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Breast-ovarian cancer, familial, susceptibility to, 4(BROVCA4)

MedGen UID:
481975
•Concept ID:
C3280345
•
Finding
Synonyms: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4; BROVCA4
 
Gene (location): RAD51D (17q12)
 
Monarch Initiative: MONDO:0013669
OMIM®: 614291

Definition

Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene. [from MONDO]

Professional guidelines

PubMed

Consideration for Multigene Panel Testing Outside of Cancer-Specific Genetic Testing.
Smith AL, Okut H, Ablah E, Ward M
Oncol Nurs Forum 2025 Jun 12;52(4):293-301. doi: 10.1188/25.ONF.293-301. PMID: 40577580Free PMC Article
Genetic characterization of BRCA1 and BRCA2 variants in cancer and high-risk family screening cohorts in the UAE population.
Al Ali AAAA, Al Ali MMA, El-Shourbagy DMA, Tirmazy SHH, Mirza I, Raza A, Latif MF, Yasaei H
J Cancer Res Clin Oncol 2025 Apr 21;151(4):146. doi: 10.1007/s00432-025-06188-9. PMID: 40257527Free PMC Article
Second Primary Cancer Risks After Breast Cancer in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Allen I, Hassan H, Walburga Y, Huntley C, Loong L, Rahman T, Allen S, Garrett A, Torr B, Bacon A, Knott C, Jose S, Vernon S, Lüchtenborg M, Pethick J, Santaniello F, Goel S, Wang YW, Lavelle K, McRonald F, Eccles D, Morris E, Hardy S, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC
J Clin Oncol 2025 Feb 20;43(6):651-661. Epub 2024 Oct 29 doi: 10.1200/JCO.24.01146. PMID: 39475295Free PMC Article

UK NICE Guideline NG241, Ovarian cancer: identifying and managing familial and genetic risk, 2024

Recent clinical studies

Etiology

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.
Reeb C, Uría-Regojo G, González-González J, Amil A, Radu R, Benítez Y, Gomis C, Blanco-Kelly F, Mireia A, López-Grondona F, Lorda-Sánchez I, Salgado E, Sánchez-Barbero AI, Swafiri S, Gimbernat H, Ramírez-Martín D, Husillos-Alonso A, Sánchez-Encinas M, González-Enguita C, Trujillo MJ, Ayuso C, Mínguez P, Osorio A
Sci Rep 2026 Jul 2 doi: 10.1038/s41598-026-60564-0. PMID: 42393169
Prevalence and clinical significance of germline pathogenic variants identified by multigene panel testing in high-risk Japanese patients with breast cancer.
Kano M, Taruno K, Inuzuka M, Makino R, Takeuchi M, Suzuki M, Kida K, Takei J, Nagayama A, Hayashida T, Haruyama Y, Ueno T, Watanabe C, Kojima Y, Sasai R, Endo M, Momozawa Y, Nakamura S
Breast Cancer 2026 Jul;33(4):887-895. Epub 2026 May 13 doi: 10.1007/s12282-026-01863-2. PMID: 42126782Free PMC Article
Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.
Paksoy B, Erkal O, Kocaaga A
Clin Transl Oncol 2026 Aug;28(8):3206-3215. Epub 2026 Feb 16 doi: 10.1007/s12094-026-04258-z. PMID: 41697532
Patient Engagement With Clinicians and Family Members About Genetic Test Results Across Risk Groups in Women With Hereditary Cancer Susceptibility.
Katz SJ, Abrahamse P, Furgal A, Hofer TP, Courser RR, Hodan R, Ward KC, Hamilton AS, An LC, Kurian AW
JCO Oncol Pract 2026 Jan 13:OP2500776. doi: 10.1200/OP-25-00776. PMID: 41529223
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.
Bonamici L, Artuso L, Marino M, Toss A, Sidoti D, Barbieri E, Venturelli M, Marchi I, Pescucci C, Manfredini R, Papi L, Dominici M, Cortesi L, Tenedini E, Tagliafico E
Hum Mutat 2026;2026:6601291. Epub 2026 Jan 3 doi: 10.1155/humu/6601291. PMID: 41488399Free PMC Article

Diagnosis

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.
Reeb C, Uría-Regojo G, González-González J, Amil A, Radu R, Benítez Y, Gomis C, Blanco-Kelly F, Mireia A, López-Grondona F, Lorda-Sánchez I, Salgado E, Sánchez-Barbero AI, Swafiri S, Gimbernat H, Ramírez-Martín D, Husillos-Alonso A, Sánchez-Encinas M, González-Enguita C, Trujillo MJ, Ayuso C, Mínguez P, Osorio A
Sci Rep 2026 Jul 2 doi: 10.1038/s41598-026-60564-0. PMID: 42393169
Prevalence and clinical significance of germline pathogenic variants identified by multigene panel testing in high-risk Japanese patients with breast cancer.
Kano M, Taruno K, Inuzuka M, Makino R, Takeuchi M, Suzuki M, Kida K, Takei J, Nagayama A, Hayashida T, Haruyama Y, Ueno T, Watanabe C, Kojima Y, Sasai R, Endo M, Momozawa Y, Nakamura S
Breast Cancer 2026 Jul;33(4):887-895. Epub 2026 May 13 doi: 10.1007/s12282-026-01863-2. PMID: 42126782Free PMC Article
Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.
Paksoy B, Erkal O, Kocaaga A
Clin Transl Oncol 2026 Aug;28(8):3206-3215. Epub 2026 Feb 16 doi: 10.1007/s12094-026-04258-z. PMID: 41697532
Patient Engagement With Clinicians and Family Members About Genetic Test Results Across Risk Groups in Women With Hereditary Cancer Susceptibility.
Katz SJ, Abrahamse P, Furgal A, Hofer TP, Courser RR, Hodan R, Ward KC, Hamilton AS, An LC, Kurian AW
JCO Oncol Pract 2026 Jan 13:OP2500776. doi: 10.1200/OP-25-00776. PMID: 41529223
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.
Bonamici L, Artuso L, Marino M, Toss A, Sidoti D, Barbieri E, Venturelli M, Marchi I, Pescucci C, Manfredini R, Papi L, Dominici M, Cortesi L, Tenedini E, Tagliafico E
Hum Mutat 2026;2026:6601291. Epub 2026 Jan 3 doi: 10.1155/humu/6601291. PMID: 41488399Free PMC Article

Therapy

Can Family Motivation Enhance Men's Uptake of Cascade Screening for Familial BRCA1/2 Mutations?
Ongaro G, Petrocchi S, Calvello M, Bonanni B, Feroce I, Pravettoni G
Am J Mens Health 2025 Jul-Aug;19(4):15579883251343962. Epub 2025 Aug 7 doi: 10.1177/15579883251343962. PMID: 40772289Free PMC Article
Streamlined Genetic Education and Cascade Testing in Men from Hereditary Breast Ovarian Cancer Families: A Randomized Trial.
Grisham C, Peshkin BN, Sorgen L, Isaacs C, Ladd MK, Jacobs A, Binion S, Tynan M, Kuchinsky E, Friedman S, Taylor KL, Graves K, O'Neill S, Kim D, Schwartz MD
Public Health Genomics 2024;27(1):100-109. Epub 2024 Aug 22 doi: 10.1159/000540466. PMID: 39173603Free PMC Article
Uptake and Predictors of Opportunistic Salpingectomy for Ovarian Cancer Risk Reduction in the United States.
Karia PS, Joshu CE, Visvanathan K
Cancer Prev Res (Phila) 2021 Dec;14(12):1101-1110. Epub 2021 Aug 19 doi: 10.1158/1940-6207.CAPR-21-0121. PMID: 34413116Free PMC Article
Alcohol consumption, cigarette smoking, and familial breast cancer risk: findings from the Prospective Family Study Cohort (ProF-SC).
Zeinomar N, Knight JA, Genkinger JM, Phillips KA, Daly MB, Milne RL, Dite GS, Kehm RD, Liao Y, Southey MC, Chung WK, Giles GG, McLachlan SA, Friedlander ML, Weideman PC, Glendon G, Nesci S; kConFab Investigators, Andrulis IL, Buys SS, John EM, MacInnis RJ, Hopper JL, Terry MB
Breast Cancer Res 2019 Nov 28;21(1):128. doi: 10.1186/s13058-019-1213-1. PMID: 31779655Free PMC Article
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet]
Nelson HD, Pappas M, Cantor A, Haney E, Holmes R, Stillman L
Rockville (MD): Agency for Healthcare Research and Quality (US); 2019 Aug; PMID: 31479213Books & Documents

Prognosis

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.
Reeb C, Uría-Regojo G, González-González J, Amil A, Radu R, Benítez Y, Gomis C, Blanco-Kelly F, Mireia A, López-Grondona F, Lorda-Sánchez I, Salgado E, Sánchez-Barbero AI, Swafiri S, Gimbernat H, Ramírez-Martín D, Husillos-Alonso A, Sánchez-Encinas M, González-Enguita C, Trujillo MJ, Ayuso C, Mínguez P, Osorio A
Sci Rep 2026 Jul 2 doi: 10.1038/s41598-026-60564-0. PMID: 42393169
Maternal Communication of BRCA Risk to Adolescent and Young Adult Children: Implications for Supportive Care Intervention.
Statman MR, Sleiman MM Jr, Peshkin BN, Hamilton JG, DeMarco TA, Rana HQ, Garber JE, Sacca R, Ovadia H, Isaacs C, Tercyak KP
Psychooncology 2026 Jan;35(1):e70390. doi: 10.1002/pon.70390. PMID: 41577648Free PMC Article
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.
Bonamici L, Artuso L, Marino M, Toss A, Sidoti D, Barbieri E, Venturelli M, Marchi I, Pescucci C, Manfredini R, Papi L, Dominici M, Cortesi L, Tenedini E, Tagliafico E
Hum Mutat 2026;2026:6601291. Epub 2026 Jan 3 doi: 10.1155/humu/6601291. PMID: 41488399Free PMC Article
Development of a risk score based on clinical-pathological features to predict the presence of germline BRCA1/2 pathogenic variants in ovarian cancer patients.
Innella G, Erini G, De Leo A, Godino L, Caramanna L, Ferrari S, Miccoli S, Perrone AM, Zamagni C, De Iaco P, Turchetti D, Rucci P
ESMO Open 2025 Jul;10(7):105300. Epub 2025 Jun 27 doi: 10.1016/j.esmoop.2025.105300. PMID: 40580611Free PMC Article
Genetic characterization of BRCA1 and BRCA2 variants in cancer and high-risk family screening cohorts in the UAE population.
Al Ali AAAA, Al Ali MMA, El-Shourbagy DMA, Tirmazy SHH, Mirza I, Raza A, Latif MF, Yasaei H
J Cancer Res Clin Oncol 2025 Apr 21;151(4):146. doi: 10.1007/s00432-025-06188-9. PMID: 40257527Free PMC Article

Clinical prediction guides

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.
Reeb C, Uría-Regojo G, González-González J, Amil A, Radu R, Benítez Y, Gomis C, Blanco-Kelly F, Mireia A, López-Grondona F, Lorda-Sánchez I, Salgado E, Sánchez-Barbero AI, Swafiri S, Gimbernat H, Ramírez-Martín D, Husillos-Alonso A, Sánchez-Encinas M, González-Enguita C, Trujillo MJ, Ayuso C, Mínguez P, Osorio A
Sci Rep 2026 Jul 2 doi: 10.1038/s41598-026-60564-0. PMID: 42393169
Maternal Communication of BRCA Risk to Adolescent and Young Adult Children: Implications for Supportive Care Intervention.
Statman MR, Sleiman MM Jr, Peshkin BN, Hamilton JG, DeMarco TA, Rana HQ, Garber JE, Sacca R, Ovadia H, Isaacs C, Tercyak KP
Psychooncology 2026 Jan;35(1):e70390. doi: 10.1002/pon.70390. PMID: 41577648Free PMC Article
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.
Bonamici L, Artuso L, Marino M, Toss A, Sidoti D, Barbieri E, Venturelli M, Marchi I, Pescucci C, Manfredini R, Papi L, Dominici M, Cortesi L, Tenedini E, Tagliafico E
Hum Mutat 2026;2026:6601291. Epub 2026 Jan 3 doi: 10.1155/humu/6601291. PMID: 41488399Free PMC Article
Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.
Flores-Lagunes LL, Alvarez-Gómez RM, Molina-Garay C, Jimenez-Olivares M, Acosta-Mendez PA, García-Solorio J, Prida-Riba S, Carillo-Sanchez K, Mendoza-Caamal EC, De la Fuente-Hernández MA, Fragoso-Ontiveros VZ, Reyes Casarrubias RE, Alaez-Verson C
Fam Cancer 2025 Sep 17;24(4):73. doi: 10.1007/s10689-025-00490-8. PMID: 40960710Free PMC Article
Development of a risk score based on clinical-pathological features to predict the presence of germline BRCA1/2 pathogenic variants in ovarian cancer patients.
Innella G, Erini G, De Leo A, Godino L, Caramanna L, Ferrari S, Miccoli S, Perrone AM, Zamagni C, De Iaco P, Turchetti D, Rucci P
ESMO Open 2025 Jul;10(7):105300. Epub 2025 Jun 27 doi: 10.1016/j.esmoop.2025.105300. PMID: 40580611Free PMC Article

Recent systematic reviews

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet]
Nelson HD, Pappas M, Cantor A, Haney E, Holmes R, Stillman L
Rockville (MD): Agency for Healthcare Research and Quality (US); 2019 Aug; PMID: 31479213Books & Documents

Supplemental Content

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    Clinical resources

    Practice guidelines

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • UK NICE, 2024
      UK NICE Guideline NG241, Ovarian cancer: identifying and managing familial and genetic risk, 2024

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed

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