{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T05:25:36Z","timestamp":1774934736042,"version":"3.50.1"},"reference-count":150,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Canadian Institute for Health Research","award":["PJT-156124"],"award-info":[{"award-number":["PJT-156124"]}]},{"DOI":"10.13039\/100018948","name":"Saudi Arabian Cultural Bureau","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100018948","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Department of Medicine, McGill University"},{"name":"the Fond de la recherche du Qu\u00e9bec en sant\u00e9"},{"name":"Quebec Breast Cancer Foundation network"},{"name":"Compute Canada resource allocation project wst-164 and Genome Canada Genome Technology Platform"},{"name":"CIHR foundation","award":["PJT-517664"],"award-info":[{"award-number":["PJT-517664"]}]},{"DOI":"10.13039\/501100000156","name":"FRQS","doi-asserted-by":"crossref","award":["20697"],"award-info":[{"award-number":["20697"]}],"id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000024","name":"CIHR","doi-asserted-by":"crossref","award":["MOP-115071"],"award-info":[{"award-number":["MOP-115071"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000024","name":"CIHR","doi-asserted-by":"crossref","award":["PJT-152989"],"award-info":[{"award-number":["PJT-152989"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000024","name":"CIHR","doi-asserted-by":"crossref","award":["PJT-190076"],"award-info":[{"award-number":["PJT-190076"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000041","name":"American Diabetes Association","doi-asserted-by":"crossref","award":["1-15-ACE-26"],"award-info":[{"award-number":["1-15-ACE-26"]}],"id":[{"id":"10.13039\/100000041","id-type":"DOI","asserted-by":"crossref"}]},{"name":"FRSQ, McGill University and Universit\u00e9 de Sherbrooke"},{"name":"Banque de tissus et de donn\u00e9es of the R\u00e9seau de recherche sur le cancer of the FRQS affiliated with the Canadian Tumour Repository Network"},{"name":"Taibah University Scholarship"},{"name":"RI-MUHC Scholarship Award"},{"name":"James O and Maria Meadows Award"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Five rare variants in BRIP1\/FANCJ, initially identified in ovarian cancer (OC) or breast cancer (BC) cases by the adult hereditary cancer clinics, were investigated for their candidacy as clinically relevant variants. These variants were investigated genetically in a population exhibiting genetic drift and molecularly assayed for biological impact. Using in silico tools, population-based genetic databases and other resources, three of the five reported BRIP1 variants were likely to be damaging: c.797C&gt;T; p.Thr266Met, c.2087C&gt;T; p.Pro696Leu and c.2990_2993delCAAA; p.Thr997ArgfsTer61. The carrier frequencies ranged from 0 to 0.7% in ancestry-defined cancer groups comprising 47 OC families, 49 hereditary breast and ovarian cancer syndrome families, 142 hereditary breast cancer syndrome families, 435 sporadic OC cases and 563 sporadic BC cases and 0\u20130.2% in 1025 population-matched controls. Multiple carriers of the these variants were identified in additional population-matched cancer cases. Of the five reported BRIP1 variants, p.Thr266Met, p.Pro696Leu and c.2990_2993delCAAA; p.Thr997ArgfsTer61, which were predicted to be damaging, conferred cellular sensitivity to mitomycin C and cisplatin unlike p.Ser139Ala and p.Ala406Ser. Collectively, our investigation implicates BRIP1 c.797C&gt;T; p.Thr266Met, c.2087C&gt;T; p.Pro696Leu and c.2990_2993delCAAA; p.Thr997ArgfsTer61 as deleterious variants in OC and BC.<\/jats:p>","DOI":"10.3390\/ijms27021037","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T17:20:42Z","timestamp":1768929642000},"page":"1037","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1\/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers"],"prefix":"10.3390","volume":"27","author":[{"given":"Wejdan M.","family":"Alenezi","sequence":"first","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada"},{"name":"Cancer Research Program, Centre for Translational Biology, The Research Institute of McGill University Health Centre, Montreal, QC H4A 3J1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larissa","family":"Milano","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Medical Biochemistry and Pathology, Laval University Cancer Research Center, Quebec City, QC G1V 0A6, Canada"},{"name":"Genome Stability Laboratory, Oncology Division, CHU de Qu\u00e9bec (H\u00f4pital de l\u2019Enfant-J\u00e9sus) Research Center, Quebec City, QC G1J 1Z4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caitlin T.","family":"Fierheller","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada"},{"name":"Cancer Research Program, Centre for Translational Biology, The Research Institute of McGill University Health Centre, Montreal, QC H4A 3J1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Serruya","sequence":"additional","affiliation":[{"name":"Cancer Research 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