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Original Research

Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome

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Pages 6275-6284 | Published online: 08 Jul 2019

References

  • Coburn SB, Bray F, Sherman ME, Trabert B. International patterns and trends in ovarian cancer incidence, overall and by histologic subtype. Int J Cancer. 2017;140(11):2451–2460. doi:10.1002/ijc.3067628257597
  • Torre LA, Trabert B, DeSantis CE, et al. Ovarian cancer statistics, 2018. CA: Cancer J Clin. 2018;68:284–296. doi:10.3322/caac.2145629809280
  • El-Basmy A. Kuwait Cancer Registry. Kuwait Cancer Control Center; 2012.
  • Kaku T, Ogawa S, Kawano Y. Histological classification of ovarian cancer. Med Electron Microsc. 2003;36:9–17. doi:10.1007/s00795030000212658347
  • Tutt A, Ashworth A. The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends Mol Med. 2002;8(12):571–576.12470990
  • Whittemore AS, Gong G, Itnyre J. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U. S. population-based case-control studies of ovarian cancer. Am J Hum Genet. 1997;60:496–504.9042908
  • Ramus SJ, Gayther SA. The contribution of BRCA1 and BRCA2 to ovarian cancer. Mol Oncol. 2009;3:138–150. doi:10.1016/j.molonc.2009.02.00119383375
  • Berchuck A, Heron KA, Carney ME, et al. Frequency of germline and somatic BRCA1 mutations in ovarian cancer. Clin Cancer Res. 1998;4:2433–2437.9796975
  • John EM, Miron A, Gong G, et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. Jama. 2007;298(24):2869–2876. doi:10.1001/jama.298.24.286918159056
  • Biglia N, Sgandurra P, Bounous VE, et al. Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: analysis of prognostic factors and survival published online May 3, 2016]. E Cancer Med Sci. 2016;10:639.
  • Database of Single Nucleotide Polymorphisms (Dbsnp) [Homepage on the Internet]. Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine; 2001 Available from: http://www.ncbi.nlm.nih.gov/SNP/. Accessed September 9, 2018.
  • Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014;42(Database issue):D980–D985. doi:10.1093/nar/gkt111324234437
  • BRCA Exchange [database online]. UC Santa Cruz; 2017 Available from: http://www.brcaexchange.org/. Accessed 99, 2018.
  • Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, Den Dunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat. 2011;32(5):557–563. doi:10.1002/humu.2133121520333
  • Associated Regional and University Pathologists (ARUP). The University of UTAH Available from: http://arup.utah.edu/database/BRCA. Accessed June 17, 2019.
  • 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 Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–423. doi:10.1038/gim.2015.3025741868
  • Safra T, Waissengrin B, Borgato L, et al. Outcome in epithelial ovarian cancer experience in ethnically diverse group. Ajho. 2016;12(9):21–25.
  • 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;30:2654–2663. doi:10.1200/JCO.2011.39.854522711857
  • Risch HA, McLaughlin JR, Cole DE, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001;68(3):700–710. doi:10.1086/31878711179017
  • 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. doi:10.1002/cncr.2140016284991
  • Alhuqail A, Alzahrani A, Almubarak H, et al. High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients. Breast Cancer Res Treat. 2018;168(3):695–702. doi:10.1007/s10549-017-4635-429297111
  • Kurian AW. BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications. Curr Opin Obstet Gynecol. 2009;22:72–78. doi:10.1097/GCO.0b013e328332dca3
  • Helpman L, Perri T, Zidan O, et al. Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates. J Gynecol Oncol. 2017;28(5):e61. doi:10.3802/jgo.2017.28.e6128657222
  • Satagopan JM, Jeff Boyd ND, Kauff MR, Scheuer L, Narod S, Offi KE. Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRC2 mutations. Clin Cancer Res. 2002;8(12):3776–3781.
  • Khoo US, Ngan HY, Cheung AN, et al. Mutational analysis of BRCA1 and BRCA2 genes in chinese ovarian cancer identifies 6 novel germline mutations. Hum Mutat. 2000;16:88–89. doi:10.1002/1098-1004(200007)16:1<88::AID-HUMU16>3.0.CO;2-G
  • Nanda R, Schumm LP, Cummings S, et al. Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. Jama. 2005;294:1925–1933. doi:10.1001/jama.294.15.192516234499
  • Vogel KJ, Atchley DP, Erlichman J, et al. BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model. J Clin Oncol. 2007;25:4635–4641. doi:10.1200/JCO.2006.10.470317925560
  • Menkiszak J, Gronwald J, Go Rski B, et al. Hereditary ovarian cancer in poland. Int J Cancer. 2003;106:942–945. doi:10.1002/ijc.1133812918074
  • Jacobi CE, van Ierland Y, van Asperen CJ, et al.Prediction of BRCA1/2 mutation status in patients with ovarian cancer from a hospital-based cohort. Genet Med. 2007;(9):173–179. doi:10.1097/GIM.0b013e318032e4ab17413421
  • Hodgson SV, Heap E, Cameron J, et al. Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer. J Med Genet. 1999;36:369373.
  • Liu J, Cristea MC, Frankel P, et al. Clinical characteristics and outcomes of BRCA-associated ovarian cancer (OC): genotype and survival. Cancer Genet. 2012;205(1–2):34–41. doi:10.1016/j.cancergen.2012.01.00822429596
  • Malander S, Ridderheim M. Måsba¨ck A., et al. One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. Eur J Cancer. 2004;40:422–428.14746861
  • Fong PC, Boss DS, Yap TA, et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med. 2009;361:123134. doi:10.1056/NEJMoa0900212
  • 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;22:1346–1352. doi:10.1093/annonc/mdq73121228333
  • Rudaitis V, Zvirblis T, Kanopiene D, et al. BRCA1/2 mutation status is an independent factor of improved survival for advanced (stage III-IV) ovarian cancer. Int J Gynecol Cancer. 2014;24:1395–1400. doi:10.1097/IGC.000000000000024725248112
  • Gallagher DJ, Konner JA, Bell-McGuinn KM, et al. Survival in epithelial ovarian cancer: a multivariate analysis incorporating BRCA mutation status and platinum sensitivity. Ann Oncol. 2011;22:1127–1132. doi:10.1093/annonc/mdq73121084428
  • Kotsopoulos J, Rosen B, Fan I, et al. Ten-year survival after epithelial ovarian cancer is not associated with BRCA mutation status. Gynecol Oncol. 2016;140:42–47. doi:10.1016/j.ygyno.2015.11.00926556769
  • Muggia F, Safra T. ‘BRCAness’ and its implications for platinum action in gynecologic cancer. Anticancer Res. 2014;34:551–556.24510983
  • Huang Y-W. Association of BRCA1/2 mutations with ovarian cancer prognosis. Medicine. 2018;97(2):e9380. doi:10.1097/MD.000000000000938029480828
  • Zhong Q, Peng HL, Zhao X, et al. Effects of BRCA1- and BRCA2 related mutations on ovarian and breast cancer survival: a meta-analysis. Clin Cancer Res. 2015;21:211–220. doi:10.1158/1078-0432.CCR-14-181625348513
  • Xu K, Yang S, Zhao Y. Prognostic significance of BRCA mutations in ovarian cancer: an updated systematic review with meta-analysis. Oncotarget. 2017;8:285–302.27690218