Inherited DNA-repair gene mutations in men with metastatic prostate cancer

New England Journal of Medicine

Volumn 375, Issue 5, 2016, Pages 443-453

  Pritchard, C C ^a   Mateo, J ^c   Walsh, M F ^d   De Sarkar, N ^b   Abida, W ^d   Beltran, H ^e   Garofalo, A ⁱ   Gulati, R ^b   Carreira, S ^c   Eeles, R ^c   Elemento, O ^e   Rubin, M A ^e   Robinson, D ^g   Lonigro, R ^g   Hussain, M ^g   Chinnaiyan, A ^g,h   Vinson, J ^f   Filipenko, J ^f   Garraway, L ⁱ   Taplin, M E ⁱ   AlDubayan, S ⁱ   Han, G C ⁱ   Beightol, M ⁱ   Morrissey, C ^a   Nghiem, B ^a   Cheng, H H ^a   Montgomery, B ^a   Walsh, T ^a   Casadei, S ^a,h   Berger, M ^d   Zhang, L ^d   Zehir, A ^d   Vijai, J ^d   Scher, H I ^d   Sawyers, C ^d   Schultz, N ^d   Kantoff, P W ^d   Solit, D ^d   Robson, M ^d   Van Allen, E M ⁱ   Offit, K ^d   De Bono, J ^c   Nelson, P S ^a,b   more..

^a UNIVERSITY OF WASHINGTON   (United States)

^b Fred Hutchinson Cancer Research Center   (United States)

^c INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^e WEILL CORNELL MEDICAL COLLEGE   (United States)

^f Prostate Cancer Clinical Trials Consortium   (United States)

^g UNIVERSITY OF MICHIGAN   (United States)

^h HOWARD HUGHES MEDICAL INSTITUTE   (United States)

ⁱ DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CANCER DIAGNOSIS; CANCER INCIDENCE; CANCER LOCALIZATION; CARCINOGENESIS; CHEK2 GENE; CONTROLLED STUDY; DISEASE DURATION; DNA ISOLATION; DNA REPAIR; DNA SEQUENCE; EXOME; FAMILY HISTORY; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC PREDISPOSITION; GERMLINE MUTATION; HIGH RISK PATIENT; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; METASTATIC PROSTATE CANCER; NEXT GENERATION SEQUENCING; PALB2 GENE; PREVALENCE; PRIORITY JOURNAL; PROSTATE CANCER; RAD51D GENE; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; VERY ELDERLY; AGE; CLINICAL TRIAL; DNA MUTATIONAL ANALYSIS; GENETICS; INCIDENCE; METASTASIS; MIDDLE AGED; MULTICENTER STUDY; PROSTATE TUMOR;

AGE FACTORS; AGED; AGED, 80 AND OVER; DNA MUTATIONAL ANALYSIS; DNA REPAIR; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; INCIDENCE; MALE; MIDDLE AGED; NEOPLASM METASTASIS; PROSTATIC NEOPLASMS;

EID: 84982797286     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1603144     Document Type: Article

References (40)

1. Albertsen PC, Hanley JA, Fine J. 20-Year outcomes following conservative management of clinically localized prostate cancer. JAMA 2005; 293: 2095-101.
2. Siegel RL, Miller KD, Jemal A. Cancer statistics, 2016. CA Cancer J Clin 2016; 66: 7-30.
3. Mucci LA, Hjelmborg JB, Harris JR, et al. Familial risk and heritability of cancer among twins in Nordic countries. JAMA 2016;315: 68-76.
4. Amin Al Olama A, Kote-Jarai Z, Schumacher FR, et al. A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. Hum Mol Genet 2013; 22: 408-15.
5. Szulkin R, Karlsson R, Whitington T, et al. Genome-wide association study of prostate cancer-specific survival. Cancer Epidemiol Biomarkers Prev 2015; 24: 1796-800.
6. Helfand BT, Roehl KA, Cooper PR, et al. Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases. Hum Genet 2015;134:439-50.
7. Berndt SI, Wang Z, Yeager M, et al. Two susceptibility loci identified for prostate cancer aggressiveness. Nat Commun 2015;6:6889.
8. Haraldsdottir S, Hampel H, Wei L, et al. Prostate cancer incidence in males with Lynch syndrome. Genet Med 2014; 16: 553-7.
9. Kote-Jarai Z, Leongamornlert D, Saunders 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: 1230-4.
10. Leongamornlert D, Mahmud N, Tym-rakiewicz M, et al. Germline BRCA1 mutations increase prostate cancer risk. Br J Cancer 2012;106:1697-701.
11. Xu J, Lange EM, Lu L, et al. HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICP-CG). Hum Genet 2013; 132: 5-14.
12. Gallagher DJ, Gaudet MM, Pal P, et al. Germline BRCA mutations denote a clini-copathologic subset of prostate cancer. Clin Cancer Res 2010; 16: 2115-21.
13. Castro E, Goh C, Olmos D, 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;31:1748-57.
14. Leongamornlert D, Saunders E, Dadaev T, et al. Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. Br J Cancer 2014; 110: 1663-72.
15. Loeb S, Bjurlin MA, Nicholson J, et al. Overdiagnosis and overtreatment of prostate cancer. Eur Urol 2014; 65: 1046-55.
16. Mateo J, Carreira S, Sandhu S, et al. DNA-repair defects and olaparib in meta-static prostate cancer. N Engl J Med 2015; 373:1697-708.
17. Cheng HH, Pritchard CC, Boyd T, Nelson PS, Montgomery B. Biallelic inactiva-tion of BRCA2 in platinum-sensitive meta-static castration-resistant prostate cancer. Eur Urol 2016;69:992-5.
18. Robinson D, Van Allen EM, Wu YM, et al. Integrative clinical genomics of advanced prostate cancer. Cell 2015; 161: 1215-28.
19. Pritchard CC, Morrissey C, Kumar A, et al. Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer. Nat Com-mu n 2014;5:4988.
20. Pritchard CC, Smith C, Salipante SJ, et al. ColoSeq provides comprehensive Lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012; 14: 357-66.
21. Pritchard CC, Salipante SJ, Koehler K, et al. Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens. J Mol Diagn 2014;16:56-67.
22. Beltran H, Eng K, Mosquera JM, et al. Whole-exome sequencing of metastatic cancer and biomarkers of treatment response. JAMA Oncol 2015; 1: 466-74.
23. Schrader KA, Cheng DT, Joseph V, et al. Germline variants in targeted tumor sequencing using matched normal DNA. JAMA Oncol 2016;2:104-11.
24. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genom-ics and the Association for Molecular Pathology. Genet Med 2015; 17: 405-24.
25. Cancer Genome Atlas Research Network. The molecular taxonomy of primary prostate cancer. Cell 2015; 163: 1011-25.
26. Shirts BH, Casadei S, Jacobson AL, et al. Improving performance of multigene panels for genomic analysis of cancer predisposition. Genet Med 2016 February 4 (Epub ahead of print).
27. Walsh T, Lee MK, Casadei S, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA 2010; 107: 12629-33.
28. Zhang J, Walsh MF, Wu G, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med 2015;373:2336-46.
29. Tapia T, Smalley SV, Kohen P, et al. Promoter hypermethylation of BRCA1 correlates with absence of expression in hereditary breast cancer tumors. Epigenetics 2008; 3: 157-63.
30. Meeks HD, Song H, Michailidou K, et al. BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers. J Natl Cancer Inst 2016;108:108.
31. Wilt TJ, Brawer MK, Jones KM, et al. Radical prostatectomy versus observation for localized prostate cancer. N Engl J Med 2012;367:203-13.
32. Schröder FH, Hugosson J, Roobol MJ, et al. Screening and prostate-cancer mortality in a randomized European study. N Engl J Med 2009; 360: 1320-8.
33. Schröder FH, Hugosson J, Carlsson S, et al. Screening for prostate cancer decreases the risk of developing metastatic disease: findings from the European Randomized Study of Screening for Prostate Cancer (ERSPC). Eur Urol 2012; 62: 745-52.
34. Mohler JL, Armstrong AJ, Bahnson RR, et al. Prostate cancer, version 1.2016. J Natl Compr Canc Netw 2016; 14: 19-30.
35. Jeggo PA, Pearl LH, Carr AM. DNA repair, genome stability and cancer: a historical perspective. Nat Rev Cancer 2016; 16:35-42.
36. Isakoff SJ, Mayer EL, He L, et al. TB-CRC009: a multicenter phase II clinical trial of platinum monotherapy with biomarker assessment in metastatic triple-negative breast cancer. J Clin Oncol 2015; 33:1902-9.
37. Alsop K, Fereday S, Meldrum C, et al. BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. J Clin Oncol 2012; 30: 2654-63.
38. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003;302:643-6.
39. Weitzel JN, Lagos VI, Cullinane CA, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA 2007; 297: 2587-95.
40. National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast and ovarian, version 2.2016. (https://www.nccn.org/professionals/phy-sician-gls/ pdf/ genetics-screening .pdf ).