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PMID: 41619087 已发表 · epublish 英语

Hereditary ovarian cancer in women with African ancestry: a scoping review.

Familial cancer ·第 25 卷 ·第 1 期 ·2026-01-31

Rossouw B, Araujo M, Krause A, Baine-Savanhu F

摘要

This scoping review explored genetic variants associated with hereditary ovarian cancer in women of African ancestry. Around 20% of ovarian cancers are hereditary, with BRCA1 and BRCA2 variants accounting for 20–55% of these cases, while other implicated genes include BRIP1, ATM, RAD51C, RAD51D, and the Lynch syndrome genes. The genetic basis of ovarian cancer in women of African ancestry, however, remains poorly understood. Accurate diagnosis of hereditary cancer syndromes is crucial given their personal and familial implications, informing patient management, surveillance, and cascade testing for at-risk relatives. Eligible studies included women of African ancestry with confirmed primary ovarian, peritoneal, or fallopian tube cancer who underwent germline genetic testing for hereditary cancer syndromes. Studies based solely on somatic testing or genome-wide association approaches were excluded. A comprehensive search of PubMed, Scopus, Web of Science, Google Scholar, and ProQuest Dissertations and Theses Global was conducted. Two reviewers independently screened citations and extracted data using a standardized form, and results were summarised narratively and in tables according to JBI scoping review guidelines. Thirty studies were included, primarily involving African American and North African participants. Only four focused specifically on hereditary ovarian cancer; the remainder primarily examined breast cancer cohorts with some ovarian cancer cases. Across these studies, 75 pathogenic variants were identified in 110 families, with 92% in BRCA1 or BRCA2. Research on hereditary ovarian cancer in women with African ancestry remains extremely limited, highlighting the urgent need for broader next-generation sequencing studies to inform clinical care.

关键词
African population Germline variants Hereditary cancer syndromes Oncology Ovarian cancer
文献信息
期刊
Familial cancer
期刊简称
Fam Cancer
ISSN
1573-7292
发表日期
2026-01-31
语言
英语
国家/地区
Netherlands
NLM ID
100898211
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