{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T19:36:18Z","timestamp":1772220978700,"version":"3.50.1"},"reference-count":65,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2025,6,18]],"date-time":"2025-06-18T00:00:00Z","timestamp":1750204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009100","name":"Universiti Brunei Darussalam","doi-asserted-by":"publisher","award":["[UBD\/PNC2\/2\/RG\/1(186)]"],"award-info":[{"award-number":["[UBD\/PNC2\/2\/RG\/1(186)]"]}],"id":[{"id":"10.13039\/100009100","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:p>\n                    This is the first genetic study of its kind in Brunei Darussalam.\n                    <jats:italic>BRCA1<\/jats:italic>\n                    and\n                    <jats:italic>BRCA2<\/jats:italic>\n                    genes are the most well-known and well described predictors of hereditary breast cancer due to their clinical importance. This study aimed to identify the prevalence and mutation spectrum of the\n                    <jats:italic>BRCA1<\/jats:italic>\n                    and\n                    <jats:italic>BRCA2<\/jats:italic>\n                    germline mutations among 120 unselected series of Brunei breast cancer patients. We screened the entire coding region of\n                    <jats:italic>BRCA1<\/jats:italic>\n                    and\n                    <jats:italic>BRCA2<\/jats:italic>\n                    gene using Sanger sequencing and next-generation sequencing methods and identified three pathogenic and one likely pathogenic mutations in the\n                    <jats:italic>BRCA2<\/jats:italic>\n                    gene. Of the 120 patients, 6 (5%) were\n                    <jats:italic>BRCA2<\/jats:italic>\n                    carriers which confirm that\n                    <jats:italic>BRCA2<\/jats:italic>\n                    carriers are more common in the Asian population compared to the Caucasian population. One\n                    <jats:italic>BRCA2<\/jats:italic>\n                    mutation observed only in the Chinese ethnicity of the Brunei breast cancer population suggest a probability of the mutation being a founder effect in the Southern Chinese population. Brunei\n                    <jats:italic>BRCA2<\/jats:italic>\n                    carriers were more likely to have a positive family history of breast and\/or ovarian cancers and have more than one family members in the first-degree relatives diagnosed with breast cancer.\n                  <\/jats:p>","DOI":"10.1371\/journal.pone.0312635","type":"journal-article","created":{"date-parts":[[2025,6,18]],"date-time":"2025-06-18T13:45:50Z","timestamp":1750254350000},"page":"e0312635","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam"],"prefix":"10.1371","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3036-9947","authenticated-orcid":true,"given":"Siti Nur Idayu","family":"Matusin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuramalina","family":"Mumin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hazirah","family":"Zainal Abidin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatin Nurizzati","family":"Mohd Jaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zen Huat","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2570-9740","authenticated-orcid":true,"given":"Mas Rina Wati","family":"Haji Abdul Hamid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2025,6,18]]},"reference":[{"issue":"8","key":"pone.0312635.ref001","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1002\/ijc.31937","article-title":"Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods","volume":"144","author":"J Ferlay","year":"2019","journal-title":"Int J Cancer"},{"issue":"2","key":"pone.0312635.ref002","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.gendis.2018.05.001","article-title":"Breast cancer development and progression: Risk factors, cancer stem cells, signaling pathways, genomics, and molecular pathogenesis","volume":"5","author":"Y Feng","year":"2018","journal-title":"Genes Dis"},{"key":"pone.0312635.ref003","first-page":"1","article-title":"Candidate ovarian and breast susceptibility gene for the cancer","volume":"1","author":"Y 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