U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

MedGen UID:
481975
•Concept ID:
C3280345
•
Finding
Synonyms: Breast-ovarian cancer, familial 4; RAD51D-Related Familial Susceptibility to Breast-Ovarian Cancer
 
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

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
Daly MB, Pilarski R, Yurgelun MB, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Garber JE, Goggins M, Hutton ML, Khan S, Klein C, Kohlmann W, Kurian AW, Laronga C, Litton JK, Mak JS, Menendez CS, Merajver SD, Norquist BS, Offit K, Pal T, Pederson HJ, Reiser G, Shannon KM, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Dwyer MA, Darlow SD
J Natl Compr Canc Netw 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017. PMID: 32259785
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Genetic testing and familial implications in breast-ovarian cancer families.
Oosterwijk JC, de Vries J, Mourits MJ, de Bock GH
Maturitas 2014 Aug;78(4):252-7. Epub 2014 May 9 doi: 10.1016/j.maturitas.2014.05.002. PMID: 24894332

Recent clinical studies

Etiology

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
Daly MB, Pilarski R, Yurgelun MB, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Garber JE, Goggins M, Hutton ML, Khan S, Klein C, Kohlmann W, Kurian AW, Laronga C, Litton JK, Mak JS, Menendez CS, Merajver SD, Norquist BS, Offit K, Pal T, Pederson HJ, Reiser G, Shannon KM, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Dwyer MA, Darlow SD
J Natl Compr Canc Netw 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017. PMID: 32259785
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
Chen B, Zhang G, Li X, Ren C, Wang Y, Li K, Mok H, Cao L, Wen L, Jia M, Li C, Guo L, Wei G, Lin J, Li Y, Zhang Y, Han-Zhang H, Liu J, Lizaso A, Liao N
Aging (Albany NY) 2020 Feb 24;12(4):3140-3155. doi: 10.18632/aging.102783. PMID: 32091409Free PMC Article
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O
J Cancer Res Clin Oncol 2018 Dec;144(12):2495-2513. Epub 2018 Oct 10 doi: 10.1007/s00432-018-2763-9. PMID: 30306255
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article

Diagnosis

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
Daly MB, Pilarski R, Yurgelun MB, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Garber JE, Goggins M, Hutton ML, Khan S, Klein C, Kohlmann W, Kurian AW, Laronga C, Litton JK, Mak JS, Menendez CS, Merajver SD, Norquist BS, Offit K, Pal T, Pederson HJ, Reiser G, Shannon KM, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Dwyer MA, Darlow SD
J Natl Compr Canc Netw 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017. PMID: 32259785
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O
J Cancer Res Clin Oncol 2018 Dec;144(12):2495-2513. Epub 2018 Oct 10 doi: 10.1007/s00432-018-2763-9. PMID: 30306255
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR
Cancer 2015 Jan 1;121(1):25-33. Epub 2014 Sep 3 doi: 10.1002/cncr.29010. PMID: 25186627

Therapy

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
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Association between family cancer history and risk of pancreatic cancer.
Schulte A, Pandeya N, Fawcett J, Fritschi L, Klein K, Risch HA, Webb PM, Whiteman DC, Neale RE
Cancer Epidemiol 2016 Dec;45:145-150. Epub 2016 Oct 31 doi: 10.1016/j.canep.2016.10.005. PMID: 27810486
Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome.
Roukos DH, Briasoulis E
Nat Clin Pract Oncol 2007 Oct;4(10):578-90. doi: 10.1038/ncponc0930. PMID: 17898808
Oral contraception and cancer of the female reproductive system.
Woods KL
J Clin Hosp Pharm 1985 Jun;10(2):123-35. doi: 10.1111/j.1365-2710.1985.tb01127.x. PMID: 3894428

Prognosis

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O
J Cancer Res Clin Oncol 2018 Dec;144(12):2495-2513. Epub 2018 Oct 10 doi: 10.1007/s00432-018-2763-9. PMID: 30306255
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR
Cancer 2015 Jan 1;121(1):25-33. Epub 2014 Sep 3 doi: 10.1002/cncr.29010. PMID: 25186627
Hereditary ovarian carcinoma.
Gallion HH, Smith SA
Semin Surg Oncol 1994 Jul-Aug;10(4):249-54. doi: 10.1002/ssu.2980100404. PMID: 8091066

Clinical prediction guides

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O
J Cancer Res Clin Oncol 2018 Dec;144(12):2495-2513. Epub 2018 Oct 10 doi: 10.1007/s00432-018-2763-9. PMID: 30306255
Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families.
Määttä KM, Nurminen R, Kankuri-Tammilehto M, Kallioniemi A, Laasanen SL, Schleutker J
BMC Cancer 2017 Jul 24;17(1):496. doi: 10.1186/s12885-017-3488-x. PMID: 28738860Free PMC Article
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR
Cancer 2015 Jan 1;121(1):25-33. Epub 2014 Sep 3 doi: 10.1002/cncr.29010. PMID: 25186627
Psychosocial aspects of risk communication and mutation testing in familial breast-ovarian cancer.
Hopwood P
Curr Opin Oncol 2005 Jul;17(4):340-4. doi: 10.1097/01.cco.0000166653.15546.06. PMID: 15933464

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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

    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
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...