• Response to bipolar androgen therapy and PD-1 inhibition in a patient with metastatic castration-resistant prostate cancer and a germline CHEK2 mutation.
    • Berger BT, Labriola MK, Antonarakis ES, Armstrong AJ.
    • BMJ Case Rep. 2023 Jan 18;16(1):e251320. doi: 10.1136/bcr-2022-251320.
    • Case report
    • Molecular characteristics of Asian male BRCA-related cancers.
    • Kwong A, Ho CYS, Shin VY, Ng ATL, Chan TL, Ma ESK.
    • Breast Cancer Res Treat. 2023 Jan 13. doi: 10.1007/s10549-022-06651-y. Epub ahead of print.
    • Implementation of a Telehealth Genetic Testing Station to Deliver Germline Testing for Men With Prostate Cancer.
    • Kwon DH, Gordon KM, Tong B, Borno HT, Beigh M, Fattah D, Schleicher A, Aggarwal RR, Blanco AM, Small EJ, Dhawan M.
    • JCO Oncol Pract. 2023 Jan 12:OP2200638. doi: 10.1200/OP.22.00638. Epub ahead of print.

    Related:

    •• Commentary:

    Germline Testing in Prostate Cancer: Implementation and Disparities of Care.

    • Prostate cancer risk, screening and management in patients with germline BRCA1/2 mutations.
    • Rajwa P, Quhal F, Pradere B, Gandaglia G, Ploussard G, Leapman MS, Gore JL, Paradysz A, Tilki D, Merseburger AS, Morgan TM, Briganti A, Palapattu GS, Shariat SF.
    • Nat Rev Urol. 2023 Jan 4. doi: 10.1038/s41585-022-00680-4. Epub ahead of print.
    • Review
    • Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
    • Cioffi A, De Cobelli O, Veronesi P, La Vecchia C, Maisonneuve P, Corso G.
    • Cancers (Basel). 2023 Jan 2;15(1):306. doi: 10.3390/cancers15010306.
    • How the Analysis of the Pathogenetic Variants of DDR Genes Will Change the Management of Prostate Cancer Patients.
    • Sciarra A, Frisenda M, Bevilacqua G, Gentilucci A, Cattarino S, Mariotti G, Del Giudice F, Di Pierro GB, Viscuso P, Casale P, I. Chung BI, Autorino R, Crivellaro S, Salciccia S.
    • Int J Mol Sci. 2022 Dec 30;24(1):674. doi: 10.3390/ijms24010674.
    • Clinicopathological features, genetic alterations, and BRCA1 promoter methylation in Japanese male patients with breast cancer.
    • Shimomura A, Yoshida M, Kubo T, Yamashita S, Noguchi E, Nagayama A, Hanamura T, Okazaki M, Mukohara T, Tsuruga A, Tanaka K, Kawamura Y, Higuchi T, Takahashi Y, Kurozumi S, Hayashida T, Ichikawa H, Ushijima T, Suto A.
    • Breast Cancer Res Treat. 2022 Dec 9. doi: 10.1007/s10549-022-06822-x. Epub ahead of print.
    • CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer.
    • Nyberg T, Brook MN, Ficorella L, Lee A, Dennis J, Yang X, Wilcox N, Dadaev T, Govindasami K, Lush M, Leslie G, Lophatananon A, Muir K, Bancroft E, Easton DF, Tischkowitz M, Kote-Jarai Z, Eeles R, Antoniou AC.
    • J Clin Oncol. 2022 Dec 9:JCO2201453. doi: 10.1200/JCO.22.01453. Epub ahead of print.

    Related:

    •• Press: Tool Accurately Predicts Risk of Developing Prostate Cancer. (Inside Precision Medicine)

    • Dr. George on the Use of Niraparib for Patients With BRCA and ATM Mutations in mCRPC.
    • George DJ.
    • OncLive. OncLive TV. 2022 Dec 9.

    Related:

    •• Identifier: NCT02854436: An Efficacy and Safety Study of Niraparib in Men With Metastatic Castration-Resistant Prostate Cancer and DNA-Repair Anomalies (Galahad). (ClinicalTrials.gov . Accessed 2022 Dec 10.)

    • Detection of BRCA1, and BRCA2 in Matched Tumor Tissue and Circulating Cell-Free DNA in Patients with Prostate Cancer in a Real-World Setting.
    • McFarland TR, Thomas VM, Nussenzveig R, Gebrael G, Sayegh N, Tripathi N, Sahu KK, Goel D, Maughan BL, Sirohi D, Agarwal N, Swami U.
    • Biomedicines. 2022 Dec 7;10(12):3170. doi: 10.3390/biomedicines10123170.
    • Genetic Predisposition to Male Breast Cancer: A Case Series.
    • Apessos A, Agiannitopoulos K, Pepe G, Tsaousis GN, Pitta P, Bili C, Florentin L, Saloustros E, Kampletsas E, Tryfonopoulos D, Tsoukalas N, Bournakis E, Zagouri F, Kotsakis A, Koumarianou A, Korantzis I, Boukovinas I, Lypas G, Fountzilas G, Michalaki V, Xynogalos S, Linardou H, Papadopoulou E, Nasioulas G, Georgoulias V.
    • Anticancer Res. 2022 Dec;42(12):5795-5801. doi: 10.21873/anticanres.16086.
    • The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
    • Yang Y, Zhang G, Hu C, Luo W, Jiang H, Liu S, Yang H.
    • BMC Urol. 2022 Nov 30;22(1):196. doi: 10.1186/s12894-022-01141-1.
    • Clinical Application of Poly(ADP-ribose) Polymerase (PARP) Inhibitors in Prostate Cancer.
    • Inderjeeth AJ, Topp M, Sanij E, Castro E, Sandhu S.
    • Cancers (Basel). 2022 Nov 30;14(23):5922. doi: 10.3390/cancers14235922.
    • Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.
    • Trendowski MR, Sample C, Baird T, Sadeghpour A, Moon D, Ruterbusch JJ, Beebe-Dimmer JL, Cooney KA.
    • JCO Precis Oncol. 2022 Nov [2022 Nov 29];6:e2200460. doi: 10.1200/PO.22.00460.

    Related:

    •• Research news: Genetic Variants Linked to Prostate Cancer in Black Men Identified. (Inside Precision Medicine)

    •• Research news: Genetic Variants Could Predict Prostate Cancer Risk in Black Men. (Inside Precision Medicine)

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review
    • Prostate Cancer Has High Rate of Actionable Mutations, Underscoring Need for Testing.
    • Rosa K, Antonarakis ES.
    • OncLive. 2022 Nov 11.
    • The prevalence of gene mutations in homologous recombination repair pathways in Japanese patients with metastatic castration-resistant prostate cancer in real-world clinical practice: The multi-institutional observational ZENSHIN study.
    • Uemura H, Oya M, Kamoto T, Sugimoto M, Shinozaki K, Morita K, Koto R, Takahashi M, Nii M, Shin E, Nonomura N.
    • Cancer Med. 2022 Nov 10. doi: 10.1002/cam4.5333. Epub ahead of print.
    • A case of metastatic treatment-emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation diagnosed by liver biopsy.
    • Naiki T, Naiki-Ito A, Kawai T, Komatsu H, Nishikawa R, Gonda M, Aoki M, Sugiyama Y, Tasaki Y, Yasui T.
    • IJU Case Rep. 2022 Jun 29 [eCollection 2022 Nov];5(6):431-435. doi: 10.1002/iju5.12501.

    Related:

    •• Commentary:

    Editorial Comment from Dr Sekino and Dr Hinata to A case of metastatic treatment emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation diagnosed by liver biopsy.

    •• Commentary:

    Editorial Comment from Dr Kato to A case of metastatic treatment-emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation by liver biopsy.

    • Prostate cancer recurring as small-cell carcinoma with a BRCA2 somatic mutation.
    • Yabusaki R, Yoshimura K, Taku K, Suzuki M.
    • IJU Case Rep. 2022 Aug 12 [eCollection 2022 Nov];5(6):489-492. doi: 10.1002/iju5.12523.
    • Germline mutations in 5' to c.7914 of BRCA2 significantly increase risk of prostate cancer.
    • Ruan XH, Huang D, Lin XL, Fang ZJ, Ding Q, Wu YS, Na R.
    • Asian J Androl. 2022 Oct 28. doi: 10.4103/aja202277. Epub ahead of print.
    • Prognostic Role of DNA Damage Response Genes Mutations and their Association With the Sensitivity of Olaparib in Prostate Cancer Patients.
    • Zhang D, Xu X, Wei Y, Chen X, Li G, Lu Z, Zhang X, Ren X, Wang S, Qin C.
    • Cancer Control. 2022 Jan-Dec [2022 Oct 25];29:10732748221129451. doi: 10.1177/10732748221129451.
    • Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample.
    • Shim Y, Lee J, Seo J, Park CK, Shin S, Han H, Lee ST, Choi JR, Chung BH, Choi YD.
    • Cancer Cell Int. 2022 Oct 8;22(1):306. doi: 10.1186/s12935-022-02728-2.
    • Initial outcomes and insights from a novel high-risk prostate cancer screening clinic.
    • Harper JB, Greenberg SE, Hunt TC, Cooney KA, O'Neil BB.
    • Prostate. 2022 Oct 7. doi: 10.1002/pros.24447. Epub ahead of print.
    • Comparison of Clinical, Pathological, and Prognostic Features in BRCA Mutant and Wild-Type Male Breast Cancer Patients.
    • Dogan I, Aydin E, Yazici H, Saip P.
    • Eur J Breast Health. 2022 Oct 1;18(4):323-328. doi: 10.4274/ejbh.galenos.2022.2022-5-2.
    • PARP Inhibitors in Advanced Prostate Cancer in Tumors with DNA Damage Signatures.
    • McNevin CS, Cadoo K, Baird AM, Finn SP, McDermott R.
    • Cancers (Basel). 2022 Sep 29;14(19):4751. doi: 10.3390/cancers14194751.
    • Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
    • D’Elia G, Caliendo G, Tzioni MM, Albanese L, Passariello L, Molinari AM, Vietri MT.
    • Genes (Basel). 2022 Sep 21;13(10):1692. doi: 10.3390/genes13101692.
    • Risk of developing a second primary cancer in male breast cancer survivors: a systematic review and meta-analysis.
    • Allen I, Hassan H, Sofianopoulou E, Eccles D, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC.
    • Br J Cancer. 2022 Sep 17. doi: 10.1038/s41416-022-01940-1. Epub ahead of print.
    • Prostate cancer transcriptomic regulation by the interplay of germline risk alleles, somatic mutations and 3D-genomic architecture.
    • Yuan J, Houlahan KE, Ramanand SG, Lee S, Baek G, Yang Y, Chen Y, Strand DW, Zhang MQ, Boutros PC, Mani RS.
    • Cancer Discov. 2022 Sep 15:CD-22-0027. doi: 10.1158/2159-8290.CD-22-0027. Epub ahead of print.
    • Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer.
    • Truong H, Breen K, Nandakumar S, Sjoberg DD, Kemel Y, Mehta N, Lenis AT, Reisz PA, Carruthers J, Benfante N, Joseph V, Khurram A, Gopalan A, Fine SW, Reuter VE, Vickers AJ, Birsoy O, Liu Y, Walsh M, Latham A, Mandelker D, Stadler ZK, Pietzak E, Ehdaie B, Touijer KA, Laudone VP, Slovin SF, Autio KA, Danila DC, Rathkopf DE, Eastham JA, Chen Y, Morris MJ, Offit K, Solit DB, Scher HI, Abida W, Robson ME, Carlo MI.
    • Eur Urol. 2022 Sep 14:S0302-2838(22)02619-7. doi: 10.1016/j.eururo.2022.08.028. Epub ahead of print.
    • Addition of Germline Testing to Tumor-Only Sequencing Improves Detection of Pathogenic Germline Variants in Men With Advanced Prostate Cancer.
    • Berchuck JE, Boiarsky D, Silver R, Sunkara R, McClure HM, Tsai HK, Siegmund S, Tewari AK, Nowak JA, Lindeman NI, Rana HQ, Choudhury AD, Pomerantz MM, Freedman ML, Van Allen EM, Taplin ME.
    • JCO Precis Oncol. 2022 Aug [2022 Sep 14];6:e2200329. doi: 10.1200/PO.22.00329.

    Related:

    Identifier: NCT03328091: Genetic Counseling Processes and Outcomes Among Males With Prostate Cancer (ProGen) (ProGen). (ClinicalTrials.gov)

    • Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.
    • Liang Y, Chiu PK, Zhu Y, Wong CY, Xiong Q, Wang L, Teoh JY, Cao Q, Wei Y, Ye DW, Tsui SK, Ng CF.
    • PLoS Genet. 2022 Sep 12;18(9):e1010373. doi: 10.1371/journal.pgen.1010373.
    • Novel germline mutations for active surveillance and imaging strategies in prostate cancer.
    • Mondschein R, Taylor R, Thorne H, Bolton D.
    • Curr Opin Urol. 2022 Sep 1;32(5):456-461. doi: 10.1097/MOU.0000000000001024. Epub 2022 Jul 18.
    • Review
    • DNA damage repair gene germline profiling for metastatic prostate cancer patients of different ancestries.
    • Abdi B, Basset N, Perrot E, Benderra MA, Khalil A, Oudard S, Blanchet P, Brureau L, Coulet F, Cussenot O, Cancel-Tassin G.
    • Prostate. 2022 Sep;82(12):1196-1201. doi: 10.1002/pros.24374. Epub 2022 Jun 2.
    • The impact of genetic aberrations on response to radium-223 treatment for castration-resistant prostate cancer with bone metastases.
    • Liu AJ, Kosiorek HE, Ueberroth BE, Jaeger E, Ledet E, Kendi AT, Tzou K, Quevedo F, Choo R, Moore CN, Ho TH, Singh P, Keole SR, Wong WW, Sartor O, Bryce AH.
    • Prostate. 2022 Sep;82(12):1202-1209. doi: 10.1002/pros.24375. Epub 2022 Jun 2.
    • Inherited risk assessment and its clinical utility for predicting prostate cancer from diagnostic prostate biopsies.
    • Xu J, Resurreccion WK, Shi Z, Wei J, Wang CH, Zheng SL, Hulick PJ, Ross AE, Pavlovich CP, Helfand BT, Isaacs WB.
    • Prostate Cancer Prostatic Dis. 2022 Sep;25(3):422-430. doi: 10.1038/s41391-021-00458-6. Epub 2022 Mar 28.
    • Review
    • Germline alterations among Hispanic men with prostate cancer.
    • Pan E, Shaya J, Madlensky L, Randall JM, Javier-Desloges J, Millard FE, Rose B, Parsons JK, Nielsen SM, Hatchell KE, Esplin ED, Nussbaum RL, Weise N, Murphy J, Martinez ME, McKay RR.
    • Prostate Cancer Prostatic Dis. 2022 Sep;25(3):561-567. doi: 10.1038/s41391-022-00517-6. Epub 2022 Feb 28.
    • Computational Biology of BRCA2 in Male Breast Cancer, through Prediction of Probable nsSNPs, and Hit Identification.
    • Shinde SD, Satpute DP, Behera SK, Kumar D.
    • ACS Omega. 2022 Aug 17 [eCollection 2022 Aug 30];7(34):30447-30461. doi: 10.1021/acsomega.2c03851.
    • Prognostic significance of pathogenic variants in BRCA1, BRCA2, ATM and PALB2 genes in men undergoing hormonal therapy for advanced prostate cancer.
    • Kimura H, Mizuno K, Shiota M, Narita S, Terada N, Fujimoto N, Ogura K, Hatano S, Iwasaki Y, Hakozaki N, Ishitoya S, Sumiyoshi T, Goto T, Kobayashi T, Nakagawa H, Kamoto T, Eto M, Habuchi T, Ogawa O, Momozawa Y, Akamatsu S.
    • Br J Cancer. 2022 Aug 19. doi: 10.1038/s41416-022-01915-2. Epub ahead of print.
    • BRCA Mutations in Ovarian and Prostate Cancer: Bench to Bedside.
    • Boussios S, Rassy E, Moschetta M, Ghose A, Adeleke S, Sanchez E, Sheriff M, Chargari C, Pavlidis N.
    • Cancers (Basel). 2022 Aug 11;14(16):3888. doi: 10.3390/cancers14163888.
    • Germline genetics of prostate cancer.
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    • Prostate. 2022 Aug;82 Suppl 1:S3-S12. doi: 10.1002/pros.24340.
    • Clinical implications of homologous recombination repair mutations in prostate cancer.
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    • Prostate. 2022 Aug;82 Suppl 1:S45-S59. doi: 10.1002/pros.24352.
    • Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.
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    • Cancers (Basel). 2022 Jul 26;14(15):3623. doi: 10.3390/cancers14153623.
    • Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
    • Rolfes M, Borde J, Möllenhoff K, Kayali M, Ernst C, Gehrig A, Sutter C, Ramser J, Niederacher D, Horváth J, Arnold N, Meindl A, Auber B, Rump A, Wang-Gohrke S, Ritter J, Hentschel J, Thiele H, Altmüller J, Nürnberg P, Rhiem K, Engel C, Wappenschmidt B, Schmutzler RK, Hahnen E, Hauke J.
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    • The Prognostic Significance of Homologous Recombination Repair Pathway Alterations in Metastatic Hormone Sensitive Prostate Cancer.
    • Lee AM, Saidian A, Shaya J, Nonato T, Cabal A, Randall JM, Millard F, Stewart T, Rose B, Tamayo P, McKay RR.
    • Clin Genitourin Cancer. 2022 Jun 30:S1558-7673(22)00141-0. doi: 10.1016/j.clgc.2022.06.016. Epub ahead of print.
    • PALB2 or BARD1 loss confers homologous recombination deficiency and PARP inhibitor sensitivity in prostate cancer.
    • Dillon KM, Bekele RT, Sztupinszki Z, Hanlon T, Rafiei S, Szallasi Z, Choudhury AD, Mouw KW.
    • NPJ Precis Oncol. 2022 Jun 29;6(1):49. doi: 10.1038/s41698-022-00291-7.
    • Analysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast Cancer.
    • McClurg DP, Urquhart G, McGoldrick T, Chatterji S, Miedzybrodzka Z, Speirs V, Elsberger B.
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    • An Update on the General Features of Breast Cancer in Male Patients—A Literature Review.
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    • A systematic literature review of the management, oncological outcomes and psychosocial implications of male breast cancer.
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    • Review
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    • Hereditary Cancer Gene Variants in Hispanic Men With a Personal or Family History of Prostate Cancer.
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    • Clin Genitourin Cancer. 2022 Jun;20(3):237-243. doi: 10.1016/j.clgc.2022.01.008. Epub 2022 Jan 14.
    • Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
    • Lee DJ, Hausler R, Le AN, Kelly G, Powers J, Ding J, Feld E, Desai H, Morrison C, Doucette A, Gabriel P, Genetics Center R, Judy RL, Weaver J, Kember R, Damrauer SM, Rader DJ, Domchek SM, Narayan V, Schwartz LE, Maxwell KN.
    • Eur Urol. 2022 Jun;81(6):559-567. doi: 10.1016/j.eururo.2021.09.029. Epub 2021 Oct 25.
    • Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men.
    • Heise M, Jarzemski P, Nowak D, Bak A, Junkiert-Czarnecka A, Pilarska-Deltow M, Borysiak M, Pilarska B, Haus O.
    • Cancer Control. 2022 Jan-Dec [2022 May 31];29:10732748211062342. doi: 10.1177/10732748211062342.
    • Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes.
    • Carnevali I, Tedaldi G, Pensotti V, Sahnane N, Micello D, Rovera F, Sessa F, Tibiletti MG.
    • Front Oncol. 2022 May 24;12:891426. doi: 10.3389/fonc.2022.891426.
    • Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines.
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    Related:

    Commentary:

    Paired Tumor-Germline Testing as a Driver in Better Cancer Care.

    • Implications of DNA damage repair alterations for the management of prostate cancer.
    • Lozano R, Olmos D, Castro E.
    • Curr Opin Urol. 2022 May 1;32(3):302-310. doi: 10.1097/MOU.0000000000000983. Epub 2022 Mar 9.
    • Review
    • Germline pathogenic variants in unselected Korean men with prostate cancer.
    • So MK, Ahn HK, Huh J, Kim KH.
    • Investig Clin Urol. 2022 May;63(3):294-300. doi: 10.4111/icu.20220044.
    • Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing.
    • Giri VN, Hartman R, Pritzlaff M, Horton C, Keith SW.
    • JCO Precis Oncol. 2022 May;6(1):e2200234. doi: 10.1200/PO.22.00234.
    • Homologous Recombination Repair Gene Variants and Outcomes Among Patients With Prostate Cancer Treated With Poly (ADP-ribose) Polymerase Inhibitors.
    • Price MJ, Vashistha V, Winski D, Kelley MJ, Bitting RL, Montgomery B.
    • JCO Precis Oncol. 2022 Apr [Published online: 2022 Apr 27];6:e2100461. doi: 10.1200/PO.21.00461.
    • Germline mutations in penetrant cancer predisposition genes are rare in men with prostate cancer selecting active surveillance.
    • Brady L, Newcomb LF, Zhu K, Zheng Y, Boyer H, Sarkar N, McKenney JK, Brooks JD, Carroll PR, Dash A, Ellis WJ, Filson CP, Gleave ME, Liss MA, Martin F, Morgan TM, Thompson IM, Wagner AA, Pritchard CC, Lin DW, Nelson PS.
    • Cancer Med. 2022 Apr 25. doi: 10.1002/cam4.4778. Epub ahead of print.
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    • Outcomes of Patients with Metastatic Castration-Resistant Prostate Cancer According to Somatic Damage DNA Repair Gene Alterations.
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    • Clinical Utility of Liquid Biopsy to Identify Genomic Heterogeneity and Secondary Cancer Diagnoses: A Case Report.
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    • Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.
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    • Pain and health-related quality of life with olaparib versus physician's choice of next-generation hormonal drug in patients with metastatic castration-resistant prostate cancer with homologous recombination repair gene alterations (PROfound): an open-label, randomised, phase 3 trial.
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    • Front Oncol. 2021 Aug 20;11:674965. doi: 10.3389/fonc.2021.674965.
    • 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.
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    • Letter, Comment

    Related:

    Review:

    Clinical Implications of Germline Testing in Newly Diagnosed Prostate Cancer.

    • Is olaparib cost effective in metastatic castration-resistant prostate cancer patients with at least one favorable gene mutation in BRCA1, BRCA2 or ATM?
    • Li Y, Lin S, Zhong L, Luo S, Huang X, Huang X, Dong L, Xu X, Weng X.
    • Pharmacogenomics. 2021 Aug;22(13):809-819. doi: 10.2217/pgs-2021-0061. Epub 2021 Sep 14.
    • Genetic Contribution to Metastatic Prostate Cancer.
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    • 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
    • Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
    • Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.
    • J Natl Cancer Inst. 2021 Jul 28:djab147. doi: 10.1093/jnci/djab147. Epub ahead of print.
    • Genetic Landscape of Male Breast Cancer.
    • Campos FAB, Rouleau E, Torrezan GT, Carraro DM, Casali da Rocha JC, Mantovani HK, da Silva LR, Osório CABT, Moraes Sanches S, Caputo SM, Santana Dos Santos E.
    • Cancers (Basel). 2021 Jul 15;13(14):3535. doi: 10.3390/cancers13143535.
    • PARP inhibitors in advanced prostate cancer: when to use them?
    • Díaz-Mejía N, García-Illescas D, Morales-Barrera R, Suarez C, Planas J, Maldonado X, Carles J, Mateo J.
    • Endocr Relat Cancer. 2021 Jul 15;28(8):T79-T93. doi: 10.1530/ERC-21-0133.
    • Impact of DNA damage repair defects on response to PSMA radioligand therapy in metastatic castration-resistant prostate cancer.
    • Privé BM, Slootbeek PHJ, Laarhuis BI, Naga SP, van der Doelen MJ, van Kalmthout LWM, de Keizer B, Ezziddin S, Kratochwil C, Morgenstern A, Bruchertseifer F, Ligtenberg MJL, Witjes JA, van Oort IM, Gotthardt M, Heskamp S, Janssen MJR, Gerritsen WR, Nagarajah J, Mehra N.
    • Prostate Cancer Prostatic Dis. 2021 Jul 12. doi: 10.1038/s41391-021-00424-2. Epub ahead of print.
    • 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.
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    • 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.

    • Testing for BRCA1/2 and ataxiatelangiectasia mutated in men with high prostate indices: An approach to reducing prostate cancer mortality in Asia and Africa.
    • Okoye JO.
    • Asian J Urol. 2021 Jul;8(3):335-336. doi: 10.1016/j.ajur.2020.08.002. Epub 2020 Aug 22.

    Related:

    Original research:

    Current progress and questions in germline genetics of prostate cancer.

    • Male and female breast cancer: the two faces of the same genetic susceptibility coin.
    • Silva SN, Gomes BC, André S, Félix A, Rodrigues AS, Rueff J.
    • Breast Cancer Res Treat. 2021 Jul;188(1):295-305. doi: 10.1007/s10549-021-06159-x. Epub 2021 May 3.
    • 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.
    • Differential treatment outcomes in BRCA1/2-, CDK12-, and ATM-mutated metastatic castration-resistant prostate cancer.
    • Kwon DH, Chou J, Yip SM, Reimers MA, Zhang L, Wright F, Dhawan MS, Borno HT, Desai A, Aggarwal RR, Wyatt AW, Small EJ, Alva AS, Chi KN, Feng FY, Koshkin VS.
    • Cancer. 2021 Jun 15;127(12):1965-1973. doi: 10.1002/cncr.33487. Epub 2021 Mar 10.
    • 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.
    • BRCA Germline Mutations in Prostate Cancer: The Future Is Tailored.
    • Crocetto F, Barone B, Caputo VF, Fontana M, de Cobelli O, Ferro M.
    • Diagnostics (Basel). 2021 May 19;11(5):908. doi: 10.3390/diagnostics11050908.
    • 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.

    • Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive 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, Hetrick KN, Doheny KF, MacInnis RJ, Southey MC, Eeles RA, Wiklund F, Kote-Jarai Z, Conti DV, Haiman CA.
    • J Natl Cancer Inst. 2021 May 4;113(5):616-625. doi: 10.1093/jnci/djaa132.
    • 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.

    Related:

    Commentary:

    Incorporation of Polygenic Risk Score into Guidelines for Inherited Risk Assessment for Prostate Cancer.

    • Aberrations of DNA repair pathways in prostate cancer: A cornerstone of precision oncology.
    • Boussios S, Rassy E, Shah S, Ioannidou E, Sheriff M, Pavlidis N.
    • Expert Opin Ther Targets. 2021 May;25(5):329-333. doi: 10.1080/14728222.2021.1951226. Epub 2021 Jul 8.
    • 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.
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    • Re: Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
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    • J Urol. 2020 Jun 26:101097JU000000000000117601. doi: 10.1097/JU.0000000000001176.01. Epub ahead of print.
    • Commentary

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    • Multiple primary tumors: a case report and review of the literature.
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    • Diagnosing hereditary cancer predisposition in men with prostate cancer.
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    • The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
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    • JCO Precis Oncol. 2020;4:355-366. doi: 10.1200/po.19.00346. Epub 2020 Apr 16.

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    Commentary:

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    • Analysis of Epigenetic Alterations in Homologous Recombination DNA Repair Genes in Male Breast Cancer.
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    Related:

    Research news: Study: Cancer risks of people with inherited PALB2 mutations (FORCE. XRAY.)

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    Related:

    Commentary:

    Re: Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

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    Related:

    Commentary:

    New name for breast-cancer syndrome could help to save lives.

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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.
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    Related:

    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.
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    Related:

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

    Press: Expanded Germline Panel Testing in Cancer Patients Catches Risk Variants Missed by Focused Tests. (GenomeWeb)

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    Related:

    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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    • Asian J Urol. 2019 Jan;6(1):3-9. doi: 10.1016/j.ajur.2018.10.001. Epub 2018 Nov 2.

    Related:

    Comment, Letter:

    Testing for BRCA1/2 and ataxiatelangiectasia mutated in men with high prostate indices: An approach to reducing prostate cancer mortality in Asia and Africa.

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    Related:

    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.
    • Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, Akama Y, Inuzuka M, Nomizu T, Enomoto T, Nakamura S.
    • J Hum Genet. 2018 Apr;63(4):447-457. doi: 10.1038/s10038-017-0355-1. Epub 2017 Nov 8.
    • Rare germline mutations in African American men diagnosed with early-onset prostate cancer.
    • Beebe-Dimmer JL, Zuhlke KA, Johnson AM, Liesman D, Cooney KA.
    • Prostate. 2018 Apr;78(5):321-326. doi: 10.1002/pros.23464. Epub 2018 Jan 21.
    • Germline BRCA mutation in male carriers-ripe for precision oncology?
    • Leão RRN, Price AJ, James Hamilton R.
    • Prostate Cancer Prostatic Dis. 2018 Apr;21(1):48-56. doi: 10.1038/s41391-017-0018-5. Epub 2017 Dec 14.
    • Review
    • Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.
    • Eng KH, Szender JB, Etter JL, Kaur J, Poblete S, Huang RY, Zhu Q, Grzesik KA, Battaglia S, Cannioto R, Krolewski JJ, Zsiros E, Frederick PJ, Lele SB, Moysich KB, Odunsi KO.
    • PLoS Genet. 2018 Feb 15;14(2):e1007194. doi: 10.1371/journal.pgen.1007194. eCollection 2018 Feb.
    • Acquired Resistance to Poly (ADP-ribose) Polymerase Inhibitor Olaparib in BRCA2-Associated Prostate Cancer Resulting From Biallelic BRCA2 Reversion Mutations Restores Both Germline and Somatic Loss-of-Function Mutations.
    • Carneiro BA, Collier KA, Nagy RJ, Pamarthy S, Sagar V, Fairclough S, Odegaard J, Lanman RB, Costa R, Taxter T, Kuzel TM, Fan A, Chae YK, Cristofanilli M, Hussain MH, Abdulkadir SA, Giles FJ.
    • JCO Precis Oncol. 2018;2:PO.17.00176. doi: 10.1200/PO.17.00176. Epub 2018 Feb 14.

    Related:

    Commentary:

    Tumor Suppressor Tolerance: Reversion Mutations in BRCA1 and BRCA2 and Resistance to PARP Inhibitors and Platinum.

    Case report:

    Polyclonal BRCA2 Reversion Mutations Detected in Circulating Tumor DNA After Platinum Chemotherapy in a Patient With Metastatic Prostate Cancer.

    • Male BRCA mutation carriers: clinical characteristics and cancer spectrum.
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    • Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.
    • Adamsheck HC, Petty EM, Hong J, Baker MW, Brilliant MH, Mailick MR.
    • J Genet Couns. 2017 Dec;26(6):1401-1410. doi: 10.1007/s10897-017-0116-5. Epub 2017 Jun 30.
    • Is there a difference in testosterone levels and its regulators in men carrying BRCA mutations?
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    • CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
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    • 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.
    • Lee BH.
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    • Comment

    Related:

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

    • Male Breast Cancer: Epidemiology and Risk Factors.
    • Abdelwahab Yousef AJ.
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    • Review
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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.
    • Banks P, Xu W, Murphy D, James P, Sandhu S.
    • Curr Probl Cancer. 2017 Jul - Aug;41(4):287-301. doi: 10.1016/j.currproblcancer.2017.06.001. Epub 2017 Jun 27.
    • Review
    • Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.
    • Annala M, Struss WJ, Warner EW, Beja K, Vandekerkhove G, Wong A, Khalaf D, Seppälä IL, So A, Lo G, Aggarwal R, Small EJ, Nykter M, Gleave ME, Chi KN, Wyatt AW.
    • 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.
    • Neuhausen SL, Shani H, Boker LK, Steele L, Silverman BG, Ottini L, Silvestri V, Laitman Y, Korach J, Perri T, Friedman E.
    • Anticancer Res. 2017 Jun;37(6):3069-3072.
    • Re: Inherited DNA-repair Gene Mutations in Men with Metastatic Prostate Cancer.
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    • Eur Urol. 2017 Apr;71(4):692. doi: 10.1016/j.eururo.2016.12.018. Epub 2017 Jan 6.
    • Comment
    • Should we Perform Genetic Testing on Men with Metastatic Prostate Cancer?
    • Mikropoulos C.
    • Clin Oncol (R Coll Radiol). 2017 Mar;29(3):e92. doi: 10.1016/j.clon.2016.10.004. Epub 2016 Oct 25.
    • Letter, Commentary

    Related:

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

    • BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India.
    • Venkateshwari A, Clark DW, Nallari P, Vinod C, Kumarasamy T, Reddy G, Jyothy A, Kumar MV, Ramaiyer R, Palle K.
    • J Breast Cancer. 2017 Mar;20(1):104-107. doi: 10.4048/jbc.2017.20.1.104. Epub 2017 Mar 24.
    • Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
    • Pritzlaff M, Summerour P, McFarland R, Li S, Reineke P, Dolinsky JS, Goldgar DE, Shimelis H, Couch FJ, Chao EC, LaDuca H.
    • Breast Cancer Res Treat. 2017 Feb;161(3):575-586. doi: 10.1007/s10549-016-4085-4. Epub 2016 Dec 22.
    • Re: Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
    • Taneja SS.
    • J Urol. 2017 Feb;197(2):399-400. doi: 10.1016/j.juro.2016.11.070. Epub 2016 Nov 16.
    • Male Breast Cancer.
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    • Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
    • Silvestri V, Zelli V, Valentini V, Rizzolo P, Navazio AS, Coppa A, Agata S, Oliani C, Barana D, Castrignanò T, Viel A, Russo A, Tibiletti MG, Zanna I, Masala G, Cortesi L, Manoukian S, Azzollini J, Peissel B, Bonanni B, Peterlongo P, Radice P, Palli D, Giannini G, Chillemi G, Montagna M, Ottini L.
    • Cancer. 2017 Jan 1;123(2):210-218. doi: 10.1002/cncr.30337. Epub 2016 Sep 20.
    • Whole-exome sequencing of Finnish hereditary breast cancer families.
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    • Eur J Hum Genet. 2017 Jan;25(1):85-93. doi: 10.1038/ejhg.2016.141. Epub 2016 Oct 26.
    • [A Case of Male Hereditary Breast Cancer Involving a Sentinel Lymph Node Biopsy].
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    • Case report [Article in Japanese]
    • First case report of an adrenocortical carcinoma caused by a BRCA2 mutation.
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    • Medicine (Baltimore). 2016 Sep;95(36):e4756. doi: 10.1097/MD.0000000000004756.
    • 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.
    • Pinto P, Peixoto A, Santos C, Rocha P, Pinto C, Pinheiro M, Leça L, Martins AT, Ferreira V, Bartosch C, Teixeira MR.
    • 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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    • PLoS One. 2016 May 5;11(5):e0153788. doi: 10.1371/journal.pone.0153788. eCollection 2016.
    • The Significance of Proteomic Biomarkers in Male Breast Cancer.
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    • Male breast cancer is not congruent with the female disease.
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    • Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.
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    • Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
    • Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, Rantala J, Yoon SY, Caligo MA, Spugnesi L, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Toland AE, Senter L, Andrulis IL, Glendon G, Hulick PJ, Imyanitov EN, Greene MH, Mai PL, Singer CF, Rappaport-Fuerhauser C, Kramer G, Vijai J, Offit K, Robson M, Lincoln A, Jacobs L, Machackova E, Foretova L, Navratilova M, Vasickova P, Couch FJ, Hallberg E, Ruddy KJ, Sharma P, Kim SW; kConFab Investigators, Teixeira MR, Pinto P, Montagna M, Matricardi L, Arason A, Johannsson OT, Barkardottir RB, Jakubowska A, Lubinski J, Izquierdo A, Pujana MA, Balmaña J, Diez O, Ivady G, Papp J, Olah E, Kwong A; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna H, Aittomäki K, Perez Segura P, Caldes T, Van Maerken T, Poppe B, Claes KB, Isaacs C, Elan C, Lasset C, Stoppa-Lyonnet D, Barjhoux L, Belotti M, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Kast K, Arnold N, Varon-Mateeva R, Wand D, Godwin AK, Evans DG, Frost D, Perkins J, Adlard J, Izatt L, Platte R, Eeles R, Ellis S; EMBRACE, Hamann U, Garber J, Fostira F, Fountzilas G, Pasini B, Giannini G, Rizzolo P, Russo A, Cortesi L, Papi L, Varesco L, Palli D, Zanna I, Savarese A, Radice P, Manoukian S, Peissel B, Barile M, Bonanni B, Viel A, Pensotti V, Tommasi S, Peterlongo P, Weitzel JN, Osorio A, Benitez J, McGuffog L, Healey S, Gerdes AM, Ejlertsen B, Hansen TV, Steele L, Ding YC, Tung N, Janavicius R, Goldgar DE, Buys SS, Daly MB, Bane A, Terry MB, John EM, Southey M, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L.
    • 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.
    • Hartzfeld D, Berse B, Lowrance W, Dash A, Brawer M, Lawrence J, Meyer L, Lynch J.
    • Fed Pract. 2016 Feb;33(Suppl 1):46S-51S.
    • Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2.
    • Roed Nielsen H, Petersen J, Therkildsen C, Skytte AB, Nilbert M.
    • Acta Oncol. 2016;55(1):38-44. doi: 10.3109/0284186X.2015.1067714. Epub 2015 Sep 11.
    • A Case of Male Breast Cancer with a BRCA Gene Mutation.
    • Benjamin MA, Riker AI.
    • Ochsner J. 2015 Winter;15(4):448-51.
    • BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.
    • de Juan I, Palanca S, Domenech A, Feliubadaló L, Segura Á, Osorio A, Chirivella I, de la Hoya M, Sánchez AB, Infante M, Tena I, Díez O, Garcia-Casado Z, Vega A, Teulé À, Barroso A, Pérez P, Durán M, Carrasco E, Juan-Fita MJ, Murria R, Llop M, Barragan E, Izquierdo Á, Benítez J, Caldés T, Salas D, Bolufer P.
    • Fam Cancer. 2015 Dec;14(4):505-13. doi: 10.1007/s10689-015-9814-z.
    • BRCA1 gene variant p.P142H associated with male breast cancer: a two-generation genealogic study and literature review.
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    • Fam Cancer. 2015 Dec;14(4):515-9. doi: 10.1007/s10689-015-9819-7.
    • Case report, Review
    • Adenosquamous Carcinoma of the Pancreas in a Patient with BRCA2 Mutation: A Case Report.
    • Yeung V, Palmer JD, Williams N, Weinstein JC, Fortuna D, Sama A, Winter J, Bar-Ad V.
    • Case Rep Pancreat Cancer. 2015 Nov 1;1(1):22-25. doi: 10.1089/crpc.2015.29003.vye. eCollection 2015.
    • 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.
    • Silvestri V, Rizzolo P, Scarnò M, Chillemi G, Navazio AS, Valentini V, Zelli V, Zanna I, Saieva C, Masala G, Bianchi S, Manoukian S, Barile M, Pensotti V, Peterlongo P, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Viel A, Montagna M, Radice P, Palli D, Ottini L.
    • Eur J Cancer. 2015 Nov;51(16):2289-95. doi: 10.1016/j.ejca.2015.07.020. Epub 2015 Aug 3.
    • A novel PALB2 truncating mutation in an Italian family with male breast cancer.
    • Vietri MT, Caliendo G, Casamassimi A, Cioffi M, De Paola ML, Napoli C, Molinari AM.
    • Oncol Rep. 2015 Mar;33(3):1243-7. doi: 10.3892/or.2014.3685. Epub 2014 Dec 22.
    • Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer.
    • Timoteo AR, Albuquerque BM, Moura PC, Ramos CC, Agnez-Lima LF, Walsh T, King MC, Lajus TB.
    • Hered Cancer Clin Pract. 2015 Jan 16;13(1):2. doi: 10.1186/s13053-014-0022-x. eCollection 2015.
    • Association of SULT1A1 Arg(213)His polymorphism with male breast cancer risk: results from a multicenter study in Italy.
    • Ottini L, Rizzolo P, Zanna I, Silvestri V, Saieva C, Falchetti M, Masala G, Navazio AS, Capalbo C, Bianchi S, Manoukian S, Barile M, Peterlongo P, Caligo MA, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Cini G, Montagna M, Radice P, Palli D.
    • Breast Cancer Res Treat. 2014 Dec;148(3):623-8. doi: 10.1007/s10549-014-3193-2. Epub 2014 Nov 11.
    • Partner and Localizer of BRCA-2 (PALB-2) Mutation Analysis Is Rapidly Being Adopted into Clinical Practice.
    • 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.
    • Guaoua S, Ratbi I, Lyahyai J, El Alaoui SC, Laarabi FZ, Sefiani A.
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    • Association of BRCA2 variants with cardiovascular disease in Saudi Arabia.
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    • Genet Mol Res. 2014 May 16;13(2):3876-84. doi: 10.4238/2014.May.16.13.
    • Genetic predisposition to breast cancer: The next chapters.
    • Boyd J.
    • Cancer. 2014 Apr 1;120(7):932-4. doi: 10.1002/cncr.28503. Epub 2014 Jan 10.

    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.
    • Cancer. 2014 Apr 1;120(7):963-7. doi: 10.1002/cncr.28504. Epub 2014 Jan 10.

    Related:

    Editorial, Commentary:

    Genetic predisposition to breast cancer: The next chapters.

    • Neurofibromatosis type I with breast cancer: not only for women!
    • Lakshmaiah KC, Kumar AN, Purohit S, Viveka BK, Rajan KR, Zameer MA, Namitha P, Saini ML, Azim HA Jr, Saini KS.
    • Hered Cancer Clin Pract. 2014 Feb 24;12(1):5. doi: 10.1186/1897-4287-12-5.
    • Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy.
    • Ottini L, Silvestri V, Saieva C, Rizzolo P, Zanna I, Falchetti M, Masala G, Navazio AS, Graziano V, Bianchi S, Manoukian S, Barile M, Peterlongo P, D'Amico C, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Viel A, Montagna M, Radice P, Palli D.
    • Breast Cancer Res Treat. 2013 Apr;138(3):861-8. doi: 10.1007/s10549-013-2459-4. Epub 2013 Mar 7.
    • 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.
    • Orr N, Lemnrau A, Cooke R, Fletcher O, Tomczyk K, Jones M, Johnson N, Lord CJ, Mitsopoulos C, Zvelebil M, McDade SS, Buck G, Blancher C; KConFab Consortium, Trainer AH, James PA, Bojesen SE, Bokmand S, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Giannini G, Hollestelle A, Ouweland AM, Novaković S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Easton DF, Pharoah PD, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Houlston RS, Garcia-Closas M, Ashworth A, Swerdlow AJ.
    • Nat Genet. 2012 Sep 23;44(11):1182-4. doi: 10.1038/ng.2417. Epub 2012 Sep 23.

    Related:

    News: Genetic link to male breast cancer. (Lancet Oncology)

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