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

**Authors:** Bianca Rossouw, Monica Araujo, Amanda Krause, Fiona Baine-Savanhu

PMC · DOI: 10.1007/s10689-026-00530-x · Familial Cancer · 2026-01-31

## TL;DR

This review examines genetic variants linked to hereditary ovarian cancer in women of African ancestry, revealing a lack of research and a need for broader studies.

## Contribution

The study highlights the limited understanding of hereditary ovarian cancer in women of African ancestry and calls for expanded genetic research.

## Key findings

- Only 30 studies were identified, mostly involving African American and North African participants.
- 92% of identified pathogenic variants were in BRCA1 or BRCA2 genes.
- Research on hereditary ovarian cancer in this population remains extremely limited.

## Abstract

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.

The online version contains supplementary material available at 10.1007/s10689-026-00530-x.

## Linked entities

- **Genes:** BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672], BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675], BRIP1 (BRCA1 interacting DNA helicase 1) [NCBI Gene 83990], ATM (ATM serine/threonine kinase) [NCBI Gene 472], RAD51C (RAD51 paralog C) [NCBI Gene 5889], RAD51D (RAD51 paralog D) [NCBI Gene 5892]
- **Diseases:** ovarian cancer (MONDO:0005140), hereditary ovarian cancer (MONDO:0016248), Lynch syndrome (MONDO:0005835)

## Full-text entities

- **Genes:** EP300 (EP300 lysine acetyltransferase) [NCBI Gene 2033] {aka KAT3B, MKHK2, RSTS2, p300}, BRIP1 (BRCA1 interacting DNA helicase 1) [NCBI Gene 83990] {aka BACH1, FANCJ, OF}, NTHL1 (nth like DNA glycosylase 1) [NCBI Gene 4913] {aka FAP3, NTH1, OCTS3, hNTH1}, RAD50 (RAD50 double strand break repair protein) [NCBI Gene 10111] {aka NBSLD, RAD502, hRad50}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, MSH2 (mutS homolog 2) [NCBI Gene 4436] {aka COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1}, MSH6 (mutS homolog 6) [NCBI Gene 2956] {aka GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3}, RAD51C (RAD51 paralog C) [NCBI Gene 5889] {aka BROVCA3, FANCO, R51H3, RAD51L2}, ATM (ATM serine/threonine kinase) [NCBI Gene 472] {aka AT1, ATA, ATC, ATD, ATDC, ATE}, PARP1 (poly(ADP-ribose) polymerase 1) [NCBI Gene 142] {aka ADPRT, ADPRT 1, ADPRT1, ARTD1, PARP, PARP-1}, CHEK2 (checkpoint kinase 2) [NCBI Gene 11200] {aka CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53}, BARD1 (BRCA1 associated RING domain 1) [NCBI Gene 580], PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395] {aka HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMSL2}, MLH1 (mutL homolog 1) [NCBI Gene 4292] {aka COCA2, FCC2, HNPCC, HNPCC2, LYNCH2, MLH-1}, BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}, BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}, RAD51D (RAD51 paralog D) [NCBI Gene 5892] {aka BROVCA4, R51H3, RAD51L3, TRAD}, PALB2 (partner and localizer of BRCA2) [NCBI Gene 79728] {aka BROVCA5, FANCN, PNCA3}, NBN (nibrin) [NCBI Gene 4683] {aka AT-V1, AT-V2, ATV, NBS, NBS1, P95}
- **Diseases:** grade serous carcinoma (MESH:D018297), breast cancer (MESH:D001943), HBOC (MESH:D061325), hereditary cancer syndrome (MESH:D009386), high (MESH:D008228), primary (MESH:D010538), breast and ovarian (MESH:D010051), Cancer (MESH:D009369), Lynch syndrome (MESH:D003123)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c.1310_1313delAAGA, c.943_944ins10, c.5030_5033delCTAA, p.Gly1770Cys, p.Pro1677Glnfs, c.798_799delTT, p.Thr611Serfs, c.1832del5

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12860814/full.md

## References

4 references — full list in the complete paper: https://tomesphere.com/paper/PMC12860814/full.md

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Source: https://tomesphere.com/paper/PMC12860814