Mutation Spectrum ~ Triple Negative Breast Cancer
~ Genetics of Breast & Ovarian Cancer

Germline mutations/associations (of and beyond BRCA1/2) underlying TNBC

List was last updated on Nov 27, 2019 @ 7:02 am.


    • Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.
    • Wu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Breast Cancer Res Treat. 2019 Nov 25. doi: 10.1007/s10549-019-05483-7. [Epub ahead of print]
    • Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39.
    • Kuligina ES, Sokolenko AP, Bizin IV, Romanko AA, Zagorodnev KA, Anisimova MO, Krylova DD, Anisimova EI, Mantseva MA, Varma AK, Hasan SK, Ni VI, Koloskov AV, Suspitsin EN, Venina AR, Aleksakhina SN, Sokolova TN, Milanović AM, Schürmann P, Prokofyeva DS, Bermisheva MA, Khusnutdinova EK, Bogdanova N, Dörk T, Imyanitov EN.
    • Breast Cancer Res Treat. 2019 Nov 21. doi: 10.1007/s10549-019-05492-6. [Epub ahead of print]
    • The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
    • Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM; ABCTB Investigators, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA; GEMO Study Collaborators, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD 3rd, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN; KConFab, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P.
    • NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019.
    • Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study.
    • Staaf J, Glodzik D, Bosch A, Vallon-Christersson J, Reuterswärd C, Häkkinen J, Degasperi A, Amarante TD, Saal LH, Hegardt C, Stobart H, Ehinger A, Larsson C, Rydén L, Loman N, Malmberg M, Kvist A, Ehrencrona H, Davies HR, Borg Å, Nik-Zainal S.
    • Nat Med. 2019 Sep 30. doi: 10.1038/s41591-019-0582-4. [Epub ahead of print]
    • Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients.
    • Fragoso-Ontiveros V, Velázquez-Aragón JA, Nuñez-Martínez PM, de la Luz Mejía-Aguayo M, Vidal-Millán S, Pedroza-Torres A, Sánchez-Contreras Y, Ramírez-Otero MA, Muñiz-Mendoza R, Domínguez-Ortíz J, Wegman-Ostrosky T, Bargalló-Rocha JE, Gallardo-Rincón D, Reynoso-Noveron N, Arriaga-Canon C, Meneses-García A, Herrera-Montalvo LA, Alvarez-Gomez RM.
    • PLoS One. 2019 Sep 23;14(9):e0222709. doi: 10.1371/journal.pone.0222709. eCollection 2019.
    • BRCA1 promoter methylation in peripheral blood is associated with the risk of triple-negative breast cancer.
    • Prajzendanc K, Domagała P, Hybiak J, Ryś J, Huzarski T, Szwiec M, Tomiczek-Szwiec J, Redelbach W, Sejda A, Gronwald J, Kluz T, Wiśniowski R, Cybulski C, Łukomska A, Białkowska K, Sukiennicki G, Kulczycka K, Narod SA, Wojdacz TK, Lubiński J, Jakubowska A.
    • Int J Cancer. 2019 Aug 30. doi: 10.1002/ijc.32655. [Epub ahead of print]
    • Influence of BRCA1 Germline Mutations in the Somatic Mutational Burden of Triple-Negative Breast Cancer.
    • Ferreira EN, Brianese RC, de Almeida RVB, Drummond RD, de Souza JE, da Silva IT, de Souza SJ, Carraro DM.
    • Transl Oncol. 2019 Aug 13;12(11):1453-1460. doi: 10.1016/j.tranon.2019.07.016. [Epub ahead of print]
    • Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.
    • Zayas-Villanueva OA, Campos-Acevedo LD, Lugo-Trampe JJ, Hernández-Barajas D, González-Guerrero JF, Noriega-Iriondo MF, Ramírez-Sánchez IA, Martínez-de-Villarreal LE.
    • BMC Cancer. 2019 Jul 22;19(1):722. doi: 10.1186/s12885-019-5950-4.
    • A Review of the Hereditary Component of Triple Negative Breast Cancer: High- and Moderate-Penetrance Breast Cancer Genes, Low-Penetrance Loci, and the Role of Nontraditional Genetic Elements.
    • Ellsworth DL, Turner CE, Ellsworth RE.
    • J Oncol. 2019 Jul 9;2019:4382606. doi: 10.1155/2019/4382606. eCollection 2019.
    • Hereditary Susceptibility for Triple Negative Breast Cancer Associated With Western Sub-Saharan African Ancestry: Results From an International Surgical Breast Cancer Collaborative.
    • Newman LA, Jenkins B, Chen Y, Oppong JK, Adjei E, Jibril AS, Hoda S, Cheng E, Chitale D, Bensenhaver JM, Awuah B, Bekele M, Abebe E, Kyei I, Aitpillah F, Adinku M, Nathanson SD, Jackson L, Jiagge E, Merajver S, Petersen LF, Proctor E, Gyan KK, Martini R, Kittles R, Davis MB.
    • Ann Surg. 2019 Jul 6. doi: 10.1097/SLA.0000000000003459. [Epub ahead of print]
    • BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.
    • Suszynska M, Kluzniak W, Wokolorczyk D, Jakubowska A, Huzarski T, Gronwald J, Debniak T, Szwiec M, Ratajska M, Klonowska K, Narod S, Bogdanova N, Dörk T, Lubinski J, Cybulski C, Kozlowski P.
    • Cancers (Basel). 2019 May 28;11(6). pii: E740. doi: 10.3390/cancers11060740.
    • Contribution of BRCA1 5382insC mutation in triple negative breast cancer in Tunisia.
    • Mahfoudh W, Bettaieb I, Ghedira R, Snoussi K, Bouzid N, Klayech Z, Gabbouj S, Remadi Y, Hassen E, Bouaouina N, Zakhama A.
    • J Transl Med. 2019 Apr 11;17(1):123. doi: 10.1186/s12967-019-1873-8.
    • Combined tumor sequencing and case/control analyses of RAD51C in breast cancer.
    • Li N, McInerny S, Zethoven M, Cheasley D, Lim BWX, Rowley SM, Devereux L, Grewal N, Ahmadloo S, Byrne D, Lee JEA, Li J, Fox SB, John T, Antill Y, Gorringe KL, James PA, Campbell IG.
    • J Natl Cancer Inst. 2019 Apr 5. pii: djz045. doi: 10.1093/jnci/djz045. [Epub ahead of print]
    • Prevalence of germline variants in inflammatory breast cancer.
    • Rana HQ, Sacca R, Drogan C, Gutierrez S, Schlosnagle E, Regan MM, Speare V, LaDuca H, Dolinsky J, Garber JE, Overmoyer BA.
    • Cancer. 2019 Apr 1. doi: 10.1002/cncr.32062. [Epub ahead of print]
    • Integrating Germline and Somatic Mutation Information for the Discovery of Biomarkers in Triple-Negative Breast Cancer.
    • Wu J, Mamidi TKK, Zhang L, Hicks C.
    • Int J Environ Res Public Health. 2019 Mar 23;16(6). pii: E1055. doi: 10.3390/ijerph16061055.
    • Structural debilitation of mutation G322D associated with MSH2 and their role in triple negative breast cancer.
    • Ramireddy S, Raghuraman P, Sudandiradoss C.
    • J Biomol Struct Dyn. 2019 Feb 26:1-16. doi: 10.1080/07391102.2019.1587512. [Epub ahead of print]
    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
    • Mehemmai C, Cherbal F, Hamdi Y, Guedioura A, Benbrahim W, Bakour R, Abdelhak S.
    • Pathol Oncol Res. 2019 Feb 4. doi: 10.1007/s12253-019-00586-4. [Epub ahead of print]
    • Evaluation of the BRCAness phenotype and its correlations with clinicopathological features in triple-negative breast cancers.
    • Tian T, Shan L, Yang W, Zhou X, Shui R.
    • Hum Pathol. 2019 Feb;84:231-238. doi: 10.1016/j.humpath.2018.10.004. Epub 2018 Oct 16.
    • Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.
    • Yi D, Xu L, Luo J, You X, Huang T, Zi Y, Li X, Wang R, Zhong Z, Tang X, Li A, Shi Y, Rao J, Zhang Y, Sang J.
    • Hum Genomics. 2019 Jan 10;13(1):4. doi: 10.1186/s40246-018-0186-y.
    • Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish Population.
    • Geredeli C, Yasar N, Sakin A.
    • Int J Breast Cancer. 2019 Jan 1;2019:9645147. doi: 10.1155/2019/9645147. eCollection 2019.
    • Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea.
    • Ryu JM, Choi HJ, Kim I, Nam SJ, Kim SW, Yu J, Lee SK, Choi DH, Park YH, Kim JW, Seo JS, Park JH, Lee JE, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • Breast Cancer Res Treat. 2019 Jan;173(2):385-395. doi: 10.1007/s10549-018-5015-4. Epub 2018 Oct 22.
    • Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation.
    • El Tannouri R, Albuisson E, Jonveaux P, Luporsi E.
    • Fam Cancer. 2019 Jan;18(1):1-8. doi: 10.1007/s10689-018-0079-1.
    • A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.
    • de Souza Timoteo AR, Gonçalves AÉMM, Sales LAP, Albuquerque BM, de Souza JES, de Moura PCP, de Aquino MAA, Agnez-Lima LF, Lajus TBP.
    • Breast Cancer Res Treat. 2018 Dec;172(3):637-646. doi: 10.1007/s10549-018-4938-0. Epub 2018 Aug 29.
    • Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
    • Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.
    • Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.
    • 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.

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

    • Genetic Markers in Triple-Negative Breast Cancer.
    • Sporikova Z, Koudelakova V, Trojanec R, Hajduch M.
    • Clin Breast Cancer. 2018 Oct;18(5):e841-e850. doi: 10.1016/j.clbc.2018.07.023. Epub 2018 Aug 4.
    • 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.
    • 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.
    • Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.
    • Aravind Kumar M, Naushad SM, Narasimgu N, Nagaraju Naik S, Kadali S, Shanker U, Lakshmi Narasu M.
    • Mol Biol Rep. 2018 Oct;45(5):1413-1419. doi: 10.1007/s11033-018-4307-4. Epub 2018 Aug 22.
    • 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.
    • Association Between BRCA Status and Triple-Negative Breast Cancer: A Meta-Analysis.
    • Chen H, Wu J, Zhang Z, Tang Y, Li X, Liu S, Cao S, Li X.
    • Front Pharmacol. 2018 Aug 21;9:909. doi: 10.3389/fphar.2018.00909. eCollection 2018.
    • Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
    • Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):855-862. doi: 10.1093/jnci/djy106.

    Research news:

    New triple-negative breast cancer risk genes identified.

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

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

    • BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study.
    • Fasching PA, Loibl S, Hu C, Hart SN, Shimelis H, Moore R, Schem C, Tesch H, Untch M, Hilfrich J, Rezai M, Gerber B, Costa SD, Blohmer JU, Fehm T, Huober J, Liedtke C, Weinshilboum RM, Wang L, Ingle JN, Müller V, Nekljudova V, Weber KE, Rack B, Rübner M, von Minckwitz G, Couch FJ.
    • J Clin Oncol. 2018 Aug 1;36(22):2281-2287. doi: 10.1200/JCO.2017.77.2285. Epub 2018 May 23.
    • 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.
    • Therapeutic landscape in mutational triple negative breast cancer.
    • Shi Y, Jin J, Ji W, Guan X.
    • Mol Cancer. 2018 Jul 14;17(1):99. doi: 10.1186/s12943-018-0850-9.
    • Migrating the SNP array-based homologous recombination deficiency measures to next generation sequencing data of breast cancer.
    • Sztupinszki Z, Diossy M, Krzystanek M, Reiniger L, Csabai I, Favero F, Birkbak NJ, Eklund AC, Syed A, Szallasi Z.
    • NPJ Breast Cancer. 2018 Jul 2;4:16. doi: 10.1038/s41523-018-0066-6. eCollection 2018.
    • Prevalence of BRCA1/2 large genomic rearrangements in Chinese women with sporadic triple-negative or familial breast cancer.
    • Su L, Zhang J, Meng H, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Clin Genet. 2018 Jul;94(1):165-169. doi: 10.1111/cge.13256. Epub 2018 May 3.
    • Reported Biologic Differences in Breast Cancer by Race Due to Disparities in Screening.
    • Denu RA.
    • JAMA Oncol. 2018 Jun 1;4(6):883. doi: 10.1001/jamaoncol.2017.5906.

    Original Research:

    Comparison of Breast Cancer Molecular Features and Survival by African and European Ancestry in The Cancer Genome Atlas.

    Letter, Reply:

    Reported Biologic Differences in Breast Cancer by Race Due to Disparities in Screening-Reply.

    • Promoter hypermethylation of p16, BRCA1 and RASSF1A genes in triple-negative breast cancer patients from Serbia.
    • Kozomara Z, Supic G, Krivokuca A, Magic Z, Dzodic R, Milovanovic Z, Brankovic-Magic M.
    • J BUON. 2018 May-Jun;23(3):684-691.
    • Triple negative breast cancer: new therapeutic approaches and BRCA status.
    • Guney Eskiler G, Cecener G, Egeli U, Tunca B.
    • APMIS. 2018 May;126(5):371-379. doi: 10.1111/apm.12836.
    • Review
    • Genetic Counseling Referral Rates in Long-Term Survivors of Triple-Negative Breast Cancer.
    • Barcenas CH, Shafaee MN, Sinha AK, Raghavendra A, Saigal B, Murthy RK, Woodson AH, Arun B.
    • J Natl Compr Canc Netw. 2018 May;16(5):518-524. doi: 10.6004/jnccn.2018.7002.
    • Frequency of Rearrangements Versus Small Indels Mutations in BRCA1 and BRCA2 Genes in Turkish Patients with High Risk Breast and Ovarian Cancer.
    • Yazıcı H, Kılıç S, Akdeniz D, Şükrüoğlu Ö, Tuncer ŞB, Avşar M, Kuru G, Çelik B, Küçücük S, Saip P.
    • Eur J Breast Health. 2018 Apr 1;14(2):93-99. doi: 10.5152/ejbh.2017.3799. eCollection 2018 Apr.
    • Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients.
    • Pederson HJ, Gopalakrishnan D, Noss R, Yanda C, Eng C, Grobmyer SR.
    • J Am Coll Surg. 2018 Apr;226(4):560-565. doi: 10.1016/j.jamcollsurg.2017.12.037. Epub 2018 Jan 31.
    • Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
    • Engel C, Rhiem K, Hahnen E, Loibl S, Weber KE, Seiler S, Zachariae S, Hauke J, Wappenschmidt B, Waha A, Blümcke B, Kiechle M, Meindl A, Niederacher D, Bartram CR, Speiser D, Schlegelberger B, Arnold N, Wieacker P, Leinert E, Gehrig A, Briest S, Kast K, Riess O, Emons G, Weber BHF, Engel J, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • BMC Cancer. 2018 Mar 7;18(1):265. doi: 10.1186/s12885-018-4029-y.
    • A20 Constitutional methylation of BRCA1 gene in breast cancer.
    • Prajzendanc K, Kaczmarek K, Łukomska A, Sukiennicki G, Szwiec M, Huzarski T, Wojdacz TK, Lubiński J, Jakubowska A.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A20. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • Survival and mutation status in breast cancer patients under age 40.
    • [No author given]
    • FORCE. XRAYS. 2018 Feb 15.

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

    Commentary:

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

    • 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.
    • 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.
    • 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.

    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)

    • Breast Cancer Disparities: How Can We Leverage Genomics to Improve Outcomes?
    • Davis MB, Newman LA.
    • Surg Oncol Clin N Am. 2018 Jan;27(1):217-234. doi: 10.1016/j.soc.2017.07.009.
    • Review
    • Metabolomics reveals novel blood plasma biomarkers associated to the BRCA1-mutated phenotype of human breast cancer.
    • Roig B, Rodríguez-Balada M, Samino S, Lam EW, Guaita-Esteruelas S, Gomes AR, Correig X, Borràs J, Yanes O, Gumà J.
    • Sci Rep. 2017 Dec 19;7(1):17831. doi: 10.1038/s41598-017-17897-8.
    • FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.
    • Kiiski JI, Tervasmäki A, Pelttari LM, Khan S, Mantere T, Pylkäs K, Mannermaa A, Tengström M, Kvist A, Borg Å, Kosma VM, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Winqvist R, Nevanlinna H.
    • Breast Cancer Res Treat. 2017 Nov;166(1):217-226. doi: 10.1007/s10549-017-4388-0. Epub 2017 Jul 12.
    • Clinical and genetic characterization of hereditary breast cancer in a Chinese population.
    • Jian W, Shao K, Qin Q, Wang X, Song S, Wang X.
    • Hered Cancer Clin Pract. 2017 Oct 30;15:19. doi: 10.1186/s13053-017-0079-4. eCollection 2017.
    • Contralateral Prophylactic Mastectomy.
    • Ramaswami R, Morrow M, Jagsi R.
    • N Engl J Med. 2017 Sep 28;377(13):1288-1291. doi: 10.1056/NEJMclde1708293.
    • The role of BRCA status on prognosis in patients with triple-negative breast cancer.
    • Xie Y, Gou Q, Wang Q, Zhong X, Zheng H.
    • Oncotarget. 2017 Aug 3;8(50):87151-87162. doi: 10.18632/oncotarget.19895. eCollection 2017 Oct 20.
    • Targeted exome sequencing of Korean triple-negative breast cancer reveals homozygous deletions associated with poor prognosis of adjuvant chemotherapy-treated patients.
    • Jeong HM, Kim RN, Kwon MJ, Oh E, Han J, Lee SK, Choi JS, Park S, Nam SJ, Gong GY, Nam JW, Choi DH, Lee H, Nam BH, Choi YL, Shin YK.
    • Oncotarget. 2017 Jun 27;8(37):61538-61550. doi: 10.18632/oncotarget.18618. eCollection 2017 Sep 22.
    • Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
    • Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Heilmann-Heimbach S, Franke A, Lieb W, Thiele H, Altmüller J, Nürnberg P, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
    • JAMA Oncol. 2017 Sep 1;3(9):1245-1248. doi: 10.1001/jamaoncol.2016.5592.
    • Down's Syndrome and Triple Negative Breast Cancer: A Rare Occurrence of Distinctive Clinical Relationship.
    • Dey N, Krie A, Klein J, Williams K, McMillan A, Elsey R, Sun Y, Williams C, De P, Leyland-Jones B.
    • Int J Mol Sci. 2017 Jun 7;18(6). pii: E1218. doi: 10.3390/ijms18061218.
    • A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.
    • Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, Sharma L, Saam J, Lancaster J, Daly MB.
    • Cancer. 2017 May 15;123(10):1721-1730. doi: 10.1002/cncr.30498. Epub 2017 Jan 13.
    • Therapeutic Strategies in Triple-Negative Breast Cancer.
    • Paradiso A, Singer CF.
    • Breast Care (Basel). 2017 Mar;12(1):6-7. doi: 10.1159/000460238. Epub 2017 Feb 28.

    Review:

    Biological Subtypes of Triple-Negative Breast Cancer.

    Review:

    Germline Mutations in Triple-Negative Breast Cancer.

    Review:

    Therapeutic Advances and New Directions for Triple-Negative Breast Cancer.

    • Germline Mutations in Triple-Negative Breast Cancer.
    • Hahnen E, Hauke J, Engel C, Neidhardt G, Rhiem K, Schmutzler RK.
    • Breast Care (Basel). 2017 Mar;12(1):15-19. doi: 10.1159/000455999. Epub 2017 Feb 24.

    Editorial:

    Therapeutic Strategies in Triple-Negative Breast Cancer.

    • Identification of recurrent BRCA1 mutation and its clinical relevance in Chinese Triple-negative breast cancer cohort.
    • Liu X, Li H, Shao B, Wu J, Kong W, Song G, Jiang H, Wang J, Wan F.
    • Cancer Med. 2017 Mar;6(3):547-554. doi: 10.1002/cam4.1004. Epub 2017 Jan 30.
    • Germline large genomic alterations on 7q in patients with multiple primary cancers.
    • Villacis RA, Basso TR, Canto LM, Nóbrega AF, Achatz MI, Rogatto SR.
    • Sci Rep. 2017 Jan 31;7:41677. doi: 10.1038/srep41677.
    • Genetic Ancestry using Mitochondrial DNA in patients with Triple-negative breast cancer (GAMiT study).
    • Rao R, Rivers A, Rahimi A, Wooldridge R, Rao M, Leitch M, Euhus D, Haley BB.
    • Cancer. 2017 Jan 1;123(1):107-113. doi: 10.1002/cncr.30267. Epub 2016 Sep 1.
    • Clinical Characteristics in Patients with Triple Negative Breast Cancer.
    • Yeh J, Chun J, Schwartz S, Wang A, Kern E, Guth AA, Axelrod D, Shapiro R, Schnabel F.
    • Int J Breast Cancer. 2017;2017:1796145. doi: 10.1155/2017/1796145. Epub 2017 Aug 17.
    • Association between basal-like phenotype and BRCA1/2 germline mutations in Korean breast cancer patients.
    • Jung J, Kang E, Gwak JM, Seo AN, Park SY, Lee AS, Baek H, Chae S, Kim EK, Kim SW.
    • Curr Oncol. 2016 Oct;23(5):298-303. Epub 2016 Oct 25.
    • Biology and Management of Patients With Triple-Negative Breast Cancer.
    • Sharma P.
    • Oncologist. 2016 Sep;21(9):1050-62. doi: 10.1634/theoncologist.2016-0067. Epub 2016 Jul 11.
    • 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.
    • [BRCA1/2 gene mutation and clinicopathologic features of triple negative breast cancer].
    • Ma ZP, Wang W, Zhang W.
    • Zhonghua Bing Li Xue Za Zhi. 2016 Jun 8;45(6):397-400. doi: 10.3760/cma.j.issn.0529-5807.2016.06.009.
    • [Article in Chinese]
    • Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
    • Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE.
    • J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.

    Letter:

    Next-Generation Sequencing of Tumors to Better Estimate the Clinical Significance of Non-BRCA Germline Deleterious Mutations.

    • 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.
    • Genetic evaluation of BRCA1 associated a complex genes with triple-negative breast cancer susceptibility in Chinese women.
    • Ling H, Li S, Wu Y, Zheng YZ, Qiao F, Yao L, Cao ZG, Ye FG, Wu J, Hu X, Wang B, Shao ZM.
    • Oncotarget. 2016 Mar 1;7(9):9759-72. doi: 10.18632/oncotarget.7112.
    • Genetics of triple-negative breast cancer: Implications for patient care.
    • Afghahi A, Telli ML, Kurian AW.
    • Curr Probl Cancer. 2016 Mar - Aug;40(2-4):130-140. doi: 10.1016/j.currproblcancer.2016.09.007. Epub 2016 Sep 23.
    • Review
    • Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.
    • De Brakeleer S, De Grève J, Desmedt C, Joris S, Sotiriou C, Piccart M, Pauwels I, Teugels E.
    • Clin Genet. 2016 Mar;89(3):336-40. doi: 10.1111/cge.12620. Epub 2015 Jun 16.
    • Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.
    • Domagala P, Jakubowska A, Jaworska-Bieniek K, Kaczmarek K, Durda K, Kurlapska A, Cybulski C, Lubinski J.
    • PLoS One. 2015 Jun 17;10(6):e0130393. doi: 10.1371/journal.pone.0130393.
    • DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition.
    • Ollier M, Radosevic-Robin N, Kwiatkowski F, Ponelle F, Viala S, Privat M, Uhrhammer N, Bernard-Gallon D, Penault-Llorca F, Bignon YJ, Bidet Y.
    • Am J Cancer Res. 2015 Jun 15;5(7):2113-26. eCollection 2015.
    • Response to "biologic, demographic, and social factors affecting triple negative breast cancer outcomes".
    • [No authors listed]
    • Clin J Oncol Nurs. 2015 Jun;19(3):244. doi: 10.1188/15.CJON.244.
    • Comment, Letter

    Biologic, demographic, and social factors affecting triple negative breast cancer outcomes.

    • Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
    • Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, Fountzilas G, Pelttari LM, Tapper WJ, Durcan L, Cross SS, Pilarski R, Shapiro CL, Klemp J, Yao S, Garber J, Cox A, Brauch H, Ambrosone C, Nevanlinna H, Yannoukakos D, Slager SL, Vachon CM, Eccles DM, Fasching PA.
    • J Clin Oncol. 2015 Feb 1;33(4):304-11. doi: 10.1200/JCO.2014.57.1414. Epub 2014 Dec 1.

    Evolution of genetic testing for inherited susceptibility to breast cancer.

    • Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
    • Wong-Brown MW, Meldrum CJ, Carpenter JE, Clarke CL, Narod SA, Jakubowska A, Rudnicka H, Lubinski J, Scott RJ.
    • Breast Cancer Res Treat. 2015 Feb;150(1):71-80. doi: 10.1007/s10549-015-3293-7. Epub 2015 Feb 15.

    Press: Breast cancer gene breakthrough. (Health Canal)

    • Recurrent CYP2C19 deletion allele is associated with triple-negative breast cancer.
    • Tervasmäki A, Winqvist R, Jukkola-Vuorinen A, Pylkäs K.
    • BMC Cancer. 2014 Dec 2;14:902. doi: 10.1186/1471-2407-14-902.
    • Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.
    • Zugazagoitia J, Pérez-Segura P, Manzano A, Blanco I, Vega A, Custodio A, Teulé A, Fachal L, Martínez B, González-Sarmiento R, Cruz-Hernández JJ, Chirivella I, Garcés V, Garre P, Romero A, Caldés T, Díaz-Rubio E, de la Hoya M.
    • Breast Cancer Res Treat. 2014 Nov;148(2):415-21. doi: 10.1007/s10549-014-3167-4. Epub 2014 Oct 24.
    • Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.
    • Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Bützow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomäki K, Nevanlinna H.
    • Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):15172-7. doi: 10.1073/pnas.1407909111. Epub 2014 Oct 6.
    • 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.
    • Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing.
    • Sharma P, Klemp JR, Kimler BF, Mahnken JD, Geier LJ, Khan QJ, Elia M, Connor CS, McGinness MK, Mammen JM, Wagner JL, Ward C, Ranallo L, Knight CJ, Stecklein SR, Jensen RA, Fabian CJ, Godwin AK.
    • Breast Cancer Res Treat. 2014 Jun;145(3):707-14. doi: 10.1007/s10549-014-2980-0. Epub 2014 May 7.
    • Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
    • Purrington KS, Slager S, Eccles D, Yannoukakos D, Fasching PA, Miron P, Carpenter J, Chang-Claude J, Martin NG, Montgomery GW, Kristensen V, Anton-Culver H, Goodfellow P, Tapper WJ, Rafiq S, Gerty SM, Durcan L, Konstantopoulou I, Fostira F, Vratimos A, Apostolou P, Konstanta I, Kotoula V, Lakis S, Dimopoulos MA, Skarlos D, Pectasides D, Fountzilas G, Beckmann MW, Hein A, Ruebner M, Ekici AB, Hartmann A, Schulz-Wendtland R, Renner SP, Janni W, Rack B, Scholz C, Neugebauer J, Andergassen U, Lux MP, Haeberle L, Clarke C, Pathmanathan N, Rudolph A, Flesch-Janys D, Nickels S, Olson JE, Ingle JN, Olswold C, Slettedahl S, Eckel-Passow JE, Anderson SK, Visscher DW, Cafourek VL, Sicotte H, Prodduturi N, Weiderpass E, Bernstein L, Ziogas A, Ivanovich J, Giles GG, Baglietto L, Southey M, Kosma VM, Fischer HP; GENICA Network, Reed MW, Cross SS, Deming-Halverson S, Shrubsole M, Cai Q, Shu XO, Daly M, Weaver J, Ross E, Klemp J, Sharma P, Torres D, Rüdiger T, Wölfing H, Ulmer HU, Försti A, Khoury T, Kumar S, Pilarski R, Shapiro CL, Greco D, Heikkilä P, Aittomäki K, Blomqvist C, Irwanto A, Liu J, Pankratz VS, Wang X, Severi G, Mannermaa A, Easton D, Hall P, Brauch H, Cox A, Zheng W, Godwin AK, Hamann U, Ambrosone C, Toland AE, Nevanlinna H, Vachon CM, Couch FJ.
    • Carcinogenesis. 2014 May;35(5):1012-9. doi: 10.1093/carcin/bgt404. Epub 2013 Dec 9.
    • Genetic Susceptibility to Triple‐Negative Breast Cancers.
    • Michelle W Wong‐Brown, Rodney J Scott.
    • eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net ; 2014 May; doi: 10.1002/9780470015902.a0025352.
    • Triple-negative breast cancer frequency and type of BRCA mutation: Clues from Sardinia.
    • Palomba G, Budroni M, Olmeo N, Atzori F, Ionta MT, Pisano M, Tanda F, Cossu A, Palmieri G.
    • Oncol Lett. 2014 Apr;7(4):948-952. Epub 2014 Jan 28.
    • Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).
    • Andrés R, Pajares I, Balmaña J, Llort G, Ramón Y Cajal T, Chirivella I, Aguirre E, Robles L, Lastra E, Pérez-Segura P, Bosch N, Yagüe C, Lerma E, Godino J, Miramar MD, Moros M, Astier P, Saez B, Vidal MJ, Arcusa A, Ramón Y Cajal S, Calvo MT, Tres A.
    • Clin Transl Oncol. 2014 Mar;16(3):280-4. doi: 10.1007/s12094-013-1070-9. Epub 2013 Aug 27.
    • Clinicopathologic features of triple negative breast cancers: an experience from Pakistan.
    • Hashmi AA, Edhi MM, Naqvi H, Faridi N, Khurshid A, Khan M.
    • Diagn Pathol. 2014 Feb 28;9:43. doi: 10.1186/1746-1596-9-43.
    • Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer.
    • Wong-Brown MW, Avery-Kiejda KA, Bowden NA, Scott RJ.
    • Int J Cancer. 2014 Jan 15;134(2):301-5. doi: 10.1002/ijc.28361. Epub 2013 Sep 23.
    • Risk of having BRCA1 mutation in high-risk women with triple-negative breast cancer: a meta-analysis.
    • Tun N, Villani G, Ong K, Yoe L, Bo Z.
    • Clin Genet. 2014 Jan;85(1):43-8. doi: 10.1111/cge.12270. Epub 2013 Oct 3.
    • Meta-Analysis
    • Prognostic role of BRCA1 mutation in patients with triple-negative breast cancer.
    • Maksimenko J, Irmejs A, Nakazawa-Miklasevica M, Melbarde-Gorkusa I, Trofimovics G, Gardovskis J, Miklasevics E.
    • Oncol Lett. 2014 Jan;7(1):278-284. Epub 2013 Nov 14.
    • 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.
    • BRCA1 polymorphisms and breast cancer epidemiology in the Western New York exposures and breast cancer (WEB) study.
    • Ricks-Santi LJ, Nie J, Marian C, Ochs-Balcom HM, Trevisan M, Edge SB, Freudenheim JL, Shields PG.
    • Genet Epidemiol. 2013 Jul;37(5):504-11. doi: 10.1002/gepi.21730. Epub 2013 May 14.
    • Molecular Mechanism and Targeted Therapy Options of Triple-Negative (ER, PgR, HER-2/neu) Breast Cancer: Review.
    • Kandula M, Ch KK, Ys AR.
    • World J Oncol. 2013 Jun;4(3):137-141. doi: 10.4021/wjon681e. Epub 2013 Jul 15.
    • [Triple-negative breast cancer: histoclinical and molecular features, therapeutic management and perspectives].
    • Gonçalves A, Sabatier R, Charafe-Jauffret E, Gilabert M, Provansal M, Tarpin C, Extra JM, Viens P, Bertucci F.
    • Bull Cancer. 2013 May;100(5):453-64. doi: 10.1684/bdc.2013.1740.
    • Review, [Article in French]
    • Genetic susceptibility to triple-negative breast cancer.
    • Stevens KN, Vachon CM, Couch FJ.
    • Cancer Res. 2013 Apr 1;73(7):2025-30. doi: 10.1158/0008-5472.CAN-12-1699. Epub 2013 Mar 27.
    • RAD51 genotype and triple-negative breast cancer (TNBC) risk in Polish women.
    • Smolarz B, Zadrożny M, Duda-Szymańska J, Makowska M, Samulak D, Michalska MM, Mojs E, Bryś M, Forma E, Romanowicz-Makowska H.
    • Pol J Pathol. 2013 Apr;64(1):39-43.
    • Methylation of BRCA1 promoter region is associated with unfavorable prognosis in women with early-stage breast cancer.
    • Hsu NC, Huang YF, Yokoyama KK, Chu PY, Chen FM, Hou MF.
    • PLoS One. 2013;8(2):e56256. doi: 10.1371/journal.pone.0056256. Epub 2013 Feb 6.
    • An Integrative Genomics Approach for Associating GWAS Information with Triple-Negative Breast Cancer.
    • Hicks C, Kumar R, Pannuti A, Backus K, Brown A, Monico J, Miele L.
    • Cancer Inform. 2013;12:1-20. doi: 10.4137/CIN.S10413. Epub 2013 Jan 29.
    • Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer.
    • Rummel S, Varner E, Shriver CD, Ellsworth RE.
    • Breast Cancer Res Treat. 2013 Jan;137(1):119-25. doi: 10.1007/s10549-012-2348-2. Epub 2012 Nov 29.
    • Genetic susceptibility Loci for subtypes of breast cancer in an african american population.
    • Palmer JR, Ruiz-Narvaez EA, Rotimi CN, Cupples LA, Cozier YC, Adams-Campbell LL, Rosenberg L.
    • Cancer Epidemiol Biomarkers Prev. 2013 Jan;22(1):127-34. doi: 10.1158/1055-9965.EPI-12-0769. Epub 2012 Nov 7.
    • Genome and transcriptome sequencing in prospective metastatic triple-negative breast cancer uncovers therapeutic vulnerabilities.
    • Craig DW, O'Shaughnessy JA, Kiefer JA, Aldrich J, Sinari S, Moses TM, Wong S, Dinh J, Christoforides A, Blum JL, Aitelli CL, Osborne CR, Izatt T, Kurdoglu A, Baker A, Koeman J, Barbacioru C, Sakarya O, De La Vega FM, Siddiqui A, Hoang L, Billings PR, Salhia B, Tolcher AW, Trent JM, Mousses S, Von Hoff D, Carpten JD.
    • Mol Cancer Ther. 2013 Jan;12(1):104-16. doi: 10.1158/1535-7163.MCT-12-0781. Epub 2012 Nov 19.
    • Triple Negative Breast Cancer - An Overview.
    • Aysola K, Desai A, Welch C, Xu J, Qin Y, Reddy V, Matthews R, Owens C, Okoli J, Beech DJ, Piyathilake CJ, Reddy SP, Rao VN.
    • Hereditary Genet. 2013;2013(Suppl 2). pii: 001.
    • 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
    • Frequency of Triple-Negative Breast Cancer in BRCA1 Mutation Carriers: Comparison Between Common Ashkenazi Jewish and Other Mutations.
    • Tung N, Garber JE, Lincoln A, Domchek SM.
    • J Clin Oncol. 2012 Dec 10;30(35):4447-8. doi: 10.1200/JCO.2012.44.5635. Epub 2012 Oct 22.

    Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women.

    • Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.
    • Pern F, Bogdanova N, Schürmann P, Lin M, Ay A, Länger F, Hillemanns P, Christiansen H, Park-Simon TW, Dörk T.
    • PLoS One. 2012;7(10):e47993. doi: 10.1371/journal.pone.0047993. Epub 2012 Oct 24.
    • Triple-negative breast cancer: epidemiological considerations and recommendations.
    • Boyle P.
    • Ann Oncol. 2012 Aug;23 Suppl 6:vi7-12.
    • 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.
    • Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer.
    • Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, Griffin M, Hamilton SA, Frye CA, Silberman MA, Wenstrup RJ, Sandbach JF.
    • Cancer. 2012 Jun 1;118(11):2787-95. doi: 10.1002/cncr.26576. Epub 2011 Oct 5.
    • 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.
    • Dissecting the heterogeneity of triple-negative breast cancer.
    • Metzger-Filho O, Tutt A, de Azambuja E, Saini KS, Viale G, Loi S, Bradbury I, Bliss JM, Azim HA Jr, Ellis P, Di Leo A, Baselga J, Sotiriou C, Piccart-Gebhart M.
    • J Clin Oncol. 2012 May 20;30(15):1879-87. doi: 10.1200/JCO.2011.38.2010. Epub 2012 Mar 26.
    • Review
    • 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.
    • BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years.
    • Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, Turnbull C, Houlston R, Shanley S, Butler S, Evans DG, Ross G, Eccles D, Tutt A, Rahman N.
    • Br J Cancer. 2012 Mar 13;106(6):1234-8. doi: 10.1038/bjc.2012.31. Epub 2012 Feb 14.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: NCCN breast guidelines - 2 questions

    Press: Calls for expanded BRCA1 genetic testing of women (PHG Foundation)

    Press: BRCA1 testing for triple-negative breast cancer (Lancet Oncology)

    • Triple negative breast cancer: proposals for a pragmatic definition and implications for patient management and trial design.
    • Eiermann W, Bergh J, Cardoso F, Conte P, Crown J, Curtin NJ, Gligorov J, Gusterson B, Joensuu H, Linderholm BK, Martin M, Penault-Llorca F, Pestalozzi BC, Razis E, Sotiriou C, Tjulandin S, Viale G.
    • Breast. 2012 Feb;21(1):20-6. doi: 10.1016/j.breast.2011.09.006. Epub 2011 Oct 8.
    • Review
    • Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
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