A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy

References

• American Society of Clinical O: The State of Cancer Care in America, 2017: A Report by the American Society of Clinical Oncology. J Oncol Pract. 2017; 13(4): p. e353–e394.
   Google Scholar
• Edwards SM, Eeles RA. Unravelling the genetics of prostate cancer. Am J Med Genet C Semin Med Genet. 2004;129C(1):65–73. doi:10.1002/ajmg.c.30027. PMID:15264274.
   PubMed Web of Science ®Google Scholar
• Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K. Environmental and heritable factors in the causation of cancer–analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343(2):78–85. doi:10.1056/NEJM200007133430201. PMID:10891514.
   PubMed Web of Science ®Google Scholar
• Cremers RG, Aben KK, van Oort IM, Sedelaar JP, Vasen HF, Vermeulen SH, Kiemeney LA. The clinical phenotype of hereditary versus sporadic prostate cancer: HPC definition revisited. The Prostate. 2016;76(10):897–904. doi:10.1002/pros.23179. PMID:26989049.
   PubMed Web of Science ®Google Scholar
• Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA, Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J. Jugurnauth-Little S, et al. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet. 2013;45(4):385–391, 391e381–382. doi:10.1038/ng.2560.
   PubMed Web of Science ®Google Scholar
• Roy R, Chun J, Powell SN. BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat Rev Cancer. 2011;12(1):68–78. doi:10.1038/nrc3181. PMID:22193408.
   PubMed Web of Science ®Google Scholar
• King MC, Marks JH, Mandell JB. New York Breast Cancer Study G: Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302(5645):643–6. doi:10.1126/science.1088759. PMID:14576434.
   PubMed Web of Science ®Google Scholar
• Levy-Lahad E, Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2007;96(1):11–15. doi:10.1038/sj.bjc.6603535. PMID:17213823.
   PubMed Web of Science ®Google Scholar
• Kote-Jarai Z, Leongamornlert D, Saunders E, Tymrakiewicz M, Castro E, Mahmud N, Guy M, Edwards S, O'Brien L, Sawyer E, et al. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. Br J Cancer. 2011;105(8):1230–4. doi:10.1038/bjc.2011.383. PMID:21952622.
   PubMed Web of Science ®Google Scholar
• Leongamornlert D, Mahmud N, Tymrakiewicz M, Saunders E, Dadaev T, Castro E, Goh C, Govindasami K, Guy M, O'Brien L, et al. Germline BRCA1 mutations increase prostate cancer risk. Br J Cancer. 2012;106(10):1697–701. doi:10.1038/bjc.2012.146. PMID:22516946.
   PubMed Web of Science ®Google Scholar
• Thompson D, Easton D, Breast Cancer Linkage C. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet. 2001;68(2):410–9. doi:10.1086/318181. PMID:11170890.
   PubMed Web of Science ®Google Scholar
• Breast Cancer Linkage C. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91(15):1310–6. doi:10.1093/jnci/91.15.1310. PMID:10433620.
   PubMedGoogle Scholar
• Castro E, Goh C, Leongamornlert D, Saunders E, Tymrakiewicz M, Dadaev T, Govindasami K, Guy M, Ellis S, Frost D, et al. Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer. Eur Urol. 2015;68(2):186–93. doi:10.1016/j.eururo.2014.10.022. PMID:25454609.
   PubMed Web of Science ®Google Scholar
• Mitra A, Fisher C, Foster CS, Jameson C, Barbachanno Y, Bartlett J, Bancroft E, Doherty R, Kote-Jarai Z, Peock S, et al. Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype. Br J Cancer. 2008;98(2):502–7. doi:10.1038/sj.bjc.6604132. PMID:18182994.
   PubMed Web of Science ®Google Scholar
• Castro E, Goh C, Olmos D, Saunders E, Leongamornlert D, Tymrakiewicz M, Mahmud N, Dadaev T, Govindasami K, Guy M, et al. Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol. 2013;31(14):1748–57. doi:10.1200/JCO.2012.43.1882. PMID:23569316.
   PubMed Web of Science ®Google Scholar
• Bryant HE, Schultz N, Thomas HD, Parker KM, Flower D, Lopez E, Kyle S, Meuth M, Curtin NJ, Helleday T. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature. 2005;434(7035):913–7. doi:10.1038/nature03443. PMID:15829966.
   PubMed Web of Science ®Google Scholar
• Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, Richardson TB, Santarosa M, Dillon KJ, Hickson I, Knights C, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005;434(7035):917–21. doi:10.1038/nature03445. PMID:15829967.
   PubMed Web of Science ®Google Scholar
• Bratt O, Loman N. Clinical Management of Prostate Cancer in Men with BRCA Mutations. Eur Urol. 2015;68(2):194–5. doi:10.1016/j.eururo.2014.11.005. PMID:25465969.
   PubMed Web of Science ®Google Scholar
• Cheng HH, Pritchard CC, Boyd T, Nelson PS, Montgomery B. Biallelic Inactivation of BRCA2 in Platinum-sensitive Metastatic Castration-resistant Prostate Cancer. Eur Urol. 2016;69(6):992–5. doi:10.1016/j.eururo.2015.11.022. PMID:26724258.
   PubMed Web of Science ®Google Scholar
• McAllister KA, Haugen-Strano A, Hagevik S, Brownlee HA, Collins NK, Futreal PA, Bennett LM, Wiseman RW. Characterization of the rat and mouse homologues of the BRCA2 breast cancer susceptibility gene. Cancer Res. 1997;57(15):3121–5. PMID:9242436.
   PubMed Web of Science ®Google Scholar
• Davies OR, Pellegrini L. Interaction with the BRCA2 C terminus protects RAD51-DNA filaments from disassembly by BRC repeats. Nat Struct Mol Biol. 2007;14(6):475–83. doi:10.1038/nsmb1251.
   PubMed Web of Science ®Google Scholar
• Esashi F, Galkin VE, Yu X, Egelman EH, West SC. Stabilization of RAD51 nucleoprotein filaments by the C-terminal region of BRCA2. Nat Struct Mol Biol. 2007;14(6):468–74. doi:10.1038/nsmb1245.
   PubMed Web of Science ®Google Scholar
• Sugano K, Nakamura S, Ando J, Takayama S, Kamata H, Sekiguchi I, Ubukata M, Kodama T, Arai M, Kasumi F, et al. Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. Cancer Sci. 2008;99(10):1967–76. doi:10.1111/j.1349-7006.2008.00944.x. PMID:19016756.
   PubMed Web of Science ®Google Scholar
• Hu N, Li WJ, Su H, Wang C, Goldstein AM, Albert PS, Emmert-Buck MR, Kong LH, Roth MJ, Dawsey SM, et al. Common genetic variants of TP53 and BRCA2 in esophageal cancer patients and healthy individuals from low and high risk areas of northern China. Cancer Detect Prev. 2003;27(2):132–8. doi:10.1016/S0361-090X(03)00031-X. PMID:12670525.
   PubMedGoogle Scholar
• Kaushal M, Chattopadhyay I, Phukan R, Purkayastha J, Mahanta J, Kapur S, Saxena S. Contribution of germ line BRCA2 sequence alterations to risk of familial esophageal cancer in a high-risk area of India. Dis Esophagus. 2010;23(1):71–75. doi:10.1111/j.1442-2050.2009.00975.x. PMID:19473207.
   PubMed Web of Science ®Google Scholar
• Delahaye-Sourdeix M, Anantharaman D, Timofeeva MN, Gaborieau V, Chabrier A, Vallee MP, Lagiou P, Holcatova I, Richiardi L, Kjaerheim K, et al. A rare truncating BRCA2 variant and genetic susceptibility to upper aerodigestive tract cancer. J Natl Cancer Inst. 2015;107(5): djv037. doi:10.1093/jnci/djv037.
   PubMedGoogle Scholar
• Akbari MR, Malekzadeh R, Nasrollahzadeh D, Amanian D, Islami F, Li S, Zandvakili I, Shakeri R, Sotoudeh M, Aghcheli K, et al. Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma. Oncogene. 2008;27(9):1290–6. doi:10.1038/sj.onc.1210739. PMID:17724471.
   PubMed Web of Science ®Google Scholar
• Knudson AG, Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971;68(4):820–3. doi:10.1073/pnas.68.4.820. PMID:5279523.
   PubMed Web of Science ®Google Scholar
• Vral A, Willems P, Claes K, Poppe B, Perletti G, Thierens H. Combined effect of polymorphisms in Rad51 and Xrcc3 on breast cancer risk and chromosomal radiosensitivity. Mol Med Rep. 2011;4(5):901–12. PMID:21725594.
   PubMed Web of Science ®Google Scholar
• Lengauer C, Kinzler KW, Vogelstein B. Genetic instabilities in human cancers. Nature. 1998;396(6712):643–9. doi:10.1038/25292. PMID:9872311.
   PubMed Web of Science ®Google Scholar
• Robinson DR, Wu YM, Lonigro RJ, Vats P, Cobain E, Everett J, Cao X, Rabban E, Kumar-Sinha C, Raymond V, et al. Integrative clinical genomics of metastatic cancer. Nature. 2017;548(7667):297–303. doi:10.1038/nature23306. PMID:28783718.
   PubMed Web of Science ®Google Scholar
• Borrego-Soto G, Ortiz-Lopez R, Rojas-Martinez A. Ionizing radiation-induced DNA injury and damage detection in patients with breast cancer. Genet Mol Biol. 2015;38(4):420–32. doi:10.1590/S1415-475738420150019. PMID:26692152.
   PubMed Web of Science ®Google Scholar
• Redon CE, Nakamura AJ, Zhang YW, Ji JJ, Bonner WM, Kinders RJ, Parchment RE, Doroshow JH, Pommier Y. Histone gammaH2AX and poly(ADP-ribose) as clinical pharmacodynamic biomarkers. Clin Cancer Res. 2010;16(18):4532–42. doi:10.1158/1078-0432.CCR-10-0523. PMID:20823146.
   PubMed Web of Science ®Google Scholar
• Deckbar D, Jeggo PA, Lobrich M. Understanding the limitations of radiation-induced cell cycle checkpoints. Crit Rev Biochem Mol Biol. 2011;46(4):271–83. doi:10.3109/10409238.2011.575764. PMID:21524151.
   PubMed Web of Science ®Google Scholar
• Tong D, Liu Q, Liu G, Xu J, Lan W, Jiang Y, Xiao H, Zhang D, Jiang J. Metformin inhibits castration-induced EMT in prostate cancer by repressing COX2/PGE2/STAT3 axis. Cancer letters. 2016;389:23–32. doi:10.1016/j.canlet.2016.12.031. PMID:28043910.
   PubMed Web of Science ®Google Scholar
• Liu Q, Yuan W, Tong D, Liu G, Lan W, Zhang D, Xiao H, Zhang Y, Huang Z, Yang J, et al. Metformin represses bladder cancer progression by inhibiting stem cell repopulation via COX2/PGE2/STAT3 axis. Oncotarget. 2016;7(19):28235–46. doi:10.18632/oncotarget.8595. PMID:27058422.
   PubMedGoogle Scholar
• Edwards SL, Brough R, Lord CJ, Natrajan R, Vatcheva R, Levine DA, Boyd J, Reis-Filho JS, Ashworth A. Resistance to therapy caused by intragenic deletion in BRCA2. Nature. 2008;451(7182):1111–5. doi:10.1038/nature06548. PMID:18264088.
   PubMed Web of Science ®Google Scholar