{"doi":"10.1002/cncr.21536","title":"<i>BRCA1</i> and <i>BRCA2</i> mutations account for a large proportion of ovarian carcinoma cases","abstract":"<h4>Background</h4>It is believed that BRCA1 and BRCA2 germline mutations account for the majority of hereditary ovarian carcinomas; however, to the authors' knowledge, there are scant data on the prevalence and spectrum of mutations, genotype/phenotype correlations, tumor histology, and family history characteristics. To address this gap, the authors conducted a population-based study of 232 incident epithelial ovarian carcinomas in the Tampa Bay area.<h4>Methods</h4>Genetic testing for the BRCA1 and BRCA2 genes was performed through full sequencing and BRCA1 rearrangement testing.<h4>Results</h4>Of 209 women with invasive ovarian carcinoma, 32 women (15.3%) had mutations in BRCA1 or BRCA2, including 20 BRCA1 mutations and 12 BRCA2 mutations. Of the BRCA2 mutations, 58% were outside the \"ovarian cancer cluster region\" (OCCR). Variants of uncertain significance were detected in 8.2% of women with invasive ovarian carcinoma. No mutations were identified in women with borderline or invasive mucinous tumors. Among the BRCA mutation-positive women, 63% had serous tumors. A family history of breast and/or ovarian carcinoma was reported in 65%, 75%, and 43.5% of relatives of BRCA1 carriers, BRCA2 carriers, and non-BRCA1/BRCA2 carriers, respectively.<h4>Conclusions</h4>The data from this study suggested that 1) previous studies may have underestimated the frequency of BRCA1 and BRCA2 mutations in ovarian carcinomas, especially outside the OCCR; 2) it may be reasonable to offer genetic counseling to any woman with an invasive, nonmucinous epithelial ovarian tumor; and 3) among patients with invasive ovarian carcinoma, family history is not sufficiently accurate to predict mutation status.","journal":"Cancer","year":2005,"id":3665,"datarank":0.9807209735651506,"base_score":6.53813982376767,"endowment":6.53813982376767,"self_citation_contribution":0.9807209735651506,"citation_network_contribution":0.0,"self_endowment_contribution":0.9807209735651506,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":690,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.0511,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2005-11-14","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":37466,"name":"Jenny Permuth‐Wey","orcid":null,"position":1,"is_corresponding":false},{"id":37467,"name":"Judith A. Betts","orcid":null,"position":2,"is_corresponding":false},{"id":5970,"name":"Jeffrey P. Krischer","orcid":"0000-0003-4526-888X","position":3,"is_corresponding":false},{"id":37468,"name":"James Fiorica","orcid":null,"position":4,"is_corresponding":false},{"id":37469,"name":"Hector Arango","orcid":null,"position":5,"is_corresponding":false},{"id":37470,"name":"James LaPolla","orcid":null,"position":6,"is_corresponding":false},{"id":37471,"name":"Mitchell Hoffman","orcid":null,"position":7,"is_corresponding":false},{"id":37472,"name":"Martin A. Martino","orcid":null,"position":8,"is_corresponding":false},{"id":37473,"name":"Katie Wakeley","orcid":null,"position":9,"is_corresponding":false},{"id":37474,"name":"George Wilbanks","orcid":null,"position":10,"is_corresponding":false},{"id":37475,"name":"Santo Nicosia","orcid":null,"position":11,"is_corresponding":false},{"id":37476,"name":"Alan Cantor","orcid":"0000-0002-5136-028X","position":12,"is_corresponding":false},{"id":37477,"name":"Rebecca Sutphen","orcid":null,"position":13,"is_corresponding":false},{"id":37478,"name":"James V. Fiorica","orcid":null,"position":14,"is_corresponding":false},{"id":37479,"name":"James P. LaPolla","orcid":null,"position":15,"is_corresponding":false},{"id":37480,"name":"George D. Wilbanks","orcid":null,"position":16,"is_corresponding":false},{"id":37481,"name":"Santo V. Nicosia","orcid":null,"position":17,"is_corresponding":false},{"id":37465,"name":"Tuya Pal","orcid":"0000-0001-8009-2475","position":0,"is_corresponding":true}],"reference_count":43,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}