Unwrapping the implications of BRCA1 and BRCA2 mutations in ovarian cancer

JAMA

Volumn 307, Issue 4, 2012, Pages 408-410

  Hyman, David M ^a   Spriggs, David R ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN RECEPTOR; NICOTINAMIDE ADENINE DINUCLEOTIDE ADENOSINE DIPHOSPHATE RIBOSYLTRANSFERASE INHIBITOR; PROGESTERONE RECEPTOR;

BREAST CANCER; CANCER GRADING; CANCER RISK; CANCER STAGING; CANCER SUSCEPTIBILITY; CARCINOGENESIS; EDITORIAL; GENE MUTATION; GENE SILENCING; GENETIC REGULATION; GENETIC STABILITY; HETEROZYGOTE; HISTOLOGY; HUMAN; OVARY CANCER; OVERALL SURVIVAL; PRIORITY JOURNAL; PROGNOSIS; PROGRESSION FREE SURVIVAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE;

EID: 84856190047     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2012.24     Document Type: Editorial

References (24)

1. Boyd J, Sonoda Y, Federici MG, et al. Clinicopathologic features of BRCA-inked and sporadic ovarian cancer. JAMA. 2000;283(17):2260-2265. (Pubitemid 30246777)
2. Chetrit A, Hirsh-Yechezkel G, Ben-David Y, Lubin F, Friedman E, Sadetzki S. Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: the national Israeli study of ovarian cancer. J Clin Oncol. 2008; 26(1):20-25.
3. The Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma. Nature. 2011;474(7353):609-615.
4. Meijers-Heijboer EJ, Verhoog LC, Brekelmans CT, et al. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet. 2000;355(9220):2015-2020. (Pubitemid 30339238)
5. Kauff ND. Is It time to stratify for BRCA mutation status in therapeutic trials in ovarian cancer? J Clin Oncol. 2008;26(1):9-10.
6. Ford D, Easton DF, Stratton M, et al The Breast Cancer Linkage Consortium. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998;62(3):676-689. (Pubitemid 28164626)
7. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25(11):1329-1333. (Pubitemid 46706879)
8. Jazaeri AA, Awtrey CS, Chandramouli GV, et al. Gene expression profiles associated with response to chemotherapy in epithelial ovarian cancers. Clin Cancer Res. 2005;11(17):6300-6310. (Pubitemid 41262961)
9. Kauff ND, Domchek SM, Friebel TM, et al. Risk-reducing salpingooophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol. 2008;26 (8):1331-1337.
10. Yang D, Khan S, Sun Y, et al. Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer. JAMA. 2011;306(14):1557-1565.
11. Hyman DM, Zhou Q, Iasonos A, et al. Improved survival for BRCA2-associated serous ovarian cancer compared with both BRCA-negative and BRCA1-associated serous ovarian cancer [published online December 2, 2011]. Cancer. doi:10.1002/cncr.26655.
12. Bolton KL, Chenevix-Trench G, Goh C, et al. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 2012;307(4):382-390.
13. Pharoah PD, Easton DF, Stockton DL, Gayther S, Ponder BA; United Kingdom Coordinating Committee for Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group. Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer. Cancer Res. 1999;59(4):868-871. (Pubitemid 29086741)
14. Winter WE III, Maxwell GL, Tian C, et al Gynecologic Oncology Group Study. Prognostic factors for stage III epithelial ovarian cancer: a Gynecologic Oncology Group Study. J Clin Oncol. 2007;25(24):3621-3627. (Pubitemid 47372600)
15. Pal T, Permuth-Wey J, Betts JA, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 2005;104(12):2807- 2816. (Pubitemid 41798292)
16. Vencken PM, Kriege M, Hoogwerf D, et al. Chemosensitivity and outcome of BRCA1- and BRCA2-associated ovarian cancer patients after first-line chemotherapy compared with sporadic ovarian cancer patients. Ann Oncol. 2011; 22(6):1346-1352.
17. Daly MB, Axilbund JE, Buys S, et al National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw. 2010;8(5):562-594.
18. Konstantinopoulos PA, Spentzos D, Karlan BY, et al. Gene expression profile of BRCAness that correlates with responsiveness to chemotherapy and with outcome in patients with epithelial ovarian cancer. J Clin Oncol. 2010;28(22): 3555-3561.
19. Farmer H, McCabe N, Lord CJ, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005;434(7035):917-921. (Pubitemid 40559006)
20. Audeh MW, Carmichael J, Penson RT, et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet. 2010;376(9737):245- 251.
21. Fong PC, Yap TA, Boss DS, et al. Poly(ADP)-ribose polymerase inhibition: frequent durable responses in BRCA carrier ovarian cancer correlating with platinumfree interval. J Clin Oncol. 2010;28(15):2512-2519.
22. Sandhu SK, Wenham RM, Wilding G, et al. First-in-human trial of a poly (ADP-ribose) polymerase (PARP) inhibitor MK-4827 in advanced cancer patients (pts) with antitumor activity in BRCA-deficient and sporadic ovarian cancers. J Clin Oncol. 2011;29(15)(suppl):3102 http://meeting.ascopubs.org/cgi/content/ abstract/29/15-suppl/3102?sid=c76df924-5529-438e-b9fb-3cd4ec97c9a4. Accessed January 3, 2012.
23. Husain A, He G, Venkatraman ES, Spriggs DR. BRCA1 up-regulation is associated with repair-mediated resistance to cis-diamminedichloroplatinum(II). Cancer Res. 1998;58(6):1120-1123. (Pubitemid 28183195)
24. Mulligan AM, Couch FJ, Barrowdale D, et al. Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2011;13(6):R110.