{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T02:00:01Z","timestamp":1769306401543,"version":"3.49.0"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,11]],"date-time":"2026-01-11T00:00:00Z","timestamp":1768089600000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100007833","name":"Hamad Medical Corporation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007833","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,1]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n \n Hereditary breast and ovarian cancer syndrome (HBOC) is the most common cause of hereditary breast and ovarian cancers in Qatar and worldwide, which is caused by pathogenic variants in the\n BRCA1<\/jats:italic>\n and\n BRCA2<\/jats:italic>\n genes. The aim of this retrospective study is to describe a common recurrent pathogenic variant in the\n BRCA1<\/jats:italic>\n gene that was observed in the native Qatari population with unique genotype\u2013phenotype correlations.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Medical records of Qatari patients (affected and unaffected) with personal and\/or family history of breast and ovarian cancers who carry pathogenic\/likely pathogenic variants in the\n BRCA1<\/jats:italic>\n gene were reviewed between 2013 and 2020. Epidemiological information and clinical data were reviewed, including age, gender, ethnic background, personal history of cancer, tumour characteristics, and family history. We used frequencies and proportions to describe the data and used Kaplan\u2013Meier curves and log\u2010rank analysis to compare survival rates. For the analysis, we used Stata Corp. 2015. Stata Statistical Software: Release 14, College Station, TX: Stata Corp. LP.\n <\/jats:p>\n <\/jats:sec>\n \n Ethical Compliance<\/jats:title>\n Ethical committee approval was obtained from Hamad Medical Corporation IRB committee (MRC\u201001\u201020\u20101086).<\/jats:p>\n <\/jats:sec>\n \n Result<\/jats:title>\n \n Sixty\u2010three Qatari affected patients and unaffected individuals who carry the BRCA1 variant were included in the study. Our result confirms the presence of a common recurrent pathogenic variant c.4787C>A p.(Ser1596Ter) among Qatari patients who belong to 8 consanguineous large families, followed by c.4065_4068del p.Asn1355fs, both in\n BRCA1<\/jats:italic>\n . The\n BRCA1<\/jats:italic>\n c.4787C>A variant is highly associated with early onset breast cancer, specifically invasive ductal carcinoma (IDC) triple negative breast cancer (stage I, grade III), rather than ovarian cancer. Additionally, the c.4787C>A variant was found to exhibit high penetrance in families with early\u2010onset breast cancer.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n We showed that BRCA1 c.4787C>A pathogenic variant is a highly recurrent variant among Qatari consanguineous families and contributes to the early onset breast cancer in Qatar. Early identification of this variant can aid in improving patients' survival and guide early personalized treatment and prevention.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.70144","type":"journal-article","created":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T07:37:24Z","timestamp":1768203444000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identifying a Recurrent\n BRCA1<\/scp>\n Variant in the Qatari Population With Unique Genotype\u2014Phenotype Correlations"],"prefix":"10.1002","volume":"14","author":[{"given":"Salha","family":"Bujassoum Al\u2010Bader","sequence":"first","affiliation":[{"name":"National Center for Cancer Care and Research Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2294-1472","authenticated-orcid":false,"given":"Hajer","family":"Al\u2010Mulla","sequence":"additional","affiliation":[{"name":"National Center for Cancer Care and Research Hamad Medical Corporation Doha Qatar"},{"name":"Department of Medical Genetics Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0754-1454","authenticated-orcid":false,"given":"Hind","family":"Al\u2010Habish","sequence":"additional","affiliation":[{"name":"National Center for Cancer Care and Research Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sitti","family":"Kusasi","sequence":"additional","affiliation":[{"name":"National Center for Cancer Care and Research Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nema","family":"Abduo","sequence":"additional","affiliation":[{"name":"National Center for Cancer Care and Research Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nawal","family":"Bakheet","sequence":"additional","affiliation":[{"name":"National Center for Cancer Care and Research Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hafedh","family":"Ghazouani","sequence":"additional","affiliation":[{"name":"National Center for Cancer Care and Research Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariem","family":"Sidenna","sequence":"additional","affiliation":[{"name":"National Center for Cancer Care and Research Hamad Medical Corporation Doha Qatar"},{"name":"Department of Medical Genetics Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Abbaszadeh","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reem","family":"Alsulaiman","sequence":"additional","affiliation":[{"name":"National Center for Cancer Care and Research Hamad Medical Corporation Doha Qatar"},{"name":"Department of Medical Genetics Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,11]]},"reference":[{"key":"e_1_2_12_2_1","article-title":"Prevalence of BRCA1 and BRCA2 Mutations Among Highrisk Saudi Patients With Breast Cancer","volume":"4","author":"Abulkhair O.","year":"2018","journal-title":"Journal of Global Oncology"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.534"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.474"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.4172\/1948-5956.1000442"},{"key":"e_1_2_12_6_1","unstructured":"Bujassoum S. M. H. A.Bugrein R. J.AlSulaiman andH.Ghazouani.2013.\u201cQatar's Experience With Hereditary Breast and Ovarian Cancer and High Risk Clinic: A Retrospective Study.\u201d"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gimo.2023.100824"},{"key":"e_1_2_12_8_1","doi-asserted-by":"crossref","unstructured":"Ikolo F. S.Maity R.Finn et\u00a0al.2023.\u201cFounder Effect: Breeding a Dog for the Elderly Gentleman Reveals an Animal Model of a Human Genetic Disorder.\u201d","DOI":"10.5772\/intechopen.113912"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2020.40.2.114"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1634\/theoncologist.2015-0416"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1200\/GO-24-00352"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2014.11.004"}],"container-title":["Molecular Genetics & Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70144","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.70144","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70144","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T07:46:43Z","timestamp":1769240803000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70144"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/mgg3.70144"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70144","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2024-08-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70144"}}