oncol. 2012 Nov;9(11):611. doi: 10.1038/nrclinonc.2012.175. Epub 2012 Sep 25.
    • Comment

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Article Request

    Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).

    • BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.
    • Solano AR, Aceto GM, Delettieres D, Veschi S, Neuman MI, Alonso E, Chialina S, Chacón RD, Renato MC, Podestá EJ.
    • Springerplus. 2012 Sep 25;1:20. doi: 10.1186/2193-1801-1-20. eCollection 2012.
    • Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).
    • Pijpe A, Andrieu N, Easton DF, Kesminiene A, Cardis E, Noguès C, Gauthier-Villars M, Lasset C, Fricker JP, Peock S, Frost D, Evans DG, Eeles RA, Paterson J, Manders P, van Asperen CJ, Ausems MG, Meijers-Heijboer H, Thierry-Chef I, Hauptmann M, Goldgar D, Rookus MA, van Leeuwen FE; GENEPSO; EMBRACE; HEBON.
    • BMJ. 2012 Sep 6;345:e5660. doi: 10.1136/bmj.e5660.

    Comment:

    Exposure to diagnostic levels of radiation prior to age 30 increases the risk of breast cancer in BRCA1/2 carriers.

    Comment:

    Breast cancer: Radiation risk in BRCA carriers.

    Research News:

    X-rays increase breast cancer risk in women with gene mutation.

    Press: X-Rays May Up Breast Cancer Risk for Women With Certain Genes: Study (HealthDay)

    • Molecular characteristics and prognostic features of breast cancer in Nigerian compared with UK women.
    • Agboola AJ, Musa AA, Wanangwa N, Abdel-Fatah T, Nolan CC, Ayoade BA, Oyebadejo TY, Banjo AA, Deji-Agboola AM, Rakha EA, Green AR, Ellis IO.
    • Breast Cancer Res Treat. 2012 Sep;135(2):555-69. doi: 10.1007/s10549-012-2173-7. Epub 2012 Jul 29.

    Letter, Comment:

    Too many statistical errors for meaningful interpretation.

    • Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined.
    • Heijnsdijk EA, Warner E, Gilbert FJ, Tilanus-Linthorst MM, Evans G, Causer PA, Eeles RA, Kaas R, Draisma G, Ramsay EA, Warren RM, Hill KA, Hoogerbrugge N, Wasser MN, Bergers E, Oosterwijk JC, Hooning MJ, Rutgers EJ, Klijn JG, Plewes DB, Leach MO, de Koning HJ.
    • Cancer Epidemiol Biomarkers Prev. 2012 Sep;21(9):1458-68. doi: 10.1158/1055-9965.EPI-11-1196. Epub 2012 Jun 28.
    • Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases.
    • Brozek I, Ratajska M, Piatkowska M, Kluska A, Balabas A, Dabrowska M, Nowakowska D, Niwinska A, Rachtan J, Steffen J, Limon J.
    • Fam Cancer. 2012 Sep;11(3):351-4. doi: 10.1007/s10689-012-9519-5.
    • Breast cancer risk factors differ between Asian and white women with BRCA1/2 mutations.
    • de Bruin MA, Kwong A, Goldstein BA, Lipson JA, Ikeda DM, McPherson L, Sharma B, Kardashian A, Schackmann E, Kingham KE, Mills MA, West DW, Ford JM, Kurian AW.
    • Fam Cancer. 2012 Sep;11(3):429-39. doi: 10.1007/s10689-012-9531-9.
    • Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome.
    • This P, de la Rochefordière A, Savignoni A, Falcou MC, Tardivon A, Thibault F, Alran S, Fourchotte V, Fitoussi A, Couturaud B, Dolbeault S, Salmon RJ, Sigal-Zafrani B, Asselain B, Stoppa-Lyonnet D.
    • Fam Cancer. 2012 Sep;11(3):473-82. doi: 10.1007/s10689-012-9539-1.
    • BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
    • Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators, Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium.
    • J Med Genet. 2012 Aug;49(8):525-32.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Pathogenic variant with low penetrance identified in BRCA1

    Subject: Reduced penetrance pathogenic BRCA1 mutation

    Free article: BRCA1 R1699Q Variant Displaying Ambiguous Functional Abrogation Confers Intermediate Breast and Ovarian Cancer Risk. (Medscape)

    • Increased risks of third primary cancers of non-breast origin among women with bilateral breast cancer.
    • Kwast AB, Liu L, Roukema JA, Voogd AC, Jobsen JJ, Coebergh JW, Soerjomataram I, Siesling S.
    • Br J Cancer. 2012 Jul 24;107(3):549-55. doi: 10.1038/bjc.2012.270. Epub 2012 Jun 19.
    • Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).
    • Lecarpentier J, Noguès C, Mouret-Fourme E, Gauthier-Villars M, Lasset C, Fricker JP, Caron O, Stoppa-Lyonnet D, Berthet P, Faivre L, Bonadona V, Buecher B, Coupier I, Gladieff L, Gesta P, Eisinger F, Frénay M, Luporsi E, Lortholary A, Colas C, Dugast C, Longy M, Pujol P, Tinat J; GENEPSO, Lidereau R, Andrieu N.
    • Breast Cancer Res. 2012 Jul 3;14(4):R99. doi: 10.1186/bcr3218.
    • The risk of breast cancer in women with a BRCA1 mutation from North America and Poland.
    • Lubinski J, Huzarski T, Byrski T, Lynch HT, Cybulski C, Ghadirian P, Stawicka M, Foulkes WD, Kilar E, Kim-Sing C, Neuhausen SL, Armel S, Gilchrist D, Sweet K, Gronwald J, Eisen A, Gorski B, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Int J Cancer. 2012 Jul 1;131(1):229-34. doi: 10.1002/ijc.26369. Epub 2011 Sep 22.
    • Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.
    • Fostira F, Tsitlaidou M, Papadimitriou C, Pertesi M, Timotheadou E, Stavropoulou AV, Glentis S, Bournakis E, Bobos M, Pectasides D, Papakostas P, Pentheroudakis G, Gogas H, Skarlos P, Samantas E, Bafaloukos D, Kosmidis PA, Koutras A, Yannoukakos D, Konstantopoulou I, Fountzilas G.
    • Breast Cancer Res Treat. 2012 Jul;134(1):353-62. doi: 10.1007/s10549-012-2021-9. Epub 2012 Mar 21.
    • Plasma micronutrients, trace elements, and breast cancer in BRCA1 mutation carriers: an exploratory study.
    • Kotsopoulos J, Sukiennicki G, Muszyńska M, Gackowski D, Kąklewski K, Durda K, Jaworska K, Huzarski T, Gronwald J, Byrski T, Ashuryk O, Dębniak T, Tołoczko-Grabarek A, Stawicka M, Godlewski D, Oliński R, Jakubowska A, Narod SA, Lubinski J.
    • Cancer Causes Control. 2012 Jul;23(7):1065-74. doi: 10.1007/s10552-012-9975-0. Epub 2012 May 11.
    • A simulation model to predict the impact of prophylactic surgery and screening on the life expectancy of BRCA1 and BRCA2 mutation carriers.
    • Sigal BM, Munoz DF, Kurian AW, Plevritis SK.
    • Cancer Epidemiol Biomarkers Prev. 2012 Jul;21(7):1066-77. doi: 10.1158/1055-9965.EPI-12-0149. Epub 2012 May 3.
    • Oophorectomy after menopause and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
    • Kotsopoulos J, Lubinski J, Lynch HT, Kim-Sing C, Neuhausen S, Demsky R, Foulkes WD, Ghadirian P, Tung N, Ainsworth P, Senter L, Karlan B, Eisen A, Eng C, Weitzel J, Gilchrist DM, Blum JL, Zakalik D, Singer C, Fallen T, Ginsburg O, Huzarski T, Sun P, Narod SA.
    • Cancer Epidemiol Biomarkers Prev. 2012 Jul;21(7):1089-96. doi: 10.1158/1055-9965.EPI-12-0201. Epub 2012 May 7.

    Comment, Letter:

    Oophorectomy and breast cancer in BRCA mutation carriers--letter.

    • Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study.
    • Son BH, Ahn SH, Kim SW, Kang E, Park SK, Lee MH, Noh WC, Kim LS, Jung Y, Kim KS, Noh DY, Moon BI, Suh YJ, Lee JE, Choi DH, Kim SY, Jung SH, Yom CK, Lee H, Yang JH; KOHBRA Research Group and Korean Breast Cancer Society.
    • Breast Cancer Res Treat. 2012 Jun;133(3):1143-52. doi: 10.1007/s10549-012-2001-0. Epub 2012 Mar 2.
    • Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening.
    • Metcalfe KA, Mian N, Enmore M, Poll A, Llacuachaqui M, Nanda S, Sun P, Hughes KS, Narod SA.
    • Breast Cancer Res Treat. 2012 Jun;133(2):735-40. doi: 10.1007/s10549-011-1941-0. Epub 2012 Jan 13.
    • BRCA2 mutations and triple-negative breast cancer.
    • Meyer P, Landgraf K, Högel B, Eiermann W, Ataseven B.
    • PLoS One. 2012;7(5):e38361. doi: 10.1371/journal.pone.0038361. Epub 2012 May 30.
    • Initiation, evolution, phenotype and outcome of BRCA1 and BRCA2 mutation-associated breast cancer.
    • Yu KD, Shao ZM.
    • Nat Rev Cancer. 2012 May 24;12(5):372-3. doi: 10.1038/nrc3181-c1.
    • Letter
    • BRCA1 and BRCA2: important differences with common interests.
    • Roy R, Chun J, Powell SN.
    • Nat Rev Cancer. 2012 May 24;12(5):372. doi: 10.1038/nrc3181-c3.
    • Letter
    • Risk factors for breast cancer for women aged 40 to 49 years: a systematic review and meta-analysis.
    • Nelson HD, Zakher B, Cantor A, Fu R, Griffin J, O'Meara ES, Buist DS, Kerlikowske K, van Ravesteyn NT, Trentham-Dietz A, Mandelblatt JS, Miglioretti DL.
    • Ann Intern Med. 2012 May 1;156(9):635-48. doi: 10.7326/0003-4819-156-9-201205010-00006.

    Comment, Editorial:

    Risk-based mammography screening: an effort to maximize the benefits and minimize the harms.

    News:

    Studies support risk-based mammography screening.

    • Changes in the expression of plasma proteins associated with thrombosis in BRCA1 mutation carriers.
    • Custodio A, López-Farré AJ, Zamorano-León JJ, Mateos-Cáceres PJ, Macaya C, Caldés T, de la Hoya M, Olivera E, Puente J, Díaz-Rubio E, Pérez-Segura P.
    • J Cancer Res Clin Oncol. 2012 May;138(5):867-75. doi: 10.1007/s00432-012-1161-y. Epub 2012 Feb 7.
    • 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
    • Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
    • Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS, Shoretz R, Singer CF, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder C, Garber JE, Schildkraut J, Daly MB, Isaacs C, Pichert G, Neuhausen SL, Couch FJ, van't Veer L, Eeles R, Bancroft E, Evans DG, Ganz PA, Tomlinson GE, Narod SA, Matloff E, Domchek S, Rebbeck TR.
    • J Clin Oncol. 2012 Apr 20;30(12):1321-8. doi: 10.1200/JCO.2011.37.8133. Epub 2012 Mar 19.
    • 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.
    • Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.
    • Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, Ariffin H, Thong MK, Chin KF, Mohd Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Apr 16;14(2):R66.
    • Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer.
    • Zhang J, Pei R, Pang Z, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Breast Cancer Res Treat. 2012 Apr;132(2):421-8. doi: 10.1007/s10549-011-1596-x. Epub 2011 May 26.
    • Increased risk for distant metastasis in patients with familial early-stage breast cancer and high EZH2 expression.
    • Alford SH, Toy K, Merajver SD, Kleer CG.
    • Breast Cancer Res Treat. 2012 Apr;132(2):429-37. doi: 10.1007/s10549-011-1591-2. Epub 2011 May 26.
    • Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
    • Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL; OCGN, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P; SWE-BRCA, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB; HEBON, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE; EMBRACE, Bove B, Godwin AK, Stoppa-Lyonnet D; GEMO Study Collaborators, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, 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, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G; kConFab investigators, Offit K, Simard J; Consortium of Investigators of Modifiers of BRCA1/2.
    • Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):645-57. doi: 10.1158/1055-9965.EPI-11-0888. Epub 2012 Feb 20.
    • 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.
    • Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.
    • Bayraktar S, Elsayegh N, Gutierrez Barrera AM, Lin H, Kuerer H, Tasbas T, Muse KI, Ready K, Litton J, Meric-Bernstam F, Hortobagyi GN, Albarracin CT, Arun B.
    • Cancer. 2012 Mar 15;118(6):1515-22. doi: 10.1002/cncr.26428. Epub 2011 Aug 25.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Does anyone have a good reference for the occurence of DCIS in hereditary cancer syndromes?

    • Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population.
    • de Juan Jiménez I, Esteban Cardeñosa E, Palanca Suela S, Barragán González E, Aznar Carretero I, Munárriz Gandía B, Santaballa Bertran A, Torregrosa Maicas MD, Guillén Ponce C, Sánchez Heras AB, Bayón Lara A, Fuster Lluch O, Bolufer Gilabert P.
    • Fam Cancer. 2012 Mar;11(1):49-56. doi: 10.1007/s10689-011-9481-7.
    • BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.
    • Keshavarzi F, Javadi GR, Zeinali S.
    • Fam Cancer. 2012 Mar;11(1):57-67. doi: 10.1007/s10689-011-9477-3.
    • 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.
    • Online tool to guide decisions for BRCA1/2 mutation carriers.
    • Kurian AW, Munoz DF, Rust P, Schackmann EA, Smith M, Clarke L, Mills MA, Plevritis SK.
    • J Clin Oncol. 2012 Feb 10;30(5):497-506. doi: 10.1200/JCO.2011.38.6060. Epub 2012 Jan 9.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: An Online BRCA Positive Decision Guidance Tool.

    Comment:

    Are we ready for online tools in decision making for BRCA1/2 mutation carriers?

    Press: Are We Ready for Online Tools in Decision Making for BRCA1/2 Mutation Carriers? (Journal of Clinical Oncology)

    Press: Online tool helps those with BRCA mutations understand options. (Medical Xpress)

    • Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
    • De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, Stragier B, Vanhoutte I, De Paepe A, Poppe B, Claes K.
    • Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7.
    • Appendectomy and cancer risk in Jewish BRCA1 and BRCA2 mutation carriers.
    • Bernholtz S, Jakobson-Setton A, Korach J, Ben Baruch G, Laitman Y, Friedman E.
    • Breast Cancer Res Treat. 2012 Feb;131(3):981-5. doi: 10.1007/s10549-011-1807-5. Epub 2011 Oct 9.
    • BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.
    • Rodríguez AO, Llacuachaqui M, Pardo GG, Royer R, Larson G, Weitzel JN, Narod SA.
    • Gynecol Oncol. 2012 Feb;124(2):236-43. doi: 10.1016/j.ygyno.2011.10.027. Epub 2011 Oct 29.
    • Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.
    • Kuo WH, Lin PH, Huang AC, Chien YH, Liu TP, Lu YS, Bai LY, Sargeant AM, Lin CH, Cheng AL, Hsieh FJ, Hwu WL, Chang KJ.
    • J Hum Genet. 2012 Feb;57(2):130-8. doi: 10.1038/jhg.2011.142. Epub 2012 Jan 26.
    • 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.
    • 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.
    • BRCA 1 & 2 mutations in Sudanese secondary school girls with known breast cancer in their families.
    • Elnour AM, Elderdery AY, Mills J, Mohammed BA, Elbietabdelaal D, Mohamed AO, Elhassan KE, A AH, Wahab A, Cooper A.
    • Int J Health Sci (Qassim). 2012 Jan;6(1):63-71.