{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T02:53:28Z","timestamp":1793069608934,"version":"4.5.0"},"reference-count":49,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"Suppl 1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Ovarian cancer (OC) is one of the most lethal gynecological cancers with a 5-year survival rate that ranges from 30% to 40%. Breast cancer genes (\n                      <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      ) play a key role in maintaining genomic stability. Mutations in\n                      <jats:italic toggle=\"yes\">BRCA1\/2<\/jats:italic>\n                      genes lead to the accumulation of double-strand breaks, resulting in tumorigenesis. The risk of developing OC in women with\n                      <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      mutations is 39% and 11%, respectively, by 70 years of age.\n                      <jats:italic toggle=\"yes\">BRCA1\/2<\/jats:italic>\n                      mutation testing is thus important to identify women at greatest risk of developing OC in addition to its impact on diagnosis, prognosis, and targeted therapy. Genetic testing is required to identify the\n                      <jats:italic toggle=\"yes\">BRCA<\/jats:italic>\n                      mutations and thus select patients who can benefit from polyadenosine diphosphate (ADP)\u2013ribose polymerase (PARP) inhibitor therapy. Tumor\n                      <jats:italic toggle=\"yes\">BRCA<\/jats:italic>\n                      mutation testing can detect both germline and somatic mutations allowing implementation of preventive strategies on a broader population. Various international guidelines recommend\n                      <jats:italic toggle=\"yes\">BRCA1\/2<\/jats:italic>\n                      mutation genetic testing in all OC patients irrespective of age and family history. This review focuses on the role of BRCA mutation testing in OC.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijc.ijc_1394_20","type":"journal-article","created":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T01:57:16Z","timestamp":1683079036000},"page":"S56-S67","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":15,"title":["BRCA mutations"],"prefix":"10.4103","volume":"59","author":[{"given":"Vineet","family":"Talwar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Rauthan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R3-5-20240828","doi-asserted-by":"crossref","first-page":"37","DOI":"10.4103\/2395-2113.251437","article-title":"Epidemiology of ovarian tumours in Northern India - A tertiary hospital based study","volume":"4","author":"Puri","year":"2018","journal-title":"Indian J Community Fam Med"},{"key":"R4-5-20240828","doi-asserted-by":"crossref","first-page":"57","DOI":"10.3390\/cancers10020057","article-title":"Recommendations and choices for BRCA mutation carriers at risk for ovarian cancer: A complicated decision","volume":"10","author":"Lewis","year":"2018","journal-title":"Cancers (Basel"},{"key":"R5-5-20240828","doi-asserted-by":"crossref","first-page":"viii22","DOI":"10.1093\/annonc\/mdt307","article-title":"BRCA1- and BRCA2-related mutations: Therapeutic implications in ovarian cancer","volume":"24","author":"Pothuri","year":"2013","journal-title":"Ann Oncol"},{"key":"R6-5-20240828","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1038\/ejhg.2016.93","article-title":"The biological effects and clinical implications of BRCA mutations: Where do we go from here?","volume":"24","author":"Stoppa-Lyonnet","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"R7-5-20240828","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1038\/ng1092-128","article-title":"Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome","volume":"2","author":"Smith","year":"1992","journal-title":"Nat Genet"},{"key":"R8-5-20240828","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s13048-019-0511-7","article-title":"Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer","volume":"12","author":"Kim","year":"2019","journal-title":"J Ovarian Res"},{"key":"R9-5-20240828","first-page":"496","article-title":"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","volume":"60","author":"Whittemore","year":"1997","journal-title":"Am J Hum Genet"},{"key":"R10-5-20240828","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1093\/jnci\/djt095","article-title":"EMBRACE. Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE","volume":"105","author":"Mavaddat","year":"2013","journal-title":"J Natl Cancer Inst"},{"key":"R11-5-20240828","doi-asserted-by":"crossref","first-page":"2260","DOI":"10.1001\/jama.283.17.2260","article-title":"Clinicopathologic features of BRCA-linked and sporadic ovarian cancer","volume":"283","author":"Boyd","year":"2000","journal-title":"JAMA"},{"key":"R12-5-20240828","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1186\/s12885-019-5829-4","article-title":"BRCA germline mutation test for all woman with ovarian cancer?","volume":"19","author":"Paradiso","year":"2019","journal-title":"BMC Cancer"},{"key":"R13-5-20240828","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1086\/318787","article-title":"Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer","volume":"68","author":"Risch","year":"2001","journal-title":"Am J Hum Genet"},{"key":"R15-5-20240828","doi-asserted-by":"crossref","first-page":"vi31","DOI":"10.1093\/annonc\/mdr373","article-title":"BRCA in breast cancer: ESMO Clinical Practice Guidelines","volume":"22","author":"Balma\u00f1a","year":"2011","journal-title":"Ann Oncol"},{"key":"R16-5-20240828","doi-asserted-by":"crossref","first-page":"15563","DOI":"10.1007\/s10897-012-9547-1","article-title":"NSGC practice guideline: Risk assessment and genetic counseling for hereditary breast and ovarian cancer","volume":"22","author":"Berliner","year":"2013","journal-title":"J Genet Couns"},{"key":"R17-5-20240828","doi-asserted-by":"crossref","first-page":"6505","DOI":"10.2147\/CMAR.S186563","article-title":"Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast\/ovarian cancer: A report from North India","volume":"10","author":"Mehta","year":"2018","journal-title":"Cancer Manag Res"},{"key":"R18-5-20240828","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1001\/archinte.1995.00430090034005","article-title":"The impact of family history on ovarian cancer risk. The Utah Population Database","volume":"155","author":"Kerber","year":"1995","journal-title":"Arch Intern Med"},{"key":"R19-5-20240828","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.ygyno.2014.09.009","article-title":"Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions","volume":"136","author":"Lancaster","year":"2015","journal-title":"Gynecol Oncol"},{"key":"R20-5-20240828","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1200\/JCO.2013.53.2820","article-title":"Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation","volume":"32","author":"Finch","year":"2014","journal-title":"J Clin Oncol"},{"key":"R21-5-20240828","doi-asserted-by":"crossref","first-page":"4248","DOI":"10.1056\/NEJM199808133390702","article-title":"Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group","volume":"339","author":"Narod","year":"1998","journal-title":"N Engl J Med"},{"key":"R22-5-20240828","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1200\/JCO.2007.11.6905","article-title":"Effect of BRCA1\/2 mutations on long-term survival of patients with invasive ovarian cancer: The national Israeli study of ovarian cancer","volume":"26","author":"Chetrit","year":"2008","journal-title":"J Clin Oncol"},{"key":"R23-5-20240828","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1001\/jama.2011.1456","article-title":"Association of BRCA1 and BRCA2 mutations with survival, chemo- therapy sensitivity, and gene mutator phenotype in patients with ovarian cancer","volume":"306","author":"Yang","year":"2011","journal-title":"JAMA"},{"key":"R24-5-20240828","doi-asserted-by":"crossref","first-page":"e9380","DOI":"10.1097\/MD.0000000000009380","article-title":"Association of BRCA1\/2 mutations with ovarian cancer prognosis: An updated meta-analysis","volume":"97","author":"Huang","year":"2018","journal-title":"Medicine (Baltimore"},{"key":"R25-5-20240828","doi-asserted-by":"crossref","first-page":"5530","DOI":"10.1200\/JCO.2008.16.1703","article-title":"'BRCAness' syndrome in ovarian cancer: A case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations","volume":"26","author":"Tan","year":"2008","journal-title":"J Clin Oncol"},{"key":"R26-5-20240828","doi-asserted-by":"crossref","first-page":"2654","DOI":"10.1200\/JCO.2011.39.8545","article-title":"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","volume":"30","author":"Alsop","year":"2012","journal-title":"J Clin Oncol"},{"key":"R27-5-20240828","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1158\/1078-0432.CCR-13-2287","article-title":"Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas","volume":"20","author":"Pennington","year":"2014","journal-title":"Clin Cancer Res"},{"key":"R28-5-20240828","doi-asserted-by":"crossref","first-page":"7303","DOI":"10.1073\/pnas.94.14.7303","article-title":"Requirement of poly(ADP-ribose) polymerase in recovery from DNA damage in mice and in cells","volume":"94","author":"de Murcia","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"R29-5-20240828","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1200\/JCO.2009.26.9589","article-title":"Poly(ADP)-ribose polymerase inhibition: Frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval","volume":"28","author":"Fong","year":"2010","journal-title":"J Clin Oncol"},{"key":"R30-5-20240828","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1056\/NEJMoa1105535","article-title":"Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer","volume":"366","author":"Ledermann","year":"2012","journal-title":"N Engl J Med"},{"key":"R31-5-20240828","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/S1470-2045(14)70228-1","article-title":"Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: A preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial","volume":"15","author":"Ledermann","year":"2014","journal-title":"Lancet Oncol"},{"key":"R32-5-20240828","doi-asserted-by":"crossref","first-page":"2495","DOI":"10.1056\/NEJMoa1810858","article-title":"Maintenance olaparib in patients with newly diagnosed advanced ovarian cancer","volume":"379","author":"Moore","year":"2018","journal-title":"N Engl J Med"},{"key":"R33-5-20240828","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1016\/S1470-2045(17)30469-2","article-title":"Olaparib tablets as maintenance therapy in patients with platinum-sensitive, relapsed ovarian cancer and a BRCA1\/2 mutation (SOLO2\/ENGOT-Ov21): A double-blind, randomised, placebo-controlled, phase 3 trial","volume":"18","author":"Pujade-Lauraine","year":"2017","journal-title":"Lancet Oncol"},{"key":"R34-5-20240828","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1056\/NEJMoa1911361","article-title":"Olaparib plus Bevacizumab as First-Line Maintenance in Ovarian Cancer","volume":"381","author":"Ray-Coquard","year":"2019","journal-title":"N Engl J Med"},{"key":"R35-5-20240828","doi-asserted-by":"crossref","first-page":"5540","DOI":"10.1200\/JCO.2016.34.15_suppl.5540","article-title":"Refinement of prespecified cutoff for genomic loss of heterozygosity (LOH) in ARIEL2 part 1: A phase II study of rucaparib in patients (pts) with high grade ovarian carcinoma (HGOC)","volume":"34","author":"Coleman","year":"2016","journal-title":"J Clin Oncol"},{"key":"R36-5-20240828","doi-asserted-by":"crossref","first-page":"1949","DOI":"10.1016\/S0140-6736(17)32440-6","article-title":"ARIEL3 investigators. Rucaparib maintenance treatment for recurrent ovarian carcinoma after response to platinum therapy (ARIEL3): A randomised, double-blind, placebo-controlled, phase 3 trial","volume":"390","author":"Coleman","year":"2017","journal-title":"Lancet"},{"key":"R37-5-20240828","doi-asserted-by":"crossref","first-page":"2154","DOI":"10.1056\/NEJMoa1611310","article-title":"ENGOT-OV16\/NOVA Investigators. Niraparib maintenance therapy in platinum-sensitive, recurrent ovarian cancer","volume":"375","author":"Mirza","year":"2016","journal-title":"N Engl J Med"},{"key":"R38-5-20240828","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1056\/NEJMoa1910962","article-title":"Niraparib in patients with newly diagnosed advanced ovarian cancer","volume":"381","author":"Gonz\u00e1lez-Mart\u00edn","year":"2019","journal-title":"N Engl J Med"},{"key":"R39-5-20240828","doi-asserted-by":"crossref","first-page":"2403","DOI":"10.1056\/NEJMoa1909707","article-title":"Veliparib with first-line chemotherapy and as maintenance therapy in ovarian cancer","volume":"381","author":"Coleman","year":"2019","journal-title":"N Engl J Med"},{"key":"R40-5-20240828","doi-asserted-by":"crossref","first-page":"3570","DOI":"10.1200\/JCO.2009.27.2997","article-title":"Somatic mutations in BRCA1 and BRCA2 could expand the number of patients that benefit from poly (ADP ribose) polymerase inhibitors in ovarian cancer","volume":"28","author":"Hennessy","year":"2010","journal-title":"J Clin Oncol"},{"key":"R41-5-20240828","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1038\/s41416-018-0274-8","article-title":"Candidate biomarkers of PARP inhibitor sensitivity in ovarian cancer beyond the BRCA genes","volume":"119","author":"Hodgson","year":"2018","journal-title":"Br J Cancer"},{"key":"R42-5-20240828","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1200\/JCO.2013.50.6055","article-title":"Underestimation of risk of a BRCA1 or BRCA2 mutation in women with high-grade serous ovarian cancer by BRCAPRO: A multi-institution study","volume":"32","author":"Daniels","year":"2014","journal-title":"J Clin Oncol"},{"key":"R43-5-20240828","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1038\/sj.bjc.6602175","article-title":"The BOADICEA model of genetic susceptibility to breast and ovarian cancer","volume":"91","author":"Antoniou","year":"2004","journal-title":"Br J Cancer"},{"key":"R44-5-20240828","doi-asserted-by":"crossref","first-page":"19463","DOI":"10.18632\/oncotarget.24728","article-title":"Main implications related to the switch to BRCA1\/2 tumor testing in ovarian cancer patients: A proposal of a consensus","volume":"9","author":"Capoluongo","year":"2018","journal-title":"Oncotarget"},{"key":"R47-5-20240828","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/j.ygyno.2012.12.015","article-title":"Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing","volume":"128","author":"Norquist","year":"2013","journal-title":"Gynecol Oncol"},{"key":"R48-5-20240828","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.ygyno.2013.05.003","article-title":"Keeping it simple: Genetics referrals for all invasive serous ovarian cancers","volume":"130","author":"Demsky","year":"2013","journal-title":"Gynecol Oncol"},{"key":"R49-5-20240828","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1053\/j.seminoncol.2017.08.004","article-title":"Guidance statement on BRCA1\/2 Tumor testing in ovarian cancer patients","volume":"44","author":"Capoluongo","year":"2017","journal-title":"Semin Oncol"},{"key":"R50-5-20240828","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1002\/humu.23137","article-title":"Novel BRCA1 and BRCA2 tumor test as basis for treatment decisions and referral for genetic counseling of patients with ovarian carcinomas","volume":"38","author":"Weren","year":"2017","journal-title":"Hum Mutat"},{"key":"R51-5-20240828","doi-asserted-by":"crossref","first-page":"e17050","DOI":"10.1200\/JCO.2019.37.15_suppl.e17050","article-title":"FLABRA, frontline approach for BRCA testing in ovarian cancer (OC) treatment na\u00efve population: A Latin America (LA) epidemiologic study","volume":"37","author":"Goncalves","year":"2019","journal-title":"Journal of Clinical Oncology"},{"key":"R52-5-20240828","doi-asserted-by":"crossref","first-page":"12734","DOI":"10.1016\/j.ejca.2016.10.006","article-title":"Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients","volume":"69","author":"Vergote","year":"2016","journal-title":"Eur J Cancer"},{"key":"R53-5-20240828","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1200\/JCO.2017.76.2781","article-title":"Evaluation of a streamlined oncologist-led BRCA mutation testing and counseling model for patients with ovarian cancer","volume":"36","author":"Colombo","year":"2018","journal-title":"J Clin Oncol"},{"key":"R54-5-20240828","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1200\/JCO.19.02960","article-title":"Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline","volume":"38","author":"Konstantinopoulos","year":"2020","journal-title":"J Clin Oncol"}],"container-title":["Indian Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ijc.IJC_1394_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:06:30Z","timestamp":1787771190000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ijc.IJC_1394_20"}},"subtitle":["Implications of genetic testing in ovarian cancer"],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":49,"journal-issue":{"issue":"Suppl 1","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/ijc.ijc_1394_20","relation":{},"ISSN":["0019-509X"],"issn-type":[{"value":"0019-509X","type":"print"}],"subject":[],"published":{"date-parts":[[2022,3]]}}}