{"entity":{"id":"paper-donenberg-bahamas-brca1-founder-bcrt-2011","kind":"paper","name":"A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas","aka":[],"tldr":"Nearly a quarter of 214 Bahamian women with breast cancer, chosen without regard to age or family history, carried one of six BRCA1 founder mutations, the highest national prevalence recorded.","summary":"214 Bahamian women with invasive breast cancer, unselected for age or family history, were screened for six BRCA1 mutations previously reported in Bahamian cancer families. A mutation was identified in 49 (23%); frequency was 33% in women diagnosed before 50, 41% with a first-degree relative with breast or ovarian cancer and 58% with bilateral disease. About 23% of unselected breast cancers in the Bahamas are attributable to a BRCA1 founder mutation.","asOf":"2026-09-24","links":[{"label":"Donenberg et al., Breast Cancer Res Treat 2011: BRCA1 founder mutations in 214 Bahamian breast cancer patients","url":"https://doi.org/10.1007/s10549-010-1156-9"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/20838878/"}],"tags":[],"related":[],"cancers":["tnbc","breast-cancer"],"sections":[],"technologies":[],"targets":["brca"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["gbrca-mutation"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["breast-cancer-research-and-treatment"],"dependsOn":[],"notes":[],"journal":"Breast Cancer Research and Treatment","year":2011,"doi":"10.1007/s10549-010-1156-9","pmid":"20838878","authors":"Donenberg T, Lunn J, Curling D, et al.","paperType":"observational","findings":["BRCA1 founder mutation in 49 of 214 unselected patients, 23%.","33% under age 50, 41% with an affected first-degree relative, 58% with bilateral disease."],"whatItMeans":"Founder-mutation screening of every breast cancer patient is justified in the Bahamas, and the finding explains part of the early-onset, BRCA1-driven triple-negative burden across Afro-Caribbean populations.","caveats":["Only the six known founder alleles were tested; full sequencing would find more.","Receptor status was not the focus of the study."],"changedPractice":false,"participants":214},"route":"/key-papers/paper-donenberg-bahamas-brca1-founder-bcrt-2011/","neighbours":{"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"tnbc","kind":"cancer","name":"Triple-negative breast cancer (TNBC)","route":"/cancers/tnbc/"}],"target":[{"id":"brca","kind":"target","name":"BRCA1 / BRCA2 (HRD)","route":"/targets/brca/"}],"term":[{"id":"gbrca-mutation","kind":"term","name":"Germline BRCA mutation (gBRCA)","route":"/terms/gbrca-mutation/"}],"journal":[{"id":"breast-cancer-research-and-treatment","kind":"journal","name":"Breast cancer research and treatment","route":"/journals/breast-cancer-research-and-treatment/"}]}}