{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["O'Mahony DG"],"funding":["NCATS NIH HHS","Cancer Research UK","Dutch Research Council (NWO)","NCI NIH HHS","NIGMS NIH HHS"],"pagination":["2283-2294"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10241792"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["128(12)"],"pubmed_abstract":["<h4>Background</h4>The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.<h4>Methods</h4>Data for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pat"],"journal":["British journal of cancer"],"pubmed_title":["Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2."],"pmcid":["PMC10241792"],"funding_grant_id":["20861","P30 CA008748","UL1 TR000124","R01 CA260132","22905","UL1 TR001881","U19 CA148537","P20 GM130423","R01 CA214545","R01 CA140323","184.021.007","R01 CA128978","RC4 CA153828","23382","R25 CA112486","15601","UM1 CA164920","U10 CA180868","U19 CA148065","U10 CA180822","U10 CA180888","U19 CA148112"],"pubmed_authors":["Fostira F","Consortium of Investigators of Modifiers of BRCA1/2","Southey MC","Dork T","Toland AE","Nathanson KL","Andrulis IL","O'Mahony DG","Tischkowitz M","Vellone VG","Sieh W","Antoniou AC","Teixeira MR","Offit K","Lesueur F","Pharoah PDP","Goldgar DE","Hulick PJ","McGuffog L","HEBON Investigators","Easton DF","Singer CF","Simard J","Danesi R","Chenevix-Trench G","GEMO Study Collaborators","Domchek SM","Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium","Sharma P","Hake CR","Speith LM","Parsons MT","Mai PL","Nielsen FC","Hahnen E","Rantala J","Hadjisavvas A","Soucy P","Nevanlinna H","da Costa AABA","Schmutzler RK","Michailidou K","Neuhausen SL","Nikitina-Zake L","Claes KBM","Varesco L","Bowtell D","Arason A","Pedersen IS","Karlan BY","Meagher NS","Vega A","Vocka M","AOCS Group","Lazaro C","Pejovic T","De Fazio A","Dos Santos ES","Chung WK","Radice P","Yannoukakos D","CZECANCA Consortium","Caligo MA","Janavicius R","Engel C","Ramus SJ","Daly MB","Godwin AK","Bane A","John EM","Mourits MJE","Peterlongo P","Osorio A","Spurdle AB","Dhawan M","Garcia MJ","Brenton JD","Weitzel JN","Konstantopoulou I","Zampiga V","Borg A","Montagna M","Gismondi V","Wappenschmidt B","Imyanitov EN","Whittemore AS","Hamann U","Jakubowska A","Papi L","James PA","Leslie G","Soukupova J","de la Hoya M","van Overeem Hansen T","Tan YY"],"additional_accession":[]},"is_claimable":false,"name":"Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.","description":"<h4>Background</h4>The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.<h4>Methods</h4>Data for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pat","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jun","modification":"2026-05-05T02:54:16.556Z","creation":"2025-04-04T14:40:00.625Z"},"accession":"S-EPMC10241792","cross_references":{"pubmed":["37076566"],"doi":["10.1038/s41416-023-02263-5"]}}