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Breast-ovarian cancer, familial, susceptibility to, 3(BROVCA3)

MedGen UID:
462009
•Concept ID:
C3150659
•
Finding
Synonyms: Breast-ovarian cancer, familial 3; RAD51C-Related Breast/Ovarian Cancer; RAD51C-Related Familial Susceptibility to Breast-Ovarian Cancer
 
Gene (location): RAD51C (17q22)
 
Monarch Initiative: MONDO:0013253
OMIM®: 613399

Definition

Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene. [from MONDO]

Clinical features

From HPO
Ovarian carcinoma
MedGen UID:
1648335
•Concept ID:
C4721610
•
Neoplastic Process
A malignant neoplasm originating from the surface ovarian epithelium.
See: Feature record | Search on this feature
Breast carcinoma
MedGen UID:
146260
•Concept ID:
C0678222
•
Neoplastic Process
The presence of a carcinoma of the breast.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Investigating men's motivations to engage in genetic screening for BRCA1 and BRCA2 mutations.
Annoni AM, Longhini C
PLoS One 2022;17(3):e0265387. Epub 2022 Mar 18 doi: 10.1371/journal.pone.0265387. PMID: 35303741Free PMC Article
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Woodward ER, van Veen EM, Forde C, Harkness EF, Byers HJ, Ellingford JM, Burghel GJ, Schlech H, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Gareth Evans D
Genet Med 2021 Oct;23(10):1969-1976. Epub 2021 Jun 10 doi: 10.1038/s41436-021-01234-6. PMID: 34113003Free PMC Article
Hereditary breast-ovarian cancer: clinical findings and medical management.
Marshall M, Solomon S
Plast Surg Nurs 2007 Jul-Sep;27(3):124-7. doi: 10.1097/01.PSN.0000290280.48197.e7. PMID: 17901820

Recent clinical studies

Etiology

Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe.
Marmolejo DH, Wong MYZ, Bajalica-Lagercrantz S, Tischkowitz M, Balmaña J; extended ERN-GENTURIS Thematic Group 3
Eur J Med Genet 2021 Dec;64(12):104350. Epub 2021 Oct 1 doi: 10.1016/j.ejmg.2021.104350. PMID: 34606975
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Felicio PS, Grasel RS, Campacci N, de Paula AE, Galvão HCR, Torrezan GT, Sabato CS, Fernandes GC, Souza CP, Michelli RD, Andrade CE, Barros BDF, Matsushita MM, Revil T, Ragoussis J, Couch FJ, Hart SN, Reis RM, Melendez ME, Tonin PN, Carraro DM, Palmero EI
Hum Mutat 2021 Mar;42(3):290-299. Epub 2020 Dec 28 doi: 10.1002/humu.24158. PMID: 33326660Free PMC Article
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
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL
Am J Hum Genet 2016 May 5;98(5):801-817. doi: 10.1016/j.ajhg.2016.02.024. PMID: 27153395Free PMC Article

Diagnosis

Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe.
Marmolejo DH, Wong MYZ, Bajalica-Lagercrantz S, Tischkowitz M, Balmaña J; extended ERN-GENTURIS Thematic Group 3
Eur J Med Genet 2021 Dec;64(12):104350. Epub 2021 Oct 1 doi: 10.1016/j.ejmg.2021.104350. PMID: 34606975
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
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 breast cancer: part I. Diagnosing hereditary breast cancer syndromes.
Lynch HT, Silva E, Snyder C, Lynch JF
Breast J 2008 Jan-Feb;14(1):3-13. Epub 2007 Dec 11 doi: 10.1111/j.1524-4741.2007.00515.x. PMID: 18086272
Hereditary breast-ovarian cancer: clinical findings and medical management.
Marshall M, Solomon S
Plast Surg Nurs 2007 Jul-Sep;27(3):124-7. doi: 10.1097/01.PSN.0000290280.48197.e7. PMID: 17901820

Therapy

Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term secondary lifestyle behavioural outcomes.
Burnell M, Gaba F, Sobocan M, Desai R, Sanderson S, Loggenberg K, Gessler S, Side L, Brady AF, Dorkins H, Wallis Y, Jacobs C, Legood R, Beller U, Tomlinson I, Wardle J, Menon U, Jacobs I, Manchanda R
BJOG 2022 Nov;129(12):1970-1980. Epub 2022 Jul 13 doi: 10.1111/1471-0528.17253. PMID: 35781768Free PMC Article
Identification of women at risk of hereditary breast-ovarian cancer among participants in a population-based breast cancer screening.
Bonelli L, Valle I, Rebora I, Ricci P, Biocchi L, Bruschi G, Parodi S, Bruzzone C, Varesco L
Fam Cancer 2022 Jul;21(3):309-318. Epub 2021 Oct 20 doi: 10.1007/s10689-021-00281-x. PMID: 34669096
BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.
Jamard E, Volard B, Dugué AE, Legros A, Leconte A, Clarisse B, Davy G, Polycarpe F, Dugast C, Abadie C, Frebourg T, Tinat J, Tennevet I, Layet V, Joly F, Castéra L, Berthet P, Vaur D, Krieger S
Fam Cancer 2017 Apr;16(2):167-171. doi: 10.1007/s10689-016-9940-2. PMID: 27783335
Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations.
Gates MA, Tworoger SS, Terry KL, De Vivo I, Hunter DJ, Hankinson SE, Cramer DW
Int J Cancer 2009 Feb 1;124(3):729-33. doi: 10.1002/ijc.23924. PMID: 18973230Free PMC Article
Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility.
Sinilnikova OM, Ginolhac SM, Magnard C, Léoné M, Anczukow O, Hughes D, Moreau K, Thompson D, Coutanson C, Hall J, Romestaing P, Gérard JP, Bonadona V, Lasset C, Goldgar DE, Joulin V, Venezia ND, Lenoir GM
Carcinogenesis 2004 Dec;25(12):2417-24. Epub 2004 Aug 27 doi: 10.1093/carcin/bgh273. PMID: 15333468

Prognosis

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Felicio PS, Grasel RS, Campacci N, de Paula AE, Galvão HCR, Torrezan GT, Sabato CS, Fernandes GC, Souza CP, Michelli RD, Andrade CE, Barros BDF, Matsushita MM, Revil T, Ragoussis J, Couch FJ, Hart SN, Reis RM, Melendez ME, Tonin PN, Carraro DM, Palmero EI
Hum Mutat 2021 Mar;42(3):290-299. Epub 2020 Dec 28 doi: 10.1002/humu.24158. PMID: 33326660Free 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
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
Familial pancreatic carcinoma in Jews.
Lynch HT, Deters CA, Lynch JF, Brand RE
Fam Cancer 2004;3(3-4):233-40. doi: 10.1007/s10689-004-9549-8. PMID: 15516847
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

Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe.
Marmolejo DH, Wong MYZ, Bajalica-Lagercrantz S, Tischkowitz M, Balmaña J; extended ERN-GENTURIS Thematic Group 3
Eur J Med Genet 2021 Dec;64(12):104350. Epub 2021 Oct 1 doi: 10.1016/j.ejmg.2021.104350. PMID: 34606975
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Felicio PS, Grasel RS, Campacci N, de Paula AE, Galvão HCR, Torrezan GT, Sabato CS, Fernandes GC, Souza CP, Michelli RD, Andrade CE, Barros BDF, Matsushita MM, Revil T, Ragoussis J, Couch FJ, Hart SN, Reis RM, Melendez ME, Tonin PN, Carraro DM, Palmero EI
Hum Mutat 2021 Mar;42(3):290-299. Epub 2020 Dec 28 doi: 10.1002/humu.24158. PMID: 33326660Free 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
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 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

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