• 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. eCollection 2018 Dec.

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    Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.

    • 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.
    • Johnson RH, Anders CK, Litton JK, Ruddy KJ, Bleyer A.
    • Pediatr Blood Cancer. 2018 Dec;65(12):e27397. doi: 10.1002/pbc.27397. Epub 2018 Aug 28.
    • 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.
    • Cancer Manag Res. 2018 Nov 30;10:6505-6516. doi: 10.2147/CMAR.S186563. eCollection 2018.
    • Screening BRCA1 and BRCA2 Mutation Carriers for Breast Cancer.
    • Warner E.
    • Cancers (Basel). 2018 Nov 30;10(12). pii: E477. doi: 10.3390/cancers10120477.
    • 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. 2018 Nov 23. doi: 10.1093/annonc/mdy515. [Epub ahead of print]
    • Differential Burden of Rare and Common Variants on Tumor Characteristics, Survival, and Mode of Detection in Breast Cancer.
    • Li J, Ugalde-Morales E, Wen WX, Decker B, Eriksson M, Torstensson A, Christensen HN, Dunning AM, Allen J, Luccarini C, Pooley KA, Simard J, Dorling L, Easton DF, Teo SH, Hall P, Czene K.
    • Cancer Res. 2018 Nov 1;78(21):6329-6338. doi: 10.1158/0008-5472.CAN-18-1018.
    • The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
    • Barnes-Kedar I, Bernstein-Molho R, Ginzach N, Hartmajer S, Shapira T, Magal N, Kalis ML, Peretz T, Shohat M, Basel-Salmon L, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2018 Nov;172(1):151-157. doi: 10.1007/s10549-018-4887-7. Epub 2018 Jul 16.
    • 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.
    • J Clin Oncol. 2018 Oct 19:JCO1800328. doi: 10.1200/JCO.18.00328. [Epub ahead of print]
    • Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
    • Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.
    • Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.
    • Menopausal Status and Outcomes of BRCA Mutation Carriers with Breast Cancer.
    • Carlson K, Chung A, Mirocha J, Donovan C, Estrada S, Siegel E, Giuliano A, Amersi F.
    • Am Surg. 2018 Oct 1;84(10):1584-1588.
    • Associations between RAD51D germline mutations and breast cancer risk and survival in BRCA1/2-negative breast cancers.
    • Chen X, Li Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Ann Oncol. 2018 Oct 1;29(10):2046-2051. doi: 10.1093/annonc/mdy338.
    • Inherited Breast Cancer in Nigerian Women.
    • Zheng Y, Walsh T, Gulsuner S, Casadei S, Lee MK, Ogundiran TO, Ademola A, Falusi AG, Adebamowo CA, Oluwasola AO, Adeoye A, Odetunde A, Babalola CP, Ojengbede OA, Odedina S, Anetor I, Wang S, Huo D, Yoshimatsu TF, Zhang J, Felix GES, King MC, Olopade OI.
    • J Clin Oncol. 2018 Oct 1;36(28):2820-2825. doi: 10.1200/JCO.2018.78.3977. Epub 2018 Aug 21.

    Related:

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

    • PALB2 germ-line mutations in Russian breast cancer patients: Identification of recurrent alleles and analysis of phenotypic characteristics of the tumors.
    • Imyanitov EN, Preobrazhenskaya EV, Shlejkina AY, Sokolenko AP, Anisimova EI, Ivantsov AO, Togo AV.
    • Ann Oncol. 2018 Oct;29 Suppl 8:viii76. doi: 10.1093/annonc/mdy270.234.
    • Conference abstract
    • [The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].
    • Moretta J, Berthet P, Bonadona V, Caron O, Cohen-Haguenauer O, Colas C, Corsini C, Cusin V, De Pauw A, Delnatte C, Dussart S, Jamain C, Longy M, Luporsi E, Maugard C, Nguyen TD, Pujol P, Vaur D, Andrieu N, Lasset C, Noguès C; Groupe Génétique et Cancer d’Unicancer.
    • Bull Cancer. 2018 Oct;105(10):907-917. doi: 10.1016/j.bulcan.2018.08.003. Epub 2018 Sep 27.
    • Practice Guideline, [Article in French]
    • Impact of BRCA Mutation Status on Survival of Women With Triple-negative Breast Cancer.
    • Yadav S, Ladkany R, Yadav D, Alhalabi O, Khaddam S, Isaac D, Cardenas PY, Zakalik D.
    • Clin Breast Cancer. 2018 Oct;18(5):e1229-e1235. doi: 10.1016/j.clbc.2017.12.014. Epub 2017 Dec 30.
    • Breast cancer in transgender patients: A systematic review. Part 1: Male to female.
    • Hartley RL, Stone JP, Temple-Oberle C.
    • Eur J Surg Oncol. 2018 Oct;44(10):1455-1462. doi: 10.1016/j.ejso.2018.06.035. Epub 2018 Jul 25.
    • Review
    • Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing.
    • Dong L, Wu N, Wang S, Cheng Y, Han L, Zhao J, Long X, Mu K, Li M, Wei L, Wang W, Zhang W, Cao Y, Liu J, Yu J, Hao X.
    • Hum Mutat. 2018 Oct;39(10):1442-1455. doi: 10.1002/humu.23597. Epub 2018 Aug 2.
    • 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.

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    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.

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    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.
    • Weiss A, Garber JE, King T.
    • 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]

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    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.

    Related:

    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 M, Garbowicz M, Klukowski M, Wojciechowicz J.
    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • 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

    Related:

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

    Letter, Reply:

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

    • 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.
    • Long J, Evans TG, Bailey D, Lewis MH, Gower-Thomas K, Murray A.
    • 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.
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    • Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations.
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    Related:

    Next generation sequencing is informing phenotype: a TP53 example.

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    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

    Related:

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

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

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    • Review
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    • Promoter Methylation of BRCA1, DAPK1 and RASSF1A is Associated with Increased Mortality among Indian Women with Breast Cancer.
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    • Survival and mutation status in breast cancer patients under age 40.
    • [No author given]
    • FORCE. XRAYS. 2018 Feb 15.

    Related:

    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?

    • Male BRCA mutation carriers: clinical characteristics and cancer spectrum.
    • Ibrahim M, Yadav S, Ogunleye F, Zakalik D.
    • BMC Cancer. 2018 Feb 13;18(1):179. doi: 10.1186/s12885-018-4098-y.
    • Patient-Centered Care in Breast Cancer Genetic Clinics.
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    • Int J Environ Res Public Health. 2018 Feb 12;15(2). pii: E319. doi: 10.3390/ijerph15020319.
    • Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan.
    • Abdel-Razeq H, Al-Omari A, Zahran F, Arun B.
    • BMC Cancer. 2018 Feb 6;18(1):152. doi: 10.1186/s12885-018-4079-1.
    • Breast and ovarian cancer penetrance of BRCA1/2 mutations among Hong Kong women.
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    • Should biannual MRIs replace annual mammograms in high-risk women?
    • [No author given]
    • FORCE. XRAYS. 2018 Feb 1.

    Related:

    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)

    • BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.
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    • Breast Cancer Res Treat. 2018 Feb;168(1):117-126. doi: 10.1007/s10549-017-4584-y. Epub 2017 Nov 21.
    • BRCA1 deficiency is a recurrent event in early-onset triple-negative breast cancer: a comprehensive analysis of germline mutations and somatic promoter methylation.
    • Brianese RC, Nakamura KDM, Almeida FGDSR, Ramalho RF, Barros BDF, Ferreira ENE, Formiga MNDC, de Andrade VP, de Lima VCC, Carraro DM.
    • Breast Cancer Res Treat. 2018 Feb;167(3):803-814. doi: 10.1007/s10549-017-4552-6. Epub 2017 Nov 7.
    • Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.
    • Nakagomi H, Mochizuki H, Inoue M, Hirotsu Y, Amemiya K, Sakamoto I, Nakagomi S, Kubota T, Omata M.
    • Cancer Sci. 2018 Feb;109(2):453-461. doi: 10.1111/cas.13464. Epub 2018 Jan 17.
    • Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
    • Copson ER, Maishman TC, Tapper WJ, Cutress RI, Greville-Heygate S, Altman DG, Eccles B, Gerty S, Durcan LT, Jones L, Evans DG, Thompson AM, Pharoah P, Easton DF, Dunning AM, Hanby A, Lakhani S, Eeles R, Gilbert FJ, Hamed H, Hodgson S, Simmonds P, Stanton L, Eccles DM.
    • Lancet Oncol. 2018 Feb;19(2):169-180. doi: 10.1016/S1470-2045(17)30891-4. Epub 2018 Jan 11.

    Related:

    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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    • Factors associated with false positive results on screening mammography in a population of predominantly Hispanic women.
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    • Gene aberration profile of tumors of adolescent and young adult females.
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    • Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.
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    • Biannual MRI Better Than Annual Mammogram at Detecting Breast Cancer in High-risk Women, Study Finds.
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    Research News: Should biannual MRIs replace annual mammograms in high-risk women? (FORCE, XRAYS)

    • Characterization of basal-like subtype in a Danish consecutive primary breast cancer cohort.
    • Kinalis S, Nielsen FC, Talman ML, Ejlertsen B, Rossing M.
    • Acta Oncol. 2018 Jan;57(1):51-57. doi: 10.1080/0284186X.2017.1398837. Epub 2017 Nov 22.
    • Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG.
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    • Acta Oncol. 2018 Jan;57(1):95-101. doi: 10.1080/0284186X.2017.1398415. Epub 2017 Nov 22.
    • The expected benefit of preventive mastectomy on breast cancer incidence and mortality in BRCA mutation carriers, by age at mastectomy.
    • Giannakeas V, Narod SA.
    • Breast Cancer Res Treat. 2018 Jan;167(1):263-267. doi: 10.1007/s10549-017-4476-1. Epub 2017 Sep 15.
    • A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another.
    • Gieldon L, Wagner J, Rump A.
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    • Letter, Case report
    • A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
    • Cock-Rada AM, Ossa CA, Garcia HI, Gomez LR.
    • Fam Cancer. 2018 Jan;17(1):23-30. doi: 10.1007/s10689-017-0004-z.
    • Abnormal Findings Detected by Multi-modality Breast Imaging and Biopsy Results in a High-risk Clinic.
    • Laitman Y, Feldman DM, Sklair-Levy M, Yosepovich A, Barshack-Nakar I, Brodsky M, Halshtok O, Shalmon A, Gotlieb M, Friedman E.
    • Clin Breast Cancer. 2017 Dec 11. pii: S1526-8209(17)30559-1. doi: 10.1016/j.clbc.2017.12.005. [Epub ahead of print]
    • For women with genetic risk, semi-annual MRI beats mammograms.
    • [No author given.]
    • ScienceDaily. 2017 Dec 11.

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    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.

    Related:

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

    Letter:

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

    Letter, Reply:

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

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

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

    • Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.
    • Schoolmeester JK, Moyer AM, Goodenberger ML, Keeney GL, Carter JM, Bakkum-Gamez JN.
    • Hum Pathol. 2017 Dec;70:14-26. doi: 10.1016/j.humpath.2017.06.018. Epub 2017 Jul 12
    • BRCA1 germline mutations dominate familial breast cancer patients in Henan China.
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    • J Thorac Dis. 2017 Dec;9(12):5295-5299. doi: 10.21037/jtd.2017.11.71.
    • Breast cancer cases of female patients under 35 years of age in Togo: A series of 158 cases.
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    Related:

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    • BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.
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    • The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier.
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    • A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer.
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    • Telomere Length Is Predictive of Breast Cancer Risk in BRCA2 Mutation Carriers.
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    • J Clin Oncol. 2017 Jul 10;35(20):2240-2250. doi: 10.1200/JCO.2016.69.4935. Epub 2017 Apr 27.

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    Editorial:

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

    • Ductal Carcinoma in situ Detected during Prospective MR Imaging Screening of a Woman with a BRCA2 Mutation: The First Case Report in Japan.
    • Tozaki M, Nakamura S, Kitagawa D, Iwase T, Horii R, Akiyama F, Arai M.
    • Magn Reson Med Sci. 2017 Jul 10;16(3):265-269. doi: 10.2463/mrms.cr.2016-0090. Epub 2017 Jan 13.
    • Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.
    • Torres D, Bermejo JL, Rashid MU, Briceño I, Gil F, Beltran A, Ariza V, Hamann U.
    • Sci Rep. 2017 Jul 5;7(1):4713. doi: 10.1038/s41598-017-05056-y.
    • The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.
    • Lang GT, Shi JX, Hu X, Zhang CH, Shan L, Song CG, Zhuang ZG, Cao AY, Ling H, Yu KD, Shan L, Sun MH, Zhou XY, Huang W, Shao ZM.
    • Int J Cancer. 2017 Jul 1;141(1):129-142. doi: 10.1002/ijc.30692. Epub 2017 Apr 25.
    • Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.
    • Kuchenbaecker KB, McGuffog L, Barrowdale D, Lee A, Soucy P, Dennis J, Domchek SM, Robson M, Spurdle AB, Ramus SJ, Mavaddat N, Terry MB, Neuhausen SL, Schmutzler RK, Simard J, Pharoah PD, Offit K, Couch FJ, Chenevix-Trench G, Easton DF, Antoniou AC.
    • J Natl Cancer Inst. 2017 Jul 1;109(7). doi: 10.1093/jnci/djw302.
    • Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients.
    • De Silva S, Tennekoon KH, Dissanayake A, De Silva K, Jayasekara L.
    • Fam Cancer. 2017 Jul;16(3):329-338. doi: 10.1007/s10689-016-9962-9.
    • Managing hereditary breast cancer risk in women with and without ovarian cancer.
    • Peters ML, Garber JE, Tung N.
    • Gynecol Oncol. 2017 Jul;146(1):205-214. doi: 10.1016/j.ygyno.2017.04.013. Epub 2017 Apr 25.
    • Review
    • Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women.
    • Kurian AW, Hughes E, Handorf EA, Gutin A, Allen B, Hartman AR, Hall MJ.
    • JCO Precis Oncol. 2017 Nov [Epub 2017 Jun 27];1:1-12. doi: 10.1200/PO.16.00066.
    • Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.
    • Grindedal EM, Heramb C, Karsrud I, Ariansen SL, Mæhle L, Undlien DE, Norum J, Schlichting E.
    • BMC Cancer. 2017 Jun 21;17(1):438. doi: 10.1186/s12885-017-3422-2.
    • Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
    • Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC; and the BRCA1 and BRCA2 Cohort Consortium, McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H./li>
    • JAMA. 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112.

    Related:

    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)

    • BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
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    • Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.
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    • Expression of Nestin associates with BRCA1 mutations, a basal-like phenotype and aggressive breast cancer.
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    • Sci Rep. 2017 Apr 24;7(1):1089. doi: 10.1038/s41598-017-00862-w.
    • Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.
    • Ricks-Santi L, McDonald JT, Gold B, Dean M, Thompson N, Abbas M, Wilson B, Kanaan Y, Naab TJ, Dunston G.
    • Ethn Dis. 2017 Apr 20;27(2):169-178. doi: 10.18865/ed.27.2.169. eCollection 2017 Spring.
    • Examining the common aetiology of serous ovarian cancers and basal-like breast cancers using double primaries.
    • Begg CB, Rice MS, Zabor EC, Tworoger SS.
    • Br J Cancer. 2017 Apr 11;116(8):1088-1091. doi: 10.1038/bjc.2017.73. Epub 2017 Mar 23.
    • BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.
    • Zuntini R, Cortesi L, Calistri D, Pippucci T, Luigi Martelli P, Casadio R, Capizzi E, Santini D, Miccoli S, Medici V, Danesi R, Marchi I, Zampiga V, Fiorentino M, Ferrari S, Turchetti D.
    • Oncotarget. 2017 Apr 4;8(14):22640-22648. doi: 10.18632/oncotarget.15151.
    • Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients.
    • Eoh KJ, Park HS, Park JS, Lee ST, Han J, Lee JY, Kim SW, Kim S, Kim YT, Nam EJ.
    • Cancer Res Treat. 2017 Apr;49(2):408-415. doi: 10.4143/crt.2016.135. Epub 2016 Jul 27.
    • A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene.
    • Sirisena ND, Gautam B, Dissanayake ND, Dissanayake VH.
    • Ceylon Med J. 2017 Mar 31;62(1):65-66. doi: 10.4038/cmj.v62i1.8437.
    • Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry.
    • Walker LC, Pearson JF, Wiggins GA, Giles GG, Hopper JL, Southey MC.
    • Breast Cancer Res. 2017 Mar 16;19(1):30. doi: 10.1186/s13058-017-0825-6.
    • The impact of reproductive life on breast cancer risk in women with family history or BRCA mutation.
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    • Oncotarget. 2017 Feb 7;8(6):9144-9154. doi: 10.18632/oncotarget.13423.
    • Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
    • Pritzlaff M, Summerour P, McFarland R, Li S, Reineke P, Dolinsky JS, Goldgar DE, Shimelis H, Couch FJ, Chao EC, LaDuca H.
    • Breast Cancer Res Treat. 2017 Feb;161(3):575-586. doi: 10.1007/s10549-016-4085-4. Epub 2016 Dec 22.
    • Genetic and epigenetic characterization of the BRCA1 gene in Brazilian women at-risk for hereditary breast cancer.
    • Felicio PS, Melendez ME, Arantes LM, Kerr LM, Carraro DM, Grasel RS, Campacci N, Scapulatempo-Neto C, Fernandes GC, de Carvalho AC, Palmero EI.
    • Oncotarget. 2017 Jan 10;8(2):2850-2862. doi: 10.18632/oncotarget.13750.
    • Plasma osteoprotegerin and breast cancer risk in BRCA1 and BRCA2 mutation carriers.
    • Odén L, Akbari M, Zaman T, Singer CF, Sun P, Narod SA, Salmena L, Kotsopoulos J.
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    • Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.
    • Lee AJ, Cunningham AP, Tischkowitz M, Simard J, Pharoah PD, Easton DF, Antoniou AC.
    • Genet Med. 2016 Dec;18(12):1190-1198. doi: 10.1038/gim.2016.31. Epub 2016 Apr 14.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: PALB2 breast cancer recurrence

    Subject: article request

    • Disease evolution and heterogeneity in bilateral breast cancer.
    • Fountzilas E, Kotoula V, Zagouri F, Giannoulatou E, Kouvatseas G, Pentheroudakis G, Koletsa T, Bobos M, Papadopoulou K, Samantas E, Demiri E, Miliaras S, Christodoulou C, Chrisafi S, Razis E, Fostira F, Pectasides D, Zografos G, Fountzilas G.
    • Am J Cancer Res. 2016 Nov 1;6(11):2611-2630. eCollection 2016.
    • Plasma folate, vitamin B-6, and vitamin B-12 and breast cancer risk in BRCA1- and BRCA2-mutation carriers: a prospective study.
    • Kim SJ, Zuchniak A, Sohn KJ, Lubinski J, Demsky R, Eisen A, Akbari MR, Kim YI, Narod SA, Kotsopoulos J.
    • Am J Clin Nutr. 2016 Sep;104(3):671-7. doi: 10.3945/ajcn.116.133470. Epub 2016 Jul 27.
    • Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests one third of mutations are somatic.
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    • Comprehensive analysis of BRCA1 and BRCA2 germline mutations in a large cohort of 5931 Chinese women with breast cancer.
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    • Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers.
    • Vos JR, Oosterwijk JC, Aalfs CM, Rookus MA, Adank MA, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Mensenkamp AR, Jager A, Ausems MG, Mourits MJ, de Bock GH; Hereditary Breast and Ovarian Cancer Research Group Netherlands.
    • Cancer Epidemiol Biomarkers Prev. 2016 Aug;25(8):1251-8. doi: 10.1158/1055-9965.EPI-16-0182. Epub 2016 Jun 8.
    • Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers.
    • Streff H, Profato J, Ye Y, Nebgen D, Peterson SK, Singletary C, Arun BK, Litton JK.
    • Oncologist. 2016 Jul;21(7):869-74. doi: 10.1634/theoncologist.2015-0354. Epub 2016 Jun 15.
    • Genetic anticipation in BRCA1/BRCA2 families after controlling for ascertainment bias and cohort effect.
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    • Cancer. 2016 Jun 15;122(12):1913-20. doi: 10.1002/cncr.29972. Epub 2016 Mar 15.
    • [BRCA1/2 gene mutation and clinicopathologic features of triple negative breast cancer].
    • Ma ZP, Wang W, Zhang W.
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    • Exclusive: Breast cancer gene database gives clearer picture of risk.
    • Susan Miller.
    • USA Today. 2016 Jun 1.
    • Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.
    • Palmero EI, Alemar B, Schüler-Faccini L, Hainaut P, Moreira-Filho CA, Ewald IP, Santos PK, Ribeiro , Oliveira Netto CB, Kelm FL, Tavtigian S, Cossio SL, Giugliani R, Caleffi M, Ashton-Prolla P.
    • Genet Mol Biol. 2016 May 24;39(2):210-22. doi: 10.1590/1678-4685-GMB-2014-0363.
    • Triple negative status and BRCA mutations in contralateral breast cancer: a population-based study.
    • Pellegrino B, Bella M, Michiara M, Zanelli P, Naldi N, Porzio R, Bortesi B, Boggiani D, Zanoni D, Camisa R, Neri TM, Pinto C, Musolino A.
    • Acta Biomed. 2016 May 6;87(1):54-63.
    • Profiling of Cross-Functional Peptidases Regulated Circulating Peptides in BRCA1 Mutant Breast Cancer.
    • Fan J, Tea MK, Yang C, Ma L, Meng QH, Hu TY, Singer CF, Ferrari M.
    • J Proteome Res. 2016 May 6;15(5):1534-45. doi: 10.1021/acs.jproteome.6b00010. Epub 2016 Apr 26.
    • Interaction between Hormonal Receptor Status, Age and Survival in Patients with BRCA1/2 Germline Mutations: A Systematic Review and Meta-Regression.
    • Templeton AJ, Gonzalez LD, Vera-Badillo FE, Tibau A, Goldstein R, Šeruga B, Srikanthan A, Pandiella A, Amir E, Ocana A.
    • PLoS One. 2016 May 5;11(5):e0154789. doi: 10.1371/journal.pone.0154789. eCollection 2016.
    • Women's Health Issues for BRCA Mutation Carriers.
    • Sabatini ME, Ellisen LW.
    • Am Soc Clin Oncol Educ Book. 2016 May;(36):14-17. doi: 10.1200/EDBK_100001.
    • Clinical and pathological features of BRCA1/2 tumors in a sample of high-risk Moroccan breast cancer patients.
    • Jouhadi H, Tazzite A, Azeddoug H, Naim A, Nadifi S, Benider A.
    • BMC Res Notes. 2016 Apr 29;9(1):248. doi: 10.1186/s13104-016-2057-8.
    • Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: Differences based on germline mutation status.
    • Shah PD, Patil S, Dickler MN, Offit K, Hudis CA, Robson ME.
    • Cancer. 2016 Apr 15;122(8):1178-1184. doi: 10.1002/cncr.29903. Epub 2016 Feb 9.
    • Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality.
    • Evans DG, Harkness EF, Howell A, Wilson M, Hurley E, Holmen MM, Tharmaratnam KU, Hagen AI, Lim Y, Maxwell AJ, Moller P.
    • Hered Cancer Clin Pract. 2016 Apr 14;14:8. doi: 10.1186/s13053-016-0048-3. eCollection 2016.
    • Breast cancer risk in Chinese women with BRCA1 or BRCA2 mutations.
    • 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.

    Related:

    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

    Related:

    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

    Related:

    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.

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    • Patterns of changing cancer risks with time since diagnosis of a sibling.
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    • 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.

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    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.

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    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

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    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.

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 Positive Patients and Oral Contraceptive Usage

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    • 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.

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    • 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.

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    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

    Related:

    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.

    Related:

    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.

    Related:

    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.

    Related:

    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.

    Related:

    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

    Related:

    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.

    Related:

    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.

    Related:

    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.

    Related:

    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.

    Related:

    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.

    Related:

    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.
    • Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.
    • Zhou J, Wang H, Fu F, Li Z, Feng Q, Wu W, Liu Y, Wang C, Chen Y.
    • Cancer. 2020 Apr 27. doi: 10.1002/cncr.32905. [Epub ahead of print]
    • 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.
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    • Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.
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    Related:

    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.

    Related:

    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.