Mutation Spectrum ~ Male BRCA / Breast Cancer
~ Genetics of Breast & Ovarian Cancer

Mutations reported in male breast cancer, of BRCA1/2 and of non-BRCA1/2 genes, other cancers associated with BRCA1/2 mutations in males

List was last updated on Jul 17, 2021 @ 2:06 pm.


    • Genetic Contribution to Metastatic Prostate Cancer.
    • Sokolova AO, Obeid EI, Cheng HH.
    • Urol Clin North Am. 2021 Aug;48(3):349-363. doi: 10.1016/j.ucl.2021.03.005. Epub 2021 Jun 10.
    • Review
    • Germline Predisposition to Prostate Cancer in Diverse Populations.
    • Bree KK, Henley PJ, Pettaway CA.
    • Urol Clin North Am. 2021 Aug;48(3):411-423. doi: 10.1016/j.ucl.2021.03.008. Epub 2021 Jun 12.
    • Review
    • 25-year perspective on prostate cancer: Conquering frontiers and understanding tumor biology.
    • Dorff TB, O'Neil B, Hoffman KE, Lin DW, Loughlin KR, Dall'Era M.
    • Urol Oncol. 2021 Jul 12:S1078-1439(21)00175-7. doi: 10.1016/j.urolonc.2021.04.016. Epub ahead of print.
    • Review
    • Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.
    • Salmi F, Maachi F, Tazzite A, Aboutaib R, Fekkak J, Azeddoug H, Jouhadi H.
    • PLoS One. 2021 Jul 9;16(7):e0254101. doi: 10.1371/journal.pone.0254101.
    • Study: Cancer risks of people with inherited PALB2 mutations.
    • [No author given]
    • FORCE. XRAY. 2021 Jul 1.

    Related:

    Original research:

    Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

    • Circulating tumor DNA reveals genetic traits of patients with intraductal carcinoma of the prostate.
    • Zhao J, Sun G, Zhu S, Dai J, Chen J, Zhang M, Ni Y, Zhang H, Shen P, Zhao X, Zhang B, Pan X, Nie L, Yin X, Liang J, Zhang X, Wang Z, Zhu X, Liao B, Liu Z, Armstrong CM, Gao AC, Huang H, Chen N, Zeng H.
    • BJU Int. 2021 Jun 29. doi: 10.1111/bju.15530. Epub ahead of print.
    • Das metastasierte kastrationsresistente Prostatakarzinom [Metastatic castration-resistant prostate cancer].
    • Henriques V, Wenzel M, Demes MC, Köllermann J.
    • Pathologe. 2021 Jun 25. German. doi: 10.1007/s00292-021-00956-3. Epub ahead of print.
    • Review. [Article in German]
    • The evolving role of germline genetic testing and management in prostate cancer: Report from the Princess Margaret Cancer Centre International Retreat.
    • Clark R, Kenk M, McAlpine K, Thain E, Farncombe KM, Pritchard CC, Nussbaum R, Wyatt AW, de Bono J, Vesprini D, Bombard Y, Lorentz J, Narod S, Kim R, Fleshner N.
    • Can Urol Assoc J. 2021 Jun 22. doi: 10.5489/cuaj.7383. Epub ahead of print.
    • A karboplatin-kemoterápia hatékonysága egy áttétes, kasztrációrezisztens, BRCA2-mutáció-pozitív prosztatarákos betegben. [Efficacy of carboplatin chemotherapy in a metastatic, castration-resistant, BRCA2 mutation positive prostate cancer patient.]
    • Nagy ND, Fazekas T, Baghy K, Papp G, Csizmarik A, Szucs M, Nyirády P, Szarvas T.
    • Orv Hetil. 2021 Jun 20;162(25):1004-1008. doi: 10.1556/650.2021.32112.
    • Germline Genetic Testing for All Patients With Cancer?
    • Nelson R.
    • Medscape Oncology. 2021 Jun 15.
    • Recent Insights on Genetic Testing in Primary Prostate Cancer.
    • Kafka M, Surcel C, Heidegger I.
    • Mol Diagn Ther. 2021 Jun 12. doi: 10.1007/s40291-021-00529-3. Epub ahead of print.
    • Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
    • Solano AR, Mele PG, Jalil FS, Liria NC, Podesta EJ, Gutiérrez LG.
    • Cancers (Basel). 2021 May 31;13(11):2711. doi: 10.3390/cancers13112711.
    • Circulating Tumor DNA Testing for Homology Recombination Repair Genes in Prostate Cancer: From the Lab to the Clinic.
    • Cimadamore A, Cheng L, Massari F, Santoni M, Pepi L, Franzese C, Scarpelli M, Lopez-Beltran A, Galosi AB, Montironi R.
    • Int J Mol Sci. 2021 May 24;22(11):5522. doi: 10.3390/ijms22115522.
    • Effect of cisplatin on metastatic castration-resistant prostate cancer with BRCA2 mutation: A case report.
    • Koguchi D, Tabata KI, Tsumura H, Mori K, Koh H, Iwamura M.
    • Urol Case Rep. 2021 May 17;38:101712. doi: 10.1016/j.eucr.2021.101712.
    • Prominent response to platinum-based chemotherapy in a patient with BRCA2 mutant-neuroendocrine prostate cancer and MDM2 amplification.
    • Daimon T, Kosaka T, Hongo H, Aimono E, Nakamura K, Mikami S, Nishihara H, Oya M.
    • IJU Case Rep. 2021 May 5;4(4):216-219. doi: 10.1002/iju5.12287.

    Related:

    Commentary:

    Editorial Comment to Prominent response to platinum-based chemotherapy in a patient with BRCA2 mutant-neuroendocrine prostate cancer and MDM2 amplification.

    • Male and female breast cancer: the two faces of the same genetic susceptibility coin.
    • Nunes Silva S, Costa Gomes B, André S, Félix A, Rodrigues AS, Rueff J.
    • Breast Cancer Res Treat. 2021 May 3. doi: 10.1007/s10549-021-06159-x. Epub ahead of print.
    • Combined Effect of a Polygenic Risk Score and Rare Genetic Variants on Prostate Cancer Risk.
    • Darst BF, Sheng X, Eeles RA, Kote-Jarai Z, Conti DV, Haiman CA.
    • Eur Urol. 2021 May 1:S0302-2838(21)00253-0. doi: 10.1016/j.eururo.2021.04.013. Epub ahead of print.
    • Family history and pathogenic/likely pathogenic germline variants in prostate cancer patients.
    • Sabol RA, Ledet EM, Jaeger E, Hatton W, Moses M, Lankford A, Zaheria A, Barata P, Layton JL, Lewis BE, Sartor O.
    • Prostate. 2021 May;81(7):427-432. doi: 10.1002/pros.24120. Epub 2021 Mar 24.
    • Comparison of germline mutations in African American and Caucasian men with metastatic prostate cancer.
    • Ledet EM, Burgess EF, Sokolova AO, Jaeger EB, Hatton W, Moses M, Miller P, Cotogno P, Layton J, Barata P, Lewis BE, Nakazawa M, Zhu J, Dellinger B, Elrefai S, Nafissi NN, Egan JB, Shore N, McKay RR, Bryce AH, Cheng HH, Antonarakis ES, Sartor O.
    • Prostate. 2021 May;81(7):433-439. doi: 10.1002/pros.24123. Epub 2021 Apr 1.
    • Germline Genetics of Prostate Cancer: Prevalence of Risk Variants and Clinical Implications for Disease Management.
    • Doan DK, Schmidt KT, Chau CH, Figg WD.
    • Cancers (Basel). 2021 Apr 29;13(9):2154. doi: 10.3390/cancers13092154.
    • Real-world genetic testing patterns in metastatic castration-resistant prostate cancer.
    • Shore N, Ionescu-Ittu R, Yang L, Laliberté F, Mahendran M, Lejeune D, Yu L, Burgents J, Duh MS, Ghate SR.
    • Future Oncol. 2021 Apr 28. doi: 10.2217/fon-2021-0153. Epub ahead of print.
    • Distinct Response to Platinum-Based Chemotherapy Among Patients With Metastatic Castration-Resistant Prostate Cancer Harboring Alterations in Genes Involved in Homologous Recombination.
    • Fan L, Fei X, Zhu Y, Chi C, Pan J, Sha J, Xin Z, Gong Y, Du X, Wang Y, Dong B, Xue W.
    • J Urol. 2021 Apr 27:101097JU0000000000001819. doi: 10.1097/JU.0000000000001819. Epub ahead of print.
    • Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.
    • Strojnik K, Krajc M, Dragos VS, Stegel V, Novakovic S, Blatnik A.
    • Breast Cancer Res Treat. 2021 Apr 23. doi: 10.1007/s10549-021-06224-5. Epub ahead of print.
    • The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology.
    • Nakken S, Lilleby W, Switlyk MD, Knudsen KE, Lilleby O, Zhao S, Kaveh F, Ekstrøm PO, Urbanucci A, Hovig E.
    • J Pers Med. 2021 Apr 22;11(5):330. doi: 10.3390/jpm11050330.
    • Impact of Pathogenic Germline DNA Damage Repair alterations on Response to Intense Neoadjuvant Androgen Deprivation Therapy in High-risk Localized Prostate Cancer.
    • Berchuck JE, Zhang Z, Silver R, Kwak L, Xie W, Lee GM, Freedman ML, Kibel AS, Van Allen EM, McKay RR, Taplin ME.
    • Eur Urol. 2021 Apr 19:S0302-2838(21)00237-2. doi: 10.1016/j.eururo.2021.03.031. Epub ahead of print.
    • Management and outcomes of men diagnosed with primary breast cancer.
    • Johnson AE, Coopey SB, Spring LM, Horick NK, Leone JP, Lin NU, Dominici LS, Hughes KS, Jimenez RB.
    • Breast Cancer Res Treat. 2021 Apr 8. doi: 10.1007/s10549-021-06174-y. Epub ahead of print.
    • Hereditary Prostate Cancer: Genes Related, Target Therapy and Prevention.
    • Vietri MT, D'Elia G, Caliendo G, Resse M, Casamassimi A, Passariello L, Albanese L, Cioffi M, Molinari AM.
    • Int J Mol Sci. 2021 Apr 4;22(7):3753. doi: 10.3390/ijms22073753.
    • Disease Spectrum of Breast Cancer Susceptibility Genes.
    • Wang J, Singh P, Yin K, Zhou J, Bao Y, Wu M, Pathak K, Mckinley SK, Braun D, Hughes KS.
    • Front Oncol. 2021 Mar 22;10:663419. doi: 10.3389/fonc.2021.663419.
    • Narrative review: predicting future molecular and clinical profiles of prostate cancer in the United States.
    • Santoni M, Cimadamore A, Massari F, Sorgentoni G, Cheng L, Lopez-Beltran A, Battelli N, Montironi R.
    • Transl Androl Urol. 2021 Mar;10(3):1562-1568. doi: 10.21037/tau-20-1439.
    • Treatment-emergent neuroendocrine prostate cancer with a germline BRCA2 mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistance.
    • Pandya D, Shah M, Kaplan F, Martino C, Levy G, Kazanjian M, Batter S, Martignetti J, Frank RC.
    • Cold Spring Harb Mol Case Stud. 2021 Feb 19;7(1):a005801. doi: 10.1101/mcs.a005801.
    • Identification of Germline Genetic Variants That Increase Prostate Cancer Risk and Influence Development of Aggressive Disease.
    • Saunders EJ, Kote-Jarai Z, Eeles RA.
    • Cancers (Basel). 2021 Feb 12;13(4):E760. doi: 10.3390/cancers13040760.
    • Genomic Analysis of Circulating Tumor DNA in 3,334 Patients with Advanced Prostate Cancer Identifies Targetable BRCA Alterations and AR Resistance Mechanisms.
    • Tukachinsky H, Madison RW, Chung JH, Gjoerup OV, Severson EA, Dennis L, Fendler BJ, Morley S, Zhong L, Graf RP, Ross JS, Alexander BM, Abida W, Chowdhury S, Ryan CJ, Fizazi K, Golsorkhi T, Watkins SP, Simmons A, Loehr A, Venstrom JM, Oxnard GR.
    • Clin Cancer Res. 2021 Feb 8. doi: 10.1158/1078-0432.CCR-20-4805. Epub ahead of print.

    Related:

    Commentary, Review:

    Liquid Biopsy: It's the Bloody Truth!

    • Management of a Prostate Cancer Patient with inherited germline BRCA1 and BRCA2 mutations, a Case Report.
    • Hemal S, DeWitt-Foy M, Klein EA.
    • Urology. 2021 Feb 5:S0090-4295(21)00120-5. doi: 10.1016/j.urology.2020.11.076. Epub ahead of print.
    • Case report
    • Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
    • Hall MJ, Bernhisel R, Hughes E, Larson K, Rosenthal ET, Singh NA, Lancaster JM, Kurian AW.
    • Cancer Prev Res (Phila). 2021 Jan 28:canprevres.0448.2020. doi: 10.1158/1940-6207.CAPR-20-0448. Epub ahead of print.
    • Genetic predisposition to prostate cancer: an update.
    • Raghallaigh HN, Eeles R.
    • Fam Cancer. 2021 Jan 24. doi: 10.1007/s10689-021-00227-3. Epub ahead of print.
    • ATM germline variants and male breast cancer.
    • Cunha R, Nejo P, Bento S, Vaz F.
    • BMJ Case Rep. 2021 Jan 18;14(1):e238100. doi: 10.1136/bcr-2020-238100.
    • Case report
    • Association between prostate cancer characteristics and BRCA1/2-associated family cancer history in a Japanese cohort.
    • Ishiyama Y, Shimbo M, Iizuka J, Deshpande G, Tanabe K, Hattori K.
    • PLoS One. 2020 Dec 22;15(12):e0244149. doi: 10.1371/journal.pone.0244149.
    • Systematic Literature Review of the Epidemiology of Advanced Prostate Cancer and Associated HRR Gene Alterations.
    • Shore N, Oliver L, Shui I, Gayle A, Wong OY, Kim J, Payne S, Amin S, Ghate S.
    • J Urol. 2020 Dec 17:101097JU0000000000001570. doi: 10.1097/JU.0000000000001570. Epub ahead of print.
    • Five Italian Families with Two Mutations in BRCA Genes.
    • Vietri MT, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Dello Ioio C, Cioffi M, Molinari AM.
    • Genes (Basel). 2020 Dec 3;11(12):E1451. doi: 10.3390/genes11121451.
    • DNA damage repair gene mutation testing and genetic counseling in men with/without prostate cancer: a systematic review.
    • Armstrong N, Quek RG, Ryder S, Ross J, Titas Buksnys, Forbes C, Fox KM, Castro E.
    • Future Oncol. 2020 Dec 2. doi: 10.2217/fon-2020-0569. Epub ahead of print.
    • Review
    • Genetic Testing Challenges in Oncology: BRCA2-Positive Healthy Young Man Recommended Mastectomy.
    • Ray T.
    • Precision Oncology News. 2020 Nov 25.
    • Case Report: Co-Existence of BRCA2 and PALB2 Germline Mutations in Familial Prostate Cancer With Solitary Lung Metastasis.
    • Tang T, Wang LA, Wang P, Tong D, Liu G, Zhang J, Dai N, Zhang Y, Yuan G, Geary K, Zhang D, Liu Q, Jiang J.
    • Front Oncol. 2020 Oct 26;10:564694. doi: 10.3389/fonc.2020.564694. PMID: 33194641; PMCID: PMC7649358.
    • Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.
    • Sun P, Li Y, Chao X, Li J, Luo R, Li M, He J.
    • BMC Cancer. 2020 Oct 14;20(1):994. doi: 10.1186/s12885-020-07481-1.
    • Prevalence of comprehensive DNA damage repair gene germline mutations in Chinese prostate cancer patients.
    • Wu J, Wei Y, Pan J, Jin S, Gu W, Gan H, Zhu Y, Ye D.
    • Int J Cancer. 2020 Oct 2. doi: 10.1002/ijc.33324. Epub ahead of print.
    • Impact of mutations in homologous recombination repair genes on treatment outcomes for metastatic castration resistant prostate cancer.
    • Carlson AS, Acevedo RI, Lim DM, Gulati R, Gawne A, Sokolova AO, Cheng HH, Nelson PS, Montgomery RB, Yu EY, Schweizer MT.
    • PLoS One. 2020 Sep 30;15(9):e0239686. doi: 10.1371/journal.pone.0239686.
    • Evaluation of a Mainstream Model of Genetic Testing for Men With Prostate Cancer.
    • Scheinberg T, Goodwin A, Ip E, Linton A, Mak B, Smith DP, Stockler MR, Strach MC, Tran B, Young AL, Zhang AY, Mahon KL, Horvath LG.
    • JCO Oncol Pract. 2020 Sep 24:OP2000399. doi: 10.1200/OP.20.00399. Epub ahead of print.
    • Family history of breast cancer in men with non-BRCA male breast cancer: implications for cancer risk counseling.
    • Calip GS, Kidd J, Bernhisel R, Cox HC, Saam J, Rauscher GH, Lancaster JM, Hoskins KF.
    • Breast Cancer Res Treat. 2020 Sep 11. doi: 10.1007/s10549-020-05922-w. Epub ahead of print.
    • Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
    • Wokolorczyk D, Kluzniak W, Huzarski T, Gronwald J, Szymiczek A, Rusak B, Stempa K, Gliniewicz K, Kashyap A, Morawska S, Debniak T, Jakubowska A, Szwiec M, Domagala P, Lubinski J, Narod SA, Akbari MR, Cybulski C, The Polish Hereditary Prostate Cancer Consortium.
    • Int J Cancer. 2020 Sep 11. doi: 10.1002/ijc.33272. [Epub ahead of print]
    • Poly (ADP-Ribose) Polymerase Inhibitor Activity in Prostate Cancers Harboring Mutations in DNA Repair Genes: Who Benefits?
    • Ganesan S, Garber J.
    • JCO Precis Oncol. 2020;4:1034. doi: 10.1200/PO.20.00269. Epub 2020 Sep 9.

    Related:

    Original research:

    Olaparib for Metastatic Castration-Resistant Prostate Cancer.

    Study record: Study of Olaparib (Lynparza™) Versus Enzalutamide or Abiraterone Acetate in Men With Metastatic Castration-Resistant Prostate Cancer (PROfound Study). (ClinicalTrials.gov)

    • Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.
    • Ben Kridis-Rejeb W, Ben Ayed-Guerfali D, Ammous-Boukhris N, Ayadi W, Kifagi C, Charfi S, Saguem I, Sellami-Boudawara T, Daoud J, Khanfir A, Mokdad-Gargouri R.
    • Mol Biol Rep. 2020 Sep 8. doi: 10.1007/s11033-020-05703-0. Epub ahead of print.
    • Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?
    • De Silva DL, Winship I.
    • BMJ Case Rep. 2020 Sep 7;13(9):e236435. doi: 10.1136/bcr-2020-236435.
    • BRCA Mutations in Prostate Cancer: Prognostic and Predictive Implications.
    • Messina C, Cattrini C, Soldato D, Vallome G, Caffo O, Castro E, Olmos D, Boccardo F, Zanardi E.
    • J Oncol. 2020 Sep 7;2020:4986365. doi: 10.1155/2020/4986365.
    • Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
    • Wokolorczyk D, Kluzniak W, Huzarski T, Gronwald J, Szymiczek A, Rusak B, Stempa K, Gliniewicz K, Kashyap A, Morawska S, Debniak T, Jakubowska A, Szwiec M, Domagala P, Lubinski J, Narod SA, Akbari MR, Cybulski C; Polish Hereditary Prostate Cancer Consortium.
    • Int J Cancer. 2020 Sep 1. doi: 10.1002/ijc.33272. Epub ahead of print.
    • BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.
    • Wang J, Qin J, Xi C, Zhang Y.
    • Mol Genet Genomic Med. 2020 Sep;8(9):e1411. doi: 10.1002/mgg3.1411. Epub 2020 Jul 20.
    • Male Breast Cancer in Togo: Imaging and Clinicopathological Findings.
    • Darre T, Tchaou M, Djiwa T, Simgban P, Amavi AK, N'Timon B, Amadou A, Bombonne M, Sama B, Amégbor K, Napo-Koura G.
    • Int J Breast Cancer. 2020 Aug 31;2020:3056067. doi: 10.1155/2020/3056067.
    • Imaging-based prostate cancer screening among BRCA mutation carriers-results from the first round of screening.
    • Segal N, Ber Y, Benjaminov O, Tamir S, Yakimov M, Kedar I, Rosenbaum E, Sela S, Ozalvo R, Shavit-Grievink L, Keder D, Baniel J, Margel D.
    • Ann Oncol. 2020 Aug 27:S0923-7534(20)39937-3. doi: 10.1016/j.annonc.2020.06.025. Epub ahead of print.
    • Germline sequencing DNA repair genes in 5,545 men with aggressive and non-aggressive prostate cancer.
    • Darst BF, Dadaev T, Saunders E, Sheng X, Wan P, Pooler L, Xia LY, Chanock S, Berndt SI, Gapstur SM, Stevens V, Albanes D, Weinstein SJ, Gnanapragasam V, Giles GG, Nguyen-Dumont T, Milne RL, Pomerantz M, Schmidt JA, Mucci L, Catalona WJ, Hetrickn KN, Doheny KF, MacInnis RJ, Southey MC, Eeles RA, Wiklund F, Kote-Jarai Z, Conti DV, Haiman CA.
    • J Natl Cancer Inst. 2020 Aug 27. pii: djaa032. doi: 10.1093/jnci/djaa132. [Epub ahead of print]
    • A Pilot Study on the Whole Exome Sequencing of Prostate Cancer in the Indian Phenotype Reveals Distinct Polymorphisms.
    • Gupta A, Shukla N, Nehra M, Gupta S, Malik B, Mishra AK, Vijay M, Batra J, Lohiya NK, Sharma D, Suravajhala P.
    • Front Genet. 2020 Aug 25;11:874. doi: 10.3389/fgene.2020.00874.
    • Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer.
    • Schaid DJ, McDonnell SK, FitzGerald LM, DeRycke L, Fogarty Z, Giles GG, MacInnis RJ, Southey MC, Nguyen-Dumont T, Cancel-Tassin G, Cussenot O, Whittemore AS, Sieh W, Ioannidis NM, Hsieh CL, Stanford JL, Schleutker J, Cropp CD, Carpten J, Hoegel J, Eeles R, Kote-Jarai Z, Ackerman MJ, Klein CJ, Mandal D, Cooney KA, Bailey-Wilson JE, Helfand B, Catalona WJ, Wiklund F, Riska S, Bahetti S, Larson MC, Cannon Albright L, Teerlink C, Xu J, Isaacs W, Ostrander EA, Thibodeau SN.
    • Eur Urol. 2020 Aug 13:S0302-2838(20)30614-X. doi: 10.1016/j.eururo.2020.07.038. Epub ahead of print.
    • Common susceptibility loci for male breast cancer.
    • Maguire S, Perraki E, Tomczyk K, Jones ME, Fletcher O, Pugh M, Winter T, Thompson K, Cooke R; kConFab Consortium, Trainer A, James P, Bojesen S, Flyger H, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Silvestri V, Hollestelle A, Hooning MJ, Novakovic S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Saloustros E, Georgoulias V, Easton DF, Pharoah P, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Ashworth A, Closas MG, Houlston R, Swerdlow A, Orr N.
    • J Natl Cancer Inst. 2020 Aug 12:djaa101. doi: 10.1093/jnci/djaa101. Epub ahead of print.
    • Male breast cancer risk assessment and screening recommendations in high risk men who undergo genetic counseling and multi-gene panel testing (MGPT).
    • Gaddam S, Heller SL, Babb JS, Gao Y.
    • Clin Breast Cancer. 2020 Jul 25:S1526-8209(20)30180-4. doi: 10.1016/j.clbc.2020.07.014. Epub ahead of print.
    • Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
    • Brandão A, Paulo P, Teixeira MR.
    • Int J Mol Sci. 2020 Jul 16;21(14):E5036. doi: 10.3390/ijms21145036.
    • A Case of Male Breast Cancer Patient with CHEK2*1100delC Mutation.
    • Nguyen QD, Tavana A, Saenz Rios F, Posleman Monetto FE, Robinson AS.
    • Cureus. 2020 Jul 2;12(7):e8972. doi: 10.7759/cureus.8972.
    • Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
    • Silvestri V, Leslie G, Barnes DR; and the CIMBA Group, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, Barrowdale D, Benitez J, Bonanni B, Borg A, Buys SS, Caldés T, Caligo MA, Capalbo C, Campbell I, Chung WK, Claes KBM, Colonna SV, Cortesi L, Couch FJ, de la Hoya M, Diez O, Ding YC, Domchek S, Easton DF, Ejlertsen B, Engel C, Evans DG, Feliubadalò L, Foretova L, Fostira F, Géczi L, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Hahnen E, Hogervorst FBL, Hopper JL, Hulick PJ, Isaacs C, Izquierdo A, James PA, Janavicius R, Jensen UB, John EM, Joseph V, Konstantopoulou I, Kurian AW, Kwong A, Landucci E, Lesueur F, Loud JT, Machackova E, Mai PL, Majidzadeh-A K, Manoukian S, Montagna M, Moserle L, Mulligan AM, Nathanson KL, Nevanlinna H, Ngeow Yuen Ye J, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Papi L, Park SK, Pedersen IS, Perez-Segura P, Petersen AH, Pinto P, Porfirio B, Pujana MA, Radice P, Rantala J, Rashid MU, Rosenzweig B, Rossing M, Santamariña M, Schmutzler RK, Senter L, Simard J, Singer CF, Solano AR, Southey MC, Steele L, Steinsnyder Z, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Teo SH, Terry MB, Thomassen M, Toland AE, Torres-Esquius S, Tung N, van Asperen CJ, Vega A, Viel A, Vierstraete J, Wappenschmidt B, Weitzel JN, Wieme G, Yoon SY, Zorn KK, McGuffog L, Parsons MT, Hamann U, Greene MH, Kirk JA, Neuhausen SL, Rebbeck TR, Tischkowitz M, Chenevix-Trench G, Antoniou AC, Friedman E, Ottini L.
    • JAMA Oncol. 2020 Jul 2. doi: 10.1001/jamaoncol.2020.2134. Epub ahead of print.
    • Germline Mutations in DNA Repair Genes in Patients With Metastatic Castration-resistant Prostate Cancer.
    • Holeckova K, Baluchova K, Hives M, Musak L, Kliment J Sr, Skerenova M.
    • In Vivo. 2020 Jul-Aug;34(4):1773-1778. doi: 10.21873/invivo.11971.
    • Re: Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
    • Taneja SS.
    • J Urol. 2020 Jun 26:101097JU000000000000117601. doi: 10.1097/JU.0000000000001176.01. Epub ahead of print.
    • Commentary

    Related:

    Original research:

    Association of Genomic Domains in BRCA1 and BRCA2 With Prostate Cancer Risk and Aggressiveness.

    • Multiple primary tumors: a case report and review of the literature.
    • Zhao Z, Sun K, Yan T, Wei R, Guo W.
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    • Re: Catherine H. Marshall, Alexandra O. Sokolova, Andrea L. McNatty, et al. Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2019.02.002.
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    • Letter, Commentary

    Related:

    Original research:

    Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.

    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
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    • Germline Mutations in ATM and BRCA1/2 Are Associated with Grade Reclassification in Men on Active Surveillance for Prostate Cancer.
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    • Eur Urol. 2019 May;75(5):743-749. doi: 10.1016/j.eururo.2018.09.021. Epub 2018 Oct 8.

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    Research news: DNA-Repair- Gene Mutations Linked to More Aggressive Prostate Cancer. (Medscape Oncology)

    • DNA damage repair alterations are frequent in prostatic adenocarcinomas with focal pleomorphic giant-cell features.
    • Lotan TL, Kaur HB, Alharbi AM, Pritchard CC, Epstein JI.
    • Histopathology. 2019 May;74(6):836-843. doi: 10.1111/his.13806. Epub 2019 Apr 1.
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    • Metachronous Contralateral Male Breast Cancer: Case Report and Literature Review.
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    • Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance.
    • Horak P, Weischenfeldt J, von Amsberg G, Beyer B, Schütte A, Uhrig S, Gieldon L, Klink B, Feuerbach L, Hübschmann D, Kreutzfeldt S, Heining C, Maier S, Hutter B, Penzel R, Schlesner M, Eils R, Sauter G, Stenzinger A, Brors B, Schröck E, Glimm H, Fröhling S, Schlomm T.
    • Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003657. doi: 10.1101/mcs.a003657. Print 2019 Apr.
    • Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines.
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    • JAMA Oncol. 2019 Apr 1;5(4):523-528. doi: 10.1001/jamaoncol.2018.6760.

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    Press: Expanding Genetic Testing for Prostate Cancer Could Improve Patient Management. (Medscape Oncology)

    • Metronomic Oral Cyclophosphamide in 2 Heavily Pretreated Patients With Metastatic Castration-resistant Prostate Cancer With Homologous Recombination Deficiency (HRD): A Case Report.
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    • Clin Genitourin Cancer. 2019 Apr;17(2):157-160. doi: 10.1016/j.clgc.2018.12.005. Epub 2018 Dec 19.
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    • The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis.
    • Oh M, Alkhushaym N, Fallatah S, Althaghfi A, Aljadeed R, Alsowaida Y, Jeter J, Martin JR, Babiker HM, McBride A, Abraham I.
    • Prostate. 2019 Mar 22. doi: 10.1002/pros.23795. [Epub ahead of print]
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    • BRCA2 and Other DDR Genes in Prostate Cancer.
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    • Cancers (Basel). 2019 Mar 12;11(3). pii: E352. doi: 10.3390/cancers11030352.
    • Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing.
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    • Prostate. 2019 Mar;79(4):333-339. doi: 10.1002/pros.23739. Epub 2018 Nov 18.
    • Prevalence of DNA repair gene mutations in localized prostate cancer according to clinical and pathologic features: association of Gleason score and tumor stage.
    • Marshall CH, Fu W, Wang H, Baras AS, Lotan TL, Antonarakis ES.
    • Prostate Cancer Prostatic Dis. 2019 Mar;22(1):59-65. doi: 10.1038/s41391-018-0086-1. Epub 2018 Aug 31.
    • Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.
    • Marshall CH, Sokolova AO, McNatty AL, Cheng HH, Eisenberger MA, Bryce AH, Schweizer MT, Antonarakis ES.
    • Eur Urol. 2019 Feb 20. pii: S0302-2838(19)30110-1. doi: 10.1016/j.eururo.2019.02.002. [Epub ahead of print]
    • PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer.
    • Castro E, Romero-Laorden N, Del Pozo A, Lozano R, Medina A, Puente J, Piulats JM, Lorente D, Saez MI, Morales-Barrera R, Gonzalez-Billalabeitia E, Cendón Y, García-Carbonero I, Borrega P, Mendez Vidal MJ, Montesa A, Nombela P, Fernández-Parra E, Gonzalez Del Alba A, Villa-Guzmán JC, Ibáñez K, Rodriguez-Vida A, Magraner-Pardo L, Perez-Valderrama B, Vallespín E, Gallardo E, Vazquez S, Pritchard CC, Lapunzina P, Olmos D.
    • J Clin Oncol. 2019 Feb 20;37(6):490-503. doi: 10.1200/JCO.18.00358. Epub 2019 Jan 9.
    • Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.
    • Leongamornlert DA, Saunders EJ, Wakerell S, Whitmore I, Dadaev T, Cieza-Borrella C, Benafif S, Brook MN, Donovan JL, Hamdy FC, Neal DE, Muir K, Govindasami K, Conti DV, Kote-Jarai Z, Eeles RA.
    • Eur Urol. 2019 Feb 15. pii: S0302-2838(19)30096-X. doi: 10.1016/j.eururo.2019.01.050. [Epub ahead of print]

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    Press: Numerous DNA-Repair Genes Associated With Prostate-Cancer Risk. (Medscape Oncology)

    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
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    • BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina.
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    • A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy.
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    • DNA Repair Gene Alterations and PARP Inhibitor Response in Patients With Metastatic Castration-Resistant Prostate Cancer.
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    • Malignant Abnormalities in Male BRCA Mutation Carriers: Results From a Prospectively Screened Cohort.
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    Research news:

    Plasma DNA and Metastatic Castration-Resistant Prostate Cancer: The Odyssey to a Clinical Biomarker Test.

    • Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
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    • Comment

    Related:

    Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

    • Male Breast Cancer: Epidemiology and Risk Factors.
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    • Commentary

    Related:

    Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

    • Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
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    • J Clin Oncol. 2017 Jul 10;35(20):2240-2250. doi: 10.1200/JCO.2016.69.4935. Epub 2017 Apr 27.

    Related:

    Editorial:

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

    • Relevance of DNA damage repair in the management of prostate cancer.
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    • Eur Urol. 2017 Jul;72(1):34-42. doi: 10.1016/j.eururo.2017.02.023. Epub 2017 Mar 1.
    • Primary Peritoneal Serous Carcinoma in Men: A Rare and Non-BRCA-associated Entity.
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    • Re: Inherited DNA-repair Gene Mutations in Men with Metastatic Prostate Cancer.
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    • Comment
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    • Letter, Commentary

    Related:

    Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

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    • Breast Cancer Res Treat. 2017 Feb;161(3):575-586. doi: 10.1007/s10549-016-4085-4. Epub 2016 Dec 22.
    • Re: Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
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    • Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas.
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    • PLoS One. 2016 Aug 17;11(8):e0161438. doi: 10.1371/journal.pone.0161438.
    • Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
    • Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS.
    • N Engl J Med. 2016 Aug 4;375(5):443-53. doi: 10.1056/NEJMoa1603144. Epub 2016 Jul 6.

    Related:

    See PubMed abstract for multiple related items.

    Related:

    News:

    High frequency of gene mutations in metastatic prostate cancer.

    Comment:

    Commentary on: "Inherited DNA-repair gene mutations in men with metastatic prostate cancer." Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016 Aug 4;375(5):443-53.

    Comment:

    Re: Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

    Letter, Commentary:

    Should we Perform Genetic Testing on Men with Metastatic Prostate Cancer?

    Commentary:

    Commentary on "Inherited DNA-repair gene mutations in men with metastatic prostate cancer". Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016;375(5):443-53.

    News Release: Testing for inherited mutations could benefit men with advanced prostate cancer. (Fred Hutch)

    Press: Genetic testing can help deliver precision medicine to men with advanced prostate cancer. (Science Daily)

    Press: Metastatic Prostate Cancer Needs Genetic Testing; Here's Why. (Medscape Oncology)

    Blog post: All Men with Metastatic Prostate Cancer Should Have Genetic Testing. (Michigan Health. Lab Report.)

    • RAD51B in Familial Breast Cancer.
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    • The Significance of Proteomic Biomarkers in Male Breast Cancer.
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    • Breast Cancer Res. 2016 Feb 9;18(1):15. doi: 10.1186/s13058-016-0671-y.

    Related:

    Blog post: New insights into the role of gender in breast cancer development. (On Medicine)

    • Caring for Patients With Prostate Cancer Who Are BRCA Positive.
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    • A Case of Male Breast Cancer with a BRCA Gene Mutation.
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    • BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.
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    • Case report, Review
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    • Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: Results from a multicenter study in Italy.
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    • A novel PALB2 truncating mutation in an Italian family with male breast cancer.
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    • Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer.
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    • Association of SULT1A1 Arg(213)His polymorphism with male breast cancer risk: results from a multicenter study in Italy.
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    • Breast Cancer Res Treat. 2014 Dec;148(3):623-8. doi: 10.1007/s10549-014-3193-2. Epub 2014 Nov 11.
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    • Erel S, Thull DL, Soran A.
    • J Breast Health (2013). 2014 Oct 1;10(4):189. doi: 10.5152/tjbh.2014.0079. eCollection 2014.

    Related:

    Breast-cancer risk in families with mutations in PALB2.

    • Breast-cancer risk in families with mutations in PALB2.
    • Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M.
    • N Engl J Med. 2014 Aug 7;371(6):497-506. doi: 10.1056/NEJMoa1400382.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Negative for familial PALB2 mutation

    Subject: Initial and reflex testing to guide surgical decisions

    Comment, Editorial

    PALB2 mutations and breast-cancer risk.

    Letters

    Breast-cancer risk in families with mutations in PALB2.

    Letter, Review:

    Partner and Localizer of BRCA-2 (PALB-2) Mutation Analysis Is Rapidly Being Adopted into Clinical Practice.

    Research News: PALB2 and Breast Cancer Risk (FORCE)

    Press: New breast cancer gene mutation found to raise risk. (Yahoo! News)

    Press: Another Gene Mutation Increases Breast Cancer Risk. (Medscape Oncology)

    Press: PALB2 gene dramatically increases breast cancer risk. (PHG Foundation)

    Press: Study Shows Third Gene as Indicator for Breast Cancer (NY Times)

    • Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.
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    • Genetic predisposition to breast cancer: The next chapters.
    • Boyd J.
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    Related:

    Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.

    • Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.
    • Fernandes PH, Saam J, Peterson J, Hughes E, Kaldate R, Cummings S, Theisen A, Chen S, Trost J, Roa BB.
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    Related:

    Editorial, Commentary:

    Genetic predisposition to breast cancer: The next chapters.

    • Neurofibromatosis type I with breast cancer: not only for women!
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    • Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy.
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    • Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.
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    • Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas.
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    • Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
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    News: Genetic link to male breast cancer. (Lancet Oncology)

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    • Son BH, Ahn SH, Kim SW, Kang E, Park SK, Lee MH, Noh WC, Kim LS, Jung Y, Kim KS, Noh DY, Moon BI, Suh YJ, Lee JE, Choi DH, Kim SY, Jung SH, Yom CK, Lee H, Yang JH; KOHBRA Research Group and Korean Breast Cancer Society.
    • Breast Cancer Res Treat. 2012 Jun;133(3):1143-52. doi: 10.1007/s10549-012-2001-0. Epub 2012 Mar 2.
    • Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
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    • Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7.
    • Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
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    • Breast Cancer Res Treat. 2012 Feb;132(1):307-15. doi: 10.1007/s10549-011-1842-2. Epub 2011 Nov 4.