Breast Cancer Types ~ Breast Cancer — Risk / Phenotype

Specific breast cancer subtypes or pathology associated with given genes/mutations

List was last updated on Nov 28, 2019 @ 10:44 pm.


    • Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
    • Ruiz de Sabando A, Urrutia Lafuente E, García-Amigot F, Alonso Sánchez A, Morales Garofalo L, Moreno S, Ardanaz E, Ramos-Arroyo MA.
    • BMC Cancer. 2019 Nov 27;19(1):1145. doi: 10.1186/s12885-019-6277-x.
    • Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.
    • Wu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Breast Cancer Res Treat. 2019 Nov 25. doi: 10.1007/s10549-019-05483-7. [Epub ahead of print]
    • Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li-Fraumeni syndrome).
    • Petry V, Bonadio RC, Cagnacci AQC, Senna LAL, Campos RDNG, Cotti GC, Hoff PM, Fragoso MCBV, Estevez-Diz MDP.
    • Fam Cancer. 2019 Nov 20. doi: 10.1007/s10689-019-00153-5. [Epub ahead of print]
    • Breast cancer surveillance for BRCA1/2 mutation carriers - is "early detection" early enough?
    • Bernstein-Molho R, Kaufman B, Ben David MA, Sklair-Levy M, Feldman DM, Zippel D, Laitman Y, Friedman E.
    • Breast. 2019 Nov 6;49:81-86. doi: 10.1016/j.breast.2019.10.012. [Epub ahead of print]
    • The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
    • Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM; ABCTB Investigators, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA; GEMO Study Collaborators, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD 3rd, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN; KConFab, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P.
    • NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019.
    • Outcomes of women at high familial risk for breast cancer: An 8-year single-center experience.
    • Lammert J, Skandarajah AR, Shackleton K, Calder P, Thomas S, Lindeman GJ, Mann GB.
    • Asia Pac J Clin Oncol. 2019 Oct 28. doi: 10.1111/ajco.13274. [Epub ahead of print]
    • Interval Breast Cancer Risk Associations with Breast Density, Family History, and Breast Tissue Ageing.
    • Nguyen TL, Li S, Dite GS, Aung YK, Evans CF, Trinh HN, Baglietto L, Stone J, Song YM, Sung J, English DR, Jenkins MA, Dugué PA, Milne RL, Southey MC, Giles GG, Pike MC, Hopper JL.
    • Int J Cancer. 2019 Oct 14. doi: 10.1002/ijc.32731. [Epub ahead of print]
    • Mammographic Breast Density Assessed with Fully Automated Method and its Risk for Breast Cancer.
    • J Clin Imaging Sci. 2019 Oct 11;9:43. doi: 10.25259/JCIS_70_2019. eCollection 2019.
    • Study of the PARP inhibitor talazoparib (Talzenna) for early-stage breast cancer is promising.
    • [No author given]
    • FORCE. XRAYS. 2019 Oct 4.

    Original research:

    Neoadjuvant Talazoparib for Patients With Operable Breast Cancer With a Germline BRCA Pathogenic Variant.

    • Patterns of recurrence and metastasis in BRCA1/BRCA2-associated breast cancers.
    • Song Y, Barry WT, Seah DS, Tung NM, Garber JE, Lin NU.
    • Cancer. 2019 Oct 3. doi: 10.1002/cncr.32540. [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.
    • Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China.
    • Deng M, Chen HH, Zhu X, Luo M, Zhang K, Xu CJ, Hu KM, Cheng P, Zhou JJ, Zheng S, Chen YD.
    • Int J Cancer. 2019 Sep 15;145(6):1517-1528. doi: 10.1002/ijc.32184. Epub 2019 Feb 22.
    • Breast Cancer Screening in BRCA Mutation Carriers: Necessity of a Relevant Update of Mammographic Modalities.
    • Colin C, Doutriaux-Dumoulin I.
    • Radiology. 2019 Sep 3:191306. doi: 10.1148/radiol.2019191306. [Epub ahead of print]
    • Letter, Comment

    Original research:

    BRCA Mutation Carriers: Breast and Ovarian Cancer Screening Guidelines and Imaging Considerations.

    • 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]
    • Neoadjuvant Talazoparib for Patients With Operable Breast Cancer With a Germline BRCA Pathogenic Variant.
    • Litton JK, Scoggins ME, Hess KR, Adrada BE, Murthy RK, Damodaran S, DeSnyder SM, Brewster AM, Barcenas CH, Valero V, Whitman GJ, Schwartz-Gomez J, Mittendorf EA, Thompson AM, Helgason T, Ibrahim N, Piwnica-Worm H1, Moulder SL, Arun BK.
    • J Clin Oncol. 2019 Aug 28:JCO1901304. doi: 10.1200/JCO.19.01304. [Epub ahead of print]

    Research news: Study of the PARP inhibitor talazoparib (Talzenna) for early-stage breast cancer is promising. (FORCE. XRAYS.)

    • Risk factors for triple negative breast cancer among Latina women.
    • Rey-Vargas L, Sanabria Salas MC, Fejerman L, Serrano-Gómez SJ.
    • Cancer Epidemiol Biomarkers Prev. 2019 Aug 27. pii: cebp.0035.2019. doi: 10.1158/1055-9965.EPI-19-0035. [Epub ahead of print]
    • A novel BRCA1 germline mutation promotes triple-negative breast cancer cells progression and enhances sensitivity to DNA damage agents.
    • Xu K, Shi Y, Wang X, Chen Y, Tang L, Guan X.
    • Cancer Genet. 2019 Aug 23;239:26-32. doi: 10.1016/j.cancergen.2019.08.004. [Epub ahead of print]
    • 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]
    • Functional analysis of clinical BARD1 germline variants.
    • Toh MR, Chong ST, Chan SH, Low CE, Ishak NDB, Lim JQ, Courtney E, Ngeow J.
    • Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004093. doi: 10.1101/mcs.a004093. Print 2019 Aug.
    • MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial.
    • Saadatmand S, Geuzinge HA, Rutgers EJT, Mann RM, de Roy van Zuidewijn DBW, Zonderland HM, Tollenaar RAEM, Lobbes MBI, Ausems MGEM, van 't Riet M, Hooning MJ, Mares-Engelberts I, Luiten EJT, Heijnsdijk EAM, Verhoef C, Karssemeijer N, Oosterwijk JC, Obdeijn IM, de Koning HJ, Tilanus-Linthorst MMA; FaMRIsc study group.
    • Lancet Oncol. 2019 Aug;20(8):1136-1147. doi: 10.1016/S1470-2045(19)30275-X. Epub 2019 Jun 17.

    Comment:

    Underdiagnosis is the main challenge in breast cancer screening.

    Letter, Commentary:

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

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

    • Molecular characteristics of breast cancer according to clinicopathological factors.
    • Huszno J, Kolosza Z.
    • Mol Clin Oncol. 2019 Aug;11(2):192-200. doi: 10.3892/mco.2019.1869. Epub 2019 May 28.
    • Transforming growth factor beta receptor II (TGFBR2) promoter region polymorphism in Brazilian breast cancer patients: association with susceptibility, clinicopathological features, and interaction with TGFB1 haplotypes.
    • Vitiello GAF, Amarante MK, Banin-Hirata BK, Campos CZ, de Oliveira KB, Losi-Guembarovski R, Watanabe MAE.
    • Breast Cancer Res Treat. 2019 Jul 30. doi: 10.1007/s10549-019-05370-1. [Epub ahead of print]
    • In BRCA mutation carriers breast conserving surgery may not be the best choice.
    • Trimboli RM, Schiaffino S, Sardanelli F.
    • Breast Cancer Res Treat. 2019 Jul 27. doi: 10.1007/s10549-019-05373-y. [Epub ahead of print]
    • Letter, Commentary

    Original research:

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

    • CpG promoter hypo-methylation and up-regulation of microRNA-190b in hormone receptor-positive breast cancer.
    • Frick E, Gudjonsson T, Eyfjord J, Jonasson J, Tryggvadóttir L, Stefansson O, Sigurdsson S.
    • Oncotarget. 2019 Jul 23;10(45):4664-4678. doi: 10.18632/oncotarget.27083. eCollection 2019 Jul 23.
    • 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.
    • Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort.
    • Zeinomar N, Phillips KA, Daly MB, Milne RL, Dite GS, MacInnis RJ, Liao Y, Kehm RD, Knight JA, Southey MC, Chung WK, Giles GG, McLachlan SA, Friedlander ML, Weideman PC, Glendon G, Nesci S; kConFab Investigators, Andrulis IL, Buys SS, John EM, Hopper JL, Terry MB.
    • Int J Cancer. 2019 Jul 15;145(2):370-379. doi: 10.1002/ijc.32112. Epub 2019 Feb 20.
    • 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.
    • The molecular genetic make-up of male breast cancer.
    • Moelans CB, de Ligt J, van der Groep P, Prins P4, Besselink N, Hoogstraat M, Ter Hoeve N, Lacle M, Kornegoor R, van der Pol C, de Leng W, Barbe E, van der Vegt B, Martens J, Bult P, Smits VT, Koudijs M, Nijman I, Voest E, Selenica P, Weigelt B, Reis-Filho J, van der Wall E, Cuppen E, van Diest PJ.
    • Endocr Relat Cancer. 2019 Jul 1. pii: ERC-19-0278. doi: 10.1530/ERC-19-0278. [Epub ahead of print]
    • Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer.
    • Petridis C, Arora I, Shah V, Moss CL, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Cancer Epidemiol Biomarkers Prev. 2019 Jul;28(7):1162-1168. doi: 10.1158/1055-9965.EPI-18-1102.
    • Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.
    • Sagna T, Bonora E, Ouedraogo MNL, Fusco D, Zoure AA, Bisseye C, Djigma F, Kafando JG, Zongo N, Douamba Z, Obiri-Yeboah D, Turchetti D, Pietra V, Lompo OM, Ouedraogo C, Seri M, Simpore J.
    • Biomol Concepts. 2019 Jun 11;10(1):120-127. doi: 10.1515/bmc-2019-0015.
    • Germline variants and somatic mutation signatures of breast cancer across populations of African and European ancestry in the US and Nigeria.
    • Wang S, Pitt JJ, Zheng Y, Yoshimatsu TF, Gao G, Sanni A, Oluwasola O, Ajani M, Fitzgerald D, Odetunde A, Khramtsova G, Hurley I, Popoola A, Falusi A, Ogundiran T, Obafunwa J, Ojengbede O, Ibrahim N, Barretina J, White KP, Huo D, Olopade O.
    • Int J Cancer. 2019 Jun 7. doi: 10.1002/ijc.32498. [Epub ahead of print]
    • Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients.
    • Fernandes GC, Felicio PS, Michelli RAD, Coelho AS, Scapulatempo-Neto C, Palmero EI.
    • Asian Pac J Cancer Prev. 2019 Jun 1;20(6):1655-1660. doi: 10.31557/APJCP.2019.20.6.1655.
    • Novel germline STK11 variants and breast cancer phenotype identified in an Indian cohort of Peutz-Jeghers syndrome.
    • Lipsa A, Kowtal P, Sarin R.
    • Hum Mol Genet. 2019 Jun 1;28(11):1885-1893. doi: 10.1093/hmg/ddz027.
    • [Breast Cancer in BRCA1/2 Mutation Carriers - Do We Treat It Differently? Focus on Systemic Therapy for BRCA1/2 Associated Breast Cancer.]
    • Palácová M.
    • Klin Onkol. 2019 Summer;32(Supplementum2):24-30. doi: 10.14735/amko2019S24.
    • [Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.]
    • Kleiblová P, Stolařová L, Křížová K, Lhota F, Hojný J, Zemánková P, Havránek O, Vočka M, Černá M, Lhotová K, Borecká M, Janatová M, Soukupová J, Ševčík J, Zimovjanová M, Kotlas J, Panczak A, Veselá K, Červenková J, Schneiderová M, Burócziová M, Burdová K, Stránecký V, Foretová L, Macháčková E, Tavandzis S, Kmoch S, Macůrek L, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):36-50. doi: 10.14735/amko2019S36.
    • Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China.
    • Cao W, Xie Y, He Y, Li J, Wang T, Fan Z, Fan T, Ouyang T.
    • Breast Cancer Res Treat. 2019 Jun;175(3):749-754. doi: 10.1007/s10549-019-05199-8. Epub 2019 Mar 20.

    Letter, Commentary:

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

    • Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).
    • Lo W, Zhu B, Sabesan A, Wu HH, Powers A, Sorber RA, Ravichandran S, Chen I, McDuffie LA, Quadri HS, Beane JD, Calzone K, Miettinen MM, Hewitt SM, Koh C, Heller T, Wacholder S, Rudloff U.
    • J Med Genet. 2019 Jun;56(6):370-379. doi: 10.1136/jmedgenet-2018-105361. Epub 2019 Feb 11.
    • The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.
    • Mandelker D, Kumar R, Pei X, Selenica P, Setton J, Arunachalam S, Ceyhan-Birsoy O, Brown DN, Norton L, Robson ME, Wen HY, Powell S, Riaz N, Weigelt B, Reis-Filho JS.
    • JNCI Cancer Spectr. 2019 Apr 27;3(2):pkz027. doi: 10.1093/jncics/pkz027. eCollection 2019 Jun.
    • Molecular comparison of interval and screen-detected breast cancers.
    • Cheasley D, Li N, Rowley SM, Elder K, Mann GB, Loi S, Savas P, Goode DL, Kader T, Zethoven M, Semple T, Fox SB, Pang JM, Byrne D, Devereux L, Nickson C, Procopio P, Lee G, Hughes S, Saunders H, Fujihara KM, Kuykhoven K, Connaughton J, James PA, Gorringe KL, Campbell IG.
    • J Pathol. 2019 Jun;248(2):243-252. doi: 10.1002/path.5251. Epub 2019 Mar 8.
    • Male breast cancer: Specific biological characteristics and survival in a Portuguese cohort.
    • André S, Pereira T, Silva F, Machado P, Vaz F, Aparício M, Silva GL, Pinto AE.
    • Mol Clin Oncol. 2019 Jun;10(6):644-654. doi: 10.3892/mco.2019.1841. Epub 2019 Apr 8.
    • Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.
    • Vocka M, Zimovjanova M, Bielcikova Z, Tesarova P, Petruzelka L, Mateju M, Krizova L, Kotlas J, Soukupova J, Janatova M, Zemankova P, Kleiblova P, Novotny J, Konopasek B, Chodacka M, Brychta M, Sochor M, Smejkalova-Musilova D, Cmejlova V, Kozevnikovova R, Miskarova L, Argalacsova S, Stolarova L, Lhotova K, Borecka M, Kleibl Z.
    • Cancers (Basel). 2019 May 28;11(6). pii: E738. doi: 10.3390/cancers11060738.
    • 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.
    • Breast cancer histologic subtypes show excess familial clustering.
    • Henry NL, Cannon-Albright LA.
    • Cancer. 2019 May 23. doi: 10.1002/cncr.32198. [Epub ahead of print]
    • Metaplastic breast cancer has a poor response to neoadjuvant systemic therapy.
    • Al-Hilli Z, Choong G, Keeney MG, Visscher DW, Ingle JN, Goetz MP, Jakub JW.
    • Breast Cancer Res Treat. 2019 May 22. doi: 10.1007/s10549-019-05264-2. [Epub ahead of print]
    • Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X.
    • Yoshida R, Watanabe C, Yokoyama S, Inuzuka M, Yotsumoto J, Arai M, Nakamura S, the Registration Committee of the Japanese HBOC consortium.
    • Oncotarget. 2019 May 14;10(35):3276-3284. doi: 10.18632/oncotarget.26852. eCollection 2019 May 14.
    • Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.
    • Petridis C, Arora I, Shah V, Megalios A, Moss C, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Breast Cancer Res. 2019 May 6;21(1):58. doi: 10.1186/s13058-019-1143-y.
    • Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.
    • Adaniel C, Salinas F, Donaire JM, Bravo ME, Peralta O, Paredes H, Aliaga N, Sola A, Neira P, Behnke C, Rodriguez T, Torres S, Lopez F, Hurtado C.
    • J Glob Oncol. 2019 May;(5):1-14. doi: 10.1200/JGO.18.00163.
    • Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics - the Cohort study of TP53 carrier early onset breast cancer (COPE study).
    • Packwood K, Martland G, Sommerlad M, Shaw E, Moutasim K, Thomas G, Bateman A, Jones L, Haywood L, Evans DG, Birch JM, Alsalmi OA, Henderson A, Poplawski N, Eccles DM.
    • J Pathol Clin Res. 2019 Apr 30. doi: 10.1002/cjp2.133. [Epub ahead of print]
    • BRCA Mutation Carriers: Breast and Ovarian Cancer Screening Guidelines and Imaging Considerations.
    • Elezaby M, Lees B, Maturen KE, Barroilhet L, Wisinski KB, Schrager S, Wilke LG, Sadowski E.
    • Radiology. 2019 Apr 30:181814. doi: 10.1148/radiol.2019181814. [Epub ahead of print]

    Letter, Comment:

    Breast Cancer Screening in BRCA Mutation Carriers: Necessity of a Relevant Update of Mammographic Modalities.

    • Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era.
    • Macedo GS, Alemar B, Ashton-Prolla P.
    • Genet Mol Biol. 2019 Apr 29. pii: S1415-47572019005015101. doi: 10.1590/1678-4685-GMB-2018-0104. [Epub ahead of print]
    • Hyaline fibrous involution of breast lobules: a histologic finding associated with germline BRCA mutation.
    • Lee HE, Arshad M, Brahmbhatt RD, Hoskin TL, Winham SJ, Frost MH, Radisky DC, Denison LA, Degnim AC, Visscher DW.
    • Mod Pathol. 2019 Apr 17. doi: 10.1038/s41379-019-0217-9. [Epub ahead of print]
    • Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
    • Wang J, Li W, Shi Y, Huang Y, Sun T, Tang L, Lu Q, Lei Q, Liao N, Jin F, Li H, Huang T, Qian J, Pang D, Wang S, Fan P, Wu X, Lin Y, Qin H, Xu B.
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    • FORCE. XRAYS. 2019 Jan 7.

    ClinicalTrials.gov: Pregnancy Outcome and Safety of Interrupting Therapy for Women With Endocrine Responsive Breast Cancer (POSITIVE) (NIH. ClinicalTrials.gov.)

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    Original research:

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

    Letter, Comment:

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

    Letter, Comment:

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

    Letter, Reply:

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

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

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    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.)

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    Letter

    Common genetic susceptibility to DCIS and invasive ductal carcinoma.

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: HR-low-positive tumors. Treat as TNBC?

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    Commentary

    RANKL/OPG in Breast Cancer - Extending Its Territory to BRCA Mutation Carriers.

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    • Medullary breast carcinoma in an 18-year-old female: report on one case diagnosed on fine-needle cytology sample.
    • Galzerano A, Rocco N, Accurso A, Ciancia G, Campanile AC, Caccavello F, Fulciniti F.
    • Diagn Cytopathol. 2014 May;42(5):445-8. doi: 10.1002/dc.22947. Epub 2013 Jan 22.
    • Case report
    • 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.
    • Lobular breast cancer in a CDH1 splice site mutation carrier: case report and review of the literature.
    • McVeigh TP, Choi JK, Miller NM, Green AJ, Kerin MJ.
    • Clin Breast Cancer. 2014 Apr;14(2):e47-51. doi: 10.1016/j.clbc.2013.10.007. Epub 2013 Oct 25.
    • Case Report, Review
    • 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.
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    • Male Breast Cancer and Hyperestrogenemia: A Thirteen-Year Review.
    • Tariq KB, Al-Saffar F, Ibrahim S, Pham D, Farhangi A, Rana F, Zaiden R.
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    • 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.
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    • Germline CDH1 mutations in bilateral lobular carcinoma in situ.
    • Petridis C, Shinomiya I, Kohut K, Gorman P, Caneppele M, Shah V, Troy M, Pinder SE, Hanby A, Tomlinson I, Trembath RC, Roylance R, Simpson MA, Sawyer EJ.
    • Br J Cancer. 2014 Feb 18;110(4):1053-7. doi: 10.1038/bjc.2013.792. Epub 2013 Dec 24.
    • 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.
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    • Meta-Analysis
    • Lobulitis in nonneoplastic breast tissue from breast cancer patients: association with phenotypes that are common in hereditary breast cancer.
    • Gulbahce HE, Vanderwerf S, Blair C, Sweeney C.
    • Hum Pathol. 2014 Jan;45(1):78-84. doi: 10.1016/j.humpath.2013.08.008. Epub 2013 Oct 21.
    • 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 germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer.
    • Delon I, Taylor A, Molenda A, Drummond J, Oakhill K, Girling A, Liu H, Whittaker J, Treacy R, Tischkowitz M.
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    • Case report, Letter
    • Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India.
    • Chakraborty A, Mukhopadhyay A, Bhattacharyya D, Bose CK, Choudhuri K, Mukhopadhyay S, Basak J.
    • Fam Cancer. 2013 Sep;12(3):489-95. doi: 10.1007/s10689-012-9590-y.
    • [Characteristics of selected clinical features in BRCA1 mutation carriers affected with breast cancer undergoing preventive female genital tract surgeries].
    • Menkiszak J, Chudecka-Głaz A, Gronwald J, Bedner R, Cymbaluk-Płoska A, Wezowska M, Zielińska D, Rzepka-Górska I.
    • Ginekol Pol. 2013 Sep;84(9):758-64.
    • Association between BRCA Mutation Status, Pathological Findings, and Magnetic Resonance Imaging Features in Patients with Breast Cancer at Risk for the Mutation.
    • Noh JM, Han BK, Choi DH, Rhee SJ, Cho EY, Huh SJ, Park W, Park H, Nam SJ, Lee JE, Kil WH.
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    • Are bilateral breast cancers different from breast cancers coexisting with ovarian cancer? An immunohistochemical analysis aimed at intrinsic tumor phenotype.
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    • Breast. 2013 Aug;22(4):425-30. doi: 10.1016/j.breast.2013.04.005. Epub 2013 May 1.
    • Angiogenetic axis angiopoietins/Tie2 and VEGF in familial breast cancer.
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    • The complex genetic landscape of familial breast cancer.
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    • Review
    • Tuberin and p27 expression in breast cancer patients with or without BRCA germline mutations.
    • Dressler AC, Hudelist G, Fink-Retter A, Gschwantler-Kaulich D, Pfeiler G, Rosner M, Hengstschläger M, Singer CF.
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    • Tumour morphology predicts PALB2 germline mutation status.
    • Teo ZL, Provenzano E, Dite GS, Park DJ, Apicella C, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L; kConFab, Buys SS, Andrulis IL, Mulligan AM, Glendon G, John EM, Terry MB, Daly M, Odefrey FA, Nguyen-Dumont T, Giles GG, Dowty JG, Winship I, Goldgar DE, Hopper JL, Southey MC.
    • Br J Cancer. 2013 Jul 9;109(1):154-63. doi: 10.1038/bjc.2013.295. Epub 2013 Jun 20.
    • Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.
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    • Clin Cancer Res. 2013 Jul 1;19(13):3474-84. doi: 10.1158/1078-0432.CCR-13-0066. Epub 2013 Apr 30.

    Research news:

    Genomic signatures of BRCA1 but not BRCA2 associated high-grade serous carcinoma resemble basal-like breast cancer.

    • Clinical-pathologic significance of cancer stem cell marker expression in familial breast cancers.
    • Bane A, Viloria-Petit A, Pinnaduwage D, Mulligan AM, O'Malley FP, Andrulis IL.
    • Breast Cancer Res Treat. 2013 Jul;140(1):195-205. doi: 10.1007/s10549-013-2591-1. Epub 2013 Jun 28.
    • Breast Cancer Gene Mutations More Common in Black Women.
    • Johnson K.
    • Medscape Medical News. Conference News. 2013 Jun 6.
    • Breast cancer in women aged 25 years and younger.
    • Dimitrakakis C, Tsigginou A, Zagouri F, Marinopoulos S, Sergentanis TN, Keramopoulos A, Liakou P, Zografos GC, Papadimitriou CA, Dimopoulos MA, Antsaklis A.
    • Obstet Gynecol. 2013 Jun;121(6):1235-40. doi: 10.1097/AOG.0b013e318291ef9a.
    • BRCA1 mutations and luminal-basal transformation.
    • Ng T, Irshad S, Stebbing J.
    • Oncogene. 2013 May 30;32(22):2712-4. doi: 10.1038/onc.2012.379. Epub 2012 Aug 27.
    • Comment

    Germline mutation of Brca1 alters the fate of mammary luminal cells and causes luminal-to-basal mammary tumor transformation.

    • Germline mutation of Brca1 alters the fate of mammary luminal cells and causes luminal-to-basal mammary tumor transformation.
    • Bai F, Smith MD, Chan HL, Pei XH.
    • Oncogene. 2013 May 30;32(22):2715-25. doi: 10.1038/onc.2012.293. Epub 2012 Jul 9.

    Comment:

    BRCA1 mutations and luminal-basal transformation.

    • Prevalence of germline TP53 mutations in HER2+ breast cancer patients.
    • Rath MG, Masciari S, Gelman R, Miron A, Miron P, Foley K, Richardson AL, Krop IE, Verselis SJ, Dillon DA, Garber JE.
    • Breast Cancer Res Treat. 2013 May;139(1):193-8. doi: 10.1007/s10549-012-2375-z. Epub 2013 Apr 12.
    • 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.
    • Lipid metabolism genes in contralateral unaffected breast and estrogen receptor status of breast cancer.
    • Wang J, Scholtens D, Holko M, Ivancic D, Lee O, Hu H, Chatterton RT Jr, Sullivan ME, Hansen N, Bethke K, Zalles CM, Khan SA.
    • Cancer Prev Res (Phila). 2013 Apr;6(4):321-30. doi: 10.1158/1940-6207.CAPR-12-0304. Epub 2013 Mar 19.

    Press: Breast cancer gene test could allow preventive treatment. (The Telegraph)

    • Prevalence of BRCA1 and BRCA2 Germline Mutations in Breast Cancer Women of Multiple Ethnic Region in Northwest China.
    • Ou J, Wu T, Sijmons R, Ni D, Xu W, Upur H.
    • J Breast Cancer. 2013 Mar;16(1):50-4. doi: 10.4048/jbc.2013.16.1.50. Epub 2013 Mar 31.
    • [Expression of BRCA1 and WWOX and their clinicopathologic implication in breast carcinomas occurring in young women].
    • Zhang QL, Zhang QH, Cong H, Zhang XL.
    • Zhonghua Bing Li Xue Za Zhi. 2013 Feb;42(2):90-4. doi: 10.3760/cma.j.issn.0529-5807.2013.02.005.
    • [Article in Chinese]
    • 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.
    • First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.
    • Ripamonti CB, Colombo M, Mondini P, Siranoush M, Peissel B, Bernard L, Radice P, Carcangiu ML.
    • BMC Cancer. 2013 Feb 1;13:46. doi: 10.1186/1471-2407-13-46.
    • VEGF, HIF-1α expression and MVD as an angiogenic network in familial breast cancer.
    • http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0053070Saponaro C, Malfettone A, Ranieri G, Danza K, Simone G, Paradiso A, Mangia A.
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    • Paget disease of the breast with invasion from nipple skin into the dermis: an unusual type of skin invasion not associated with an adverse outcome.
    • Sanders MA, Dominici L, Denison C, Golshan M, Wiecorek T, Lester SC.
    • Arch Pathol Lab Med. 2013 Jan;137(1):72-6. doi: 10.5858/arpa.2011-0611-OA.
    • 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.
    • The penetrance of ductal carcinoma in situ among BRCA1 and BRCA2 mutation carriers.
    • Mazzola E, Cheng SC, Parmigiani G.
    • Breast Cancer Res Treat. 2013 Jan;137(1):315-8. doi: 10.1007/s10549-012-2345-5. Epub 2012 Nov 27.
    • Genotype in BRCA-associated Breast Cancers.
    • Meric-Bernstam F, Gutierrez-Barrera AM, Litton J, Mellor-Crummey L, Ready K, Gonzalez-Angulo AM, Lu KH, Hortobagyi GN, Arun BK.
    • Breast J. 2013 Jan;19(1):87-91. doi: 10.1111/tbj.12056. Epub 2012 Dec 10.
    • 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.
    • HOX gene methylation status analysis in patients with hereditary breast cancer.
    • Pilato B, Pinto R, De Summa S, Lambo R, Paradiso A, Tommasi S.
    • J Hum Genet. 2013 Jan;58(1):51-3. doi: 10.1038/jhg.2012.118. Epub 2012 Oct 11.
    • 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.

    • Triple-negative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer.
    • Phuah SY, Looi LM, Hassan N, Rhodes A, Dean S, Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Nov 2;14(6):R142. doi: 10.1186/bcr3347.
    • Tissue-based predictors of germ-line BRCA1 mutations: implications for triaging of genetic testing.
    • de la Cruz J, Andre F, Harrell RK, Bassett RL Jr, Arun B, Mathieu MC, Delaloge S, Gilcrease MZ.
    • Hum Pathol. 2012 Nov;43(11):1932-9. doi: 10.1016/j.humpath.2012.02.002. Epub 2012 May 14.
    • Pathologic features and immunophenotype of estrogen receptor-positive breast cancers in BRCA1 mutation carriers.
    • Kaplan JS, Schnitt SJ, Collins LC, Wang Y, Garber JE, Montgomery K, West RB, Krag K, Fetten K, Lincoln A, Tung NM.
    • Am J Surg Pathol. 2012 Oct;36(10):1483-8. doi: 10.1097/PAS.0b013e31825789ed.
    • Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry.
    • Dite GS, Makalic E, Schmidt DF, Giles GG, Hopper JL, Southey MC.
    • Breast Cancer Res. 2012 Aug 28;14(4):R122. doi: 10.1186/bcr3248.
    • The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer.
    • Jönsson G, Staaf J, Vallon-Christersson J, Ringnér M, Gruvberger-Saal SK, Saal LH, Holm K, Hegardt C, Arason A, Fagerholm R, Persson C, Grabau D, Johnsson E, Lövgren K, Magnusson L, Heikkilä P, Agnarsson BA, Johannsson OT, Malmström P, Fernö M, Olsson H, Loman N, Nevanlinna H, Barkardottir RB, Borg Å.
    • Cancer Res. 2012 Aug 15;72(16):4028-36. Epub 2012 Jun 15.
    • Comparison of the effects of genetic and environmental risk factors on in situ and invasive ductal breast cancer.
    • Reeves GK, Pirie K, Green J, Bull D, Beral V; For the Million Women Study Collaborators.
    • Int J Cancer. 2012 Aug 15;131(4):930-937. doi: 10.1002/ijc.26460. Epub 2011 Nov 28.
    • Molecular insights on basal-like breast cancer.
    • Valentin MD, da Silva SD, Privat M, Alaoui-Jamali M, Bignon YJ.
    • Breast Cancer Res Treat. 2012 Jul;134(1):21-30. doi: 10.1007/s10549-011-1934-z. Epub 2012 Jan 11.
    • Review
    • 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.
    • BRACking news on triple-negative/basal-like breast cancers: how BRCA1 deficiency may result in the development of a selective tumor subtype.
    • Santarosa M, Maestro R.
    • Cancer Metastasis Rev. 2012 Jun;31(1-2):131-42. doi: 10.1007/s10555-011-9336-6.
    • Review
    • 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.
    • BRCA1 and BRCA2: a common pathway of genome protection but different breast cancer subtypes.
    • Joosse SA.
    • Nat Rev Cancer. 2012 May 24;12(5):372. doi: 10.1038/nrc3181-c2.
    • Letter
    • Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer.
    • Domagala P, Wokolorczyk D, Cybulski C, Huzarski T, Lubinski J, Domagala W.
    • Breast Cancer Res Treat. 2012 Apr;132(3):937-45. Epub 2011 Jun 24.
    • 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.
    • Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.
    • Nagel JH, Peeters JK, Smid M, Sieuwerts AM, Wasielewski M, de Weerd V, Trapman-Jansen AM, van den Ouweland A, Brüggenwirth H, van Ijcken WF, Klijn JG, van der Spek PJ, Foekens JA, Martens JW, Schutte M, Meijers-Heijboer H.
    • Breast Cancer Res Treat. 2012 Apr;132(2):439-48. doi: 10.1007/s10549-011-1588-x. Epub 2011 May 26.
    • Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
    • Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL; OCGN, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P; SWE-BRCA, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB; HEBON, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE; EMBRACE, Bove B, Godwin AK, Stoppa-Lyonnet D; GEMO Study Collaborators, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G; kConFab investigators, Offit K, Simard J; Consortium of Investigators of Modifiers of BRCA1/2.
    • Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):645-57. doi: 10.1158/1055-9965.EPI-11-0888. Epub 2012 Feb 20.
    • Occurrence of breast cancer subtypes in adolescent and young adult women.
    • Keegan TH, Derouen MC, Press DJ, Kurian AW, Clarke CA.
    • Breast Cancer Res. 2012 Mar 27;14(2):R55.
    • Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.
    • Bayraktar S, Elsayegh N, Gutierrez Barrera AM, Lin H, Kuerer H, Tasbas T, Muse KI, Ready K, Litton J, Meric-Bernstam F, Hortobagyi GN, Albarracin CT, Arun B.
    • Cancer. 2012 Mar 15;118(6):1515-22. doi: 10.1002/cncr.26428. Epub 2011 Aug 25.

    Comments from NSGC Discussion Forum Cancer SIG

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

    • Clinical implications for BRCA gene mutation in breast cancer.
    • Xu J, Wang B, Zhang Y, Li R, Wang Y, Zhang S.
    • Mol Biol Rep. 2012 Mar;39(3):3097-102. doi: 10.1007/s11033-011-1073-y. Epub 2011 Jun 21.
    • Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
    • Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Lee A, Barrowdale D, Healey S, Sinilnikova OM, Caligo MA, Loman N, Harbst K, Lindblom A, Arver B, Rosenquist R, Karlsson P, Nathanson K, Domchek S, Rebbeck T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowowcka-Perłowska E, Osorio A, Durán M, Andrés R, Benítez J, Hamann U, Hogervorst FB, van Os TA, Verhoef S, Meijers-Heijboer HE, Wijnen J, Gómez Garcia EB, Ligtenberg MJ, Kriege M, Collée JM, Ausems MG, Oosterwijk JC, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Rogers MT, Donaldson A, Dorkins H, Godwin AK, Bove B, Stoppa-Lyonnet D, Houdayer C, Buecher B, de Pauw A, Mazoyer S, Calender A, Léoné M, Bressac-de Paillerets B, Caron O, Sobol H, Frenay M, Prieur F, Ferrer SU, Mortemousque I, Buys S, Daly M, Miron A, Terry MU, Hopper JL, John EM, Southey M, Goldgar D, Singer CF, Fink-Retter A, Tea MK, Kaulich DU, Hansen TV, Nielsen FC, Barkardottir RB, Gaudet M, Kirchhoff T, Joseph V, Dutra-Clarke A, Offit K, Piedmonte M, Kirk J, Cohn D, Hurteau J, Byron J, Fiorica J, Toland AE, Montagna M, Oliani C, Imyanitov E, Isaacs C, Tihomirova L, Blanco I, Lazaro C, Teulé A, Valle JD, Gayther SA, Odunsi K, Gross J, Karlan BY, Olah E, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EU, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Muranen TA, Lespérance B, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Loud JT, Andrulis IL, Ozcelik H, Mulligan AU, Glendon G, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Chenevix-Trench G, Couch FJ, Simard J, Easton DF; CIMBA, SWE-BRCA; HEBON; EMBRACE; GEMO Collaborators Study; kConFab Investigators.
    • Breast Cancer Res. 2012 Feb 20;14(1):R33.
    • Pathologic features and molecular phenotype by patient age in a large cohort of young women with breast cancer.
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    • Tetraploidy in BRCA2 breast tumours.
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    • 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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    • Cancer Epidemiol Biomarkers Prev. 2012 Jan;21(1):134-47. doi: 10.1158/1055-9965.EPI-11-0775. Epub 2011 Dec 5.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Article Request

    • Basal breast cancer: a complex and deadly molecular subtype.
    • Bertucci F, Finetti P, Birnbaum D.
    • Curr Mol Med. 2012 Jan;12(1):96-110.
    • The CHEK2 I157T variant and breast cancer susceptibility: a systematic review and meta-analysis.
    • Liu C, Wang Y, Wang QS, Wang YJ.
    • Asian Pac J Cancer Prev. 2012;13(4):1355-60.
    • CHEK2 gene alterations independently increase the risk of death from breast cancer in Bulgarian patients.
    • Angelova SG, Krasteva ME, Gospodinova ZI, Georgieva EI.
    • Neoplasma. 2012;59(6):622-30. doi: 10.4149/neo_2012_079.