{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T13:24:37Z","timestamp":1792243477920,"version":"4.4.0"},"reference-count":56,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,7,28]],"date-time":"2024-07-28T00:00:00Z","timestamp":1722124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014653","name":"Manchester Biomedical Research Centre","doi-asserted-by":"publisher","award":["08\/H1006\/77"],"award-info":[{"award-number":["08\/H1006\/77"]}],"id":[{"id":"10.13039\/100014653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014653","name":"Manchester Biomedical Research Centre","doi-asserted-by":"publisher","award":["IS-BRC-1215\\u201320007"],"award-info":[{"award-number":["IS-BRC-1215\\u201320007"]}],"id":[{"id":"10.13039\/100014653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014653","name":"Manchester Biomedical Research Centre","doi-asserted-by":"publisher","award":["NIHR203308"],"award-info":[{"award-number":["NIHR203308"]}],"id":[{"id":"10.13039\/100014653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004325","name":"AstraZeneca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004325","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","award":["CL-2022-06-002"],"award-info":[{"award-number":["CL-2022-06-002"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","award":["NIHR300650"],"award-info":[{"award-number":["NIHR300650"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1016\/j.gim.2024.101230","type":"journal-article","created":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T07:03:12Z","timestamp":1722409392000},"page":"101230","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene"],"prefix":"10.1016","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0612-0954","authenticated-orcid":false,"given":"Robert D.","family":"Morgan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9360-8194","authenticated-orcid":false,"given":"George J.","family":"Burghel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8900-0645","authenticated-orcid":false,"given":"Nicola","family":"Flaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1916-6575","authenticated-orcid":false,"given":"Helene","family":"Schlecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4200-0186","authenticated-orcid":false,"given":"Andrew R.","family":"Clamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jurjees","family":"Hasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zena","family":"Salih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Moon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Hogg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosemary","family":"Lord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Forde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0612-8377","authenticated-orcid":false,"given":"Fiona","family":"Lalloo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6297-2855","authenticated-orcid":false,"given":"Emma R.","family":"Woodward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0284-8630","authenticated-orcid":false,"given":"Emma J.","family":"Crosbie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4621-9326","authenticated-orcid":false,"given":"Stephen S.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8515-8944","authenticated-orcid":false,"given":"Gordon C.","family":"Jayson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8482-5784","authenticated-orcid":false,"given":"D. Gareth R.","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.gim.2024.101230_bib1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.3322\/caac.21660","article-title":"Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","volume":"71","author":"Sung","year":"2021","journal-title":"CA Cancer J Clin"},{"issue":"22","key":"10.1016\/j.gim.2024.101230_bib2","doi-asserted-by":"crossref","first-page":"2154","DOI":"10.1056\/NEJMoa1611310","article-title":"Niraparib maintenance therapy in platinum-sensitive, recurrent ovarian cancer","volume":"375","author":"Mirza","year":"2016","journal-title":"N\u00a0Engl J Med"},{"issue":"9","key":"10.1016\/j.gim.2024.101230_bib3","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"},{"issue":"10106","key":"10.1016\/j.gim.2024.101230_bib4","doi-asserted-by":"crossref","first-page":"1949","DOI":"10.1016\/S0140-6736(17)32440-6","article-title":"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"},{"issue":"26","key":"10.1016\/j.gim.2024.101230_bib5","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\u00a0Engl J Med"},{"issue":"25","key":"10.1016\/j.gim.2024.101230_bib6","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\u00a0Engl J Med"},{"issue":"25","key":"10.1016\/j.gim.2024.101230_bib7","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\u00a0Engl J Med"},{"issue":"25","key":"10.1016\/j.gim.2024.101230_bib8","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\u00a0Engl J Med"},{"issue":"22","key":"10.1016\/j.gim.2024.101230_bib9","doi-asserted-by":"crossref","first-page":"2436","DOI":"10.1200\/JCO.21.01511","article-title":"Fuzuloparib maintenance therapy in patients with platinum-sensitive, recurrent ovarian carcinoma (FZOCUS-2): a multicenter, randomized, double-blind, placebo-controlled, Phase III trial","volume":"40","author":"Li","year":"2022","journal-title":"J\u00a0Clin Oncol"},{"issue":"34","key":"10.1016\/j.gim.2024.101230_bib10","doi-asserted-by":"crossref","first-page":"3952","DOI":"10.1200\/JCO.22.01003","article-title":"A\u00a0randomized, Phase III trial to evaluate Rucaparib monotherapy as maintenance treatment in patients with newly diagnosed ovarian cancer (ATHENA-MONO\/GOG-3020\/ENGOT-ov45)","volume":"40","author":"Monk","year":"2022","journal-title":"J\u00a0Clin Oncol"},{"issue":"6","key":"10.1016\/j.gim.2024.101230_bib11","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1038\/s41591-024-03003-9","article-title":"Senaparib as first-line maintenance therapy in advanced ovarian cancer: a randomized phase 3 trial","volume":"30","author":"Wu","year":"2024","journal-title":"Nat Med"},{"issue":"11","key":"10.1016\/j.gim.2024.101230_bib12","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\u00a0Clin Oncol"},{"issue":"3","key":"10.1016\/j.gim.2024.101230_bib13","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/j.annonc.2021.11.013","article-title":"European experts consensus: BRCA\/homologous recombination deficiency testing in first-line ovarian cancer","volume":"33","author":"Vergote","year":"2022","journal-title":"Ann Oncol"},{"issue":"15","key":"10.1016\/j.gim.2024.101230_bib14","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1200\/JCO.18.01854","article-title":"Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients","volume":"37","author":"Kurian","year":"2019","journal-title":"J\u00a0Clin Oncol"},{"issue":"10","key":"10.1016\/j.gim.2024.101230_bib15","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/j.annonc.2023.07.011","article-title":"Newly diagnosed and relapsed epithelial ovarian cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up","volume":"34","author":"Gonz\u00e1lez-Mart\u00edn","year":"2023","journal-title":"Ann Oncol"},{"issue":"11","key":"10.1016\/j.gim.2024.101230_bib16","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"},{"issue":"1","key":"10.1016\/j.gim.2024.101230_bib17","doi-asserted-by":"crossref","first-page":"2487","DOI":"10.1038\/s41467-021-22582-6","article-title":"Molecular and clinical determinants of response and resistance to Rucaparib for recurrent ovarian cancer treatment in ARIEL2 (Parts 1 and 2)","volume":"12","author":"Swisher","year":"2021","journal-title":"Nat Commun"},{"issue":"11","key":"10.1016\/j.gim.2024.101230_bib18","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1158\/2767-9764.CRC-22-0240","article-title":"Ad hoc Analysis of the Phase III ENGOT-OV16\/NOVA Study: Niraparib Efficacy in germline BRCA Wild-type Recurrent Ovarian Cancer with Homologous Recombination Repair Defects","volume":"2","author":"Mirza","year":"2022","journal-title":"Cancer Res Commun"},{"issue":"3","key":"10.1016\/j.gim.2024.101230_bib19","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/j.ygyno.2022.08.021","article-title":"Clinical and molecular characteristics of ARIEL3 patients who derived exceptional benefit from Rucaparib maintenance treatment for high-grade ovarian carcinoma","volume":"167","author":"O\u2019Malley","year":"2022","journal-title":"Gynecol Oncol"},{"key":"10.1016\/j.gim.2024.101230_bib20","article-title":"Homologous recombination repair gene mutations to predict olaparib plus bevacizumab efficacy in the first-line ovarian cancer PAOLA-1\/ENGOT-ov25 trial","volume":"7","author":"Pujade-Lauraine","year":"2023","journal-title":"JCO Precis Oncol"},{"issue":"1","key":"10.1016\/j.gim.2024.101230_bib21","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1186\/s12916-024-03409-9","article-title":"Exploratory biomarker analysis in the phase III L-MOCA study of olaparib maintenance therapy in patients with platinum-sensitive relapsed ovarian cancer","volume":"22","author":"Li","year":"2024","journal-title":"BMC Med"},{"issue":"21","key":"10.1016\/j.gim.2024.101230_bib22","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\u00a0Clin Oncol"},{"issue":"21","key":"10.1016\/j.gim.2024.101230_bib23","doi-asserted-by":"crossref","first-page":"2599","DOI":"10.1200\/JCO.24.00662","article-title":"Selection of germline genetic testing panels in patients with cancer: ASCO Guideline","volume":"42","author":"Tung","year":"2024","journal-title":"J\u00a0Clin Oncol"},{"issue":"6","key":"10.1016\/j.gim.2024.101230_bib24","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1136\/jmedgenet-2017-105188","article-title":"Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group","volume":"55","author":"Taylor","year":"2018","journal-title":"J\u00a0Med Genet"},{"issue":"1","key":"10.1016\/j.gim.2024.101230_bib25","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/cge.14068","article-title":"Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: a case-control study","volume":"101","author":"Flaum","year":"2022","journal-title":"Clin Genet"},{"issue":"12","key":"10.1016\/j.gim.2024.101230_bib26","doi-asserted-by":"crossref","first-page":"2578","DOI":"10.1016\/j.gim.2022.08.022","article-title":"High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer","volume":"24","author":"Flaum","year":"2022","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.gim.2024.101230_bib27","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1136\/jmg-2022-109055","article-title":"MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1","volume":"60","author":"Flaum","year":"2023","journal-title":"J\u00a0Med Genet"},{"issue":"6","key":"10.1016\/j.gim.2024.101230_bib28","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/S0016-5085(99)70510-X","article-title":"New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC","volume":"116","author":"Vasen","year":"1999","journal-title":"Gastroenterology"},{"issue":"5","key":"10.1016\/j.gim.2024.101230_bib29","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1136\/jmedgenet-2018-105792","article-title":"Prevalence of germline pathogenic BRCA1\/2 variants in sequential epithelial ovarian cancer cases","volume":"56","author":"Morgan","year":"2019","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.gim.2024.101230_bib30","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/978-1-0716-2293-3_6","article-title":"DECoN: a detection and visualization tool for exonic copy number variants","volume":"2493","author":"Fowler","year":"2022","journal-title":"Methods Mol Biol"},{"issue":"5","key":"10.1016\/j.gim.2024.101230_bib31","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"2","key":"10.1016\/j.gim.2024.101230_bib32","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet Med"},{"issue":"10","key":"10.1016\/j.gim.2024.101230_bib33","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1136\/jmedgenet-2017-104584","article-title":"Pathology update to the Manchester Scoring System based on testing in over 4000 families","volume":"54","author":"Evans","year":"2017","journal-title":"J\u00a0Med Genet"},{"issue":"5","key":"10.1016\/j.gim.2024.101230_bib34","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1056\/NEJMoa1913948","article-title":"Breast cancer risk genes-association analysis in more than 113,000 women","volume":"384","author":"Cancer Association Consortium","year":"2021","journal-title":"N\u00a0Engl J Med"},{"issue":"7","key":"10.1016\/j.gim.2024.101230_bib35","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1016\/j.gim.2022.03.009","article-title":"Breast cancer risk stratification in women of screening age: incremental effects of adding mammographic density, polygenic risk, and a gene panel","volume":"24","author":"Evans","year":"2022","journal-title":"Genet Med"},{"issue":"10","key":"10.1016\/j.gim.2024.101230_bib36","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1136\/jmedgenet-2020-107270","article-title":"Assessment of mismatch repair deficiency in ovarian cancer","volume":"58","author":"Crosbie","year":"2021","journal-title":"J\u00a0Med Genet"},{"issue":"11","key":"10.1016\/j.gim.2024.101230_bib37","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1093\/jnci\/djt095","article-title":"Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE","volume":"105","author":"Mavaddat","year":"2013","journal-title":"J\u00a0Natl Cancer Inst"},{"issue":"23","key":"10.1016\/j.gim.2024.101230_bib38","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1001\/jama.2017.7112","article-title":"Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers","volume":"317","author":"Kuchenbaecker","year":"2017","journal-title":"JAMA"},{"issue":"11","key":"10.1016\/j.gim.2024.101230_bib39","doi-asserted-by":"crossref","DOI":"10.1093\/jnci\/djv214","article-title":"Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer","volume":"107","author":"Ramus","year":"2015","journal-title":"J\u00a0Natl Cancer Inst"},{"issue":"1","key":"10.1016\/j.gim.2024.101230_bib40","first-page":"61","article-title":"Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing","volume":"14","author":"Cummings","year":"2021","journal-title":"J\u00a0Ovarian Res"},{"issue":"5","key":"10.1016\/j.gim.2024.101230_bib41","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmg-2022-108898","article-title":"UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2","volume":"60","author":"Hanson","year":"2023","journal-title":"J\u00a0Med Genet"},{"issue":"1","key":"10.1016\/j.gim.2024.101230_bib42","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.annonc.2022.10.004","article-title":"Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline","volume":"34","author":"Sessa","year":"2023","journal-title":"Ann Oncol"},{"issue":"11","key":"10.1016\/j.gim.2024.101230_bib43","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1038\/ng.955","article-title":"Mutations in BRIP1 confer high risk of ovarian cancer","volume":"43","author":"Rafnar","year":"2011","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.gim.2024.101230_bib44","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1001\/jamaoncol.2015.5495","article-title":"Inherited mutations in women with ovarian carcinoma","volume":"2","author":"Norquist","year":"2016","journal-title":"JAMA Oncol"},{"issue":"2","key":"10.1016\/j.gim.2024.101230_bib45","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.ygyno.2017.08.030","article-title":"Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls","volume":"147","author":"Lilyquist","year":"2017","journal-title":"Gynecol Oncol"},{"issue":"1","key":"10.1016\/j.gim.2024.101230_bib46","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13058-018-0935-9","article-title":"BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer","volume":"20","author":"Weber-Lassalle","year":"2018","journal-title":"Breast Cancer Res"},{"issue":"19","key":"10.1016\/j.gim.2024.101230_bib47","doi-asserted-by":"crossref","first-page":"3780","DOI":"10.1182\/blood-2009-11-256016","article-title":"Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes","volume":"116","author":"Wu","year":"2010","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.gim.2024.101230_bib48","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1158\/0008-5472.CAN-19-1991","article-title":"Rare BRIP1 missense alleles confer risk for ovarian and breast cancer","volume":"80","author":"Moyer","year":"2020","journal-title":"Cancer Res"},{"issue":"6","key":"10.1016\/j.gim.2024.101230_bib49","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1158\/1541-7786.MCR-20-0828","article-title":"Comprehensive mutational analysis of the BRCA1-associated DNA helicase and tumor-suppressor FANCJ\/BACH1\/BRIP1","volume":"19","author":"Calvo","year":"2021","journal-title":"Mol Cancer Res"},{"key":"10.1016\/j.gim.2024.101230_bib50","series-title":"WHO Classification of Tumours Editorial Board","first-page":"1","article-title":"Female genital tumours","year":"2020"},{"issue":"8","key":"10.1016\/j.gim.2024.101230_bib51","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1136\/ijgc-2022-004211","article-title":"Homologous recombination deficiency in newly diagnosed FIGO stage III\/IV high-grade epithelial ovarian cancer: a multi-national observational study","volume":"33","author":"Morgan","year":"2023","journal-title":"Int J Gynecol Cancer"},{"issue":"2","key":"10.1016\/j.gim.2024.101230_bib52","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.cell.2018.03.039","article-title":"Pathogenic germline variants in 10,389 adult cancers","volume":"173","author":"Huang","year":"2018","journal-title":"Cell"},{"issue":"1","key":"10.1016\/j.gim.2024.101230_bib53","doi-asserted-by":"crossref","first-page":"1640","DOI":"10.1038\/s41467-020-15461-z","article-title":"Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes","volume":"11","author":"Subramanian","year":"2020","journal-title":"Nat Commun"},{"issue":"1","key":"10.1016\/j.gim.2024.101230_bib54","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/s41416-022-01773-y","article-title":"BRCA1\/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?","volume":"127","author":"Morgan","year":"2022","journal-title":"Br J Cancer"},{"issue":"3","key":"10.1016\/j.gim.2024.101230_bib55","doi-asserted-by":"crossref","first-page":"730","DOI":"10.3390\/cancers15030730","article-title":"Is reflex germline BRCA1\/2 testing necessary in women diagnosed with non-mucinous high-grade epithelial ovarian cancer aged 80 years or older?","volume":"15","author":"Morgan","year":"2023","journal-title":"Cancers (Basel)"},{"key":"10.1016\/j.gim.2024.101230_bib56","article-title":"Prevalence of homologous recombination-related gene mutations across multiple cancer types","volume":"2018","author":"Heeke","year":"2018","journal-title":"JCO Precis Oncol"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360024001643?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360024001643?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T13:06:17Z","timestamp":1727960777000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360024001643"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10]]},"references-count":56,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["S1098360024001643"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2024.101230","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2024,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2024.101230","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"101230"}}