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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.
Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.

Professional guidelines

PubMed

Lin PH, Tien YW, Cheng WF, Chiang YC, Wu CH, Yang K, Huang CS
J Gynecol Oncol 2023 Sep;34(5):e66. Epub 2023 May 2 doi: 10.3802/jgo.2023.34.e66. PMID: 37170728Free PMC Article
Annoni AM, Longhini C
PLoS One 2022;17(3):e0265387. Epub 2022 Mar 18 doi: 10.1371/journal.pone.0265387. PMID: 35303741Free PMC Article
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

Recent clinical studies

Etiology

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
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
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
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
Gallion HH, Smith SA
Semin Surg Oncol 1994 Jul-Aug;10(4):249-54. doi: 10.1002/ssu.2980100404. PMID: 8091066

Diagnosis

Schwartz M, Ibadioune S, Chansavang A, Vacher S, Caputo SM, Delhomelle H, Wong J, Abidallah K, Moncoutier V, Becette V, Popova T, Suybeng V, De Pauw A, Stern MH, Colas C, Mouret-Fourme E, Stoppa-Lyonnet D, Golmard L, Bieche I, Masliah-Planchon J
J Med Genet 2024 Feb 21;61(3):284-288. doi: 10.1136/jmg-2023-109325. PMID: 37748860
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
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
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
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

Therapy

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
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
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
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
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

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
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
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
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
Gallion HH, Smith SA
Semin Surg Oncol 1994 Jul-Aug;10(4):249-54. doi: 10.1002/ssu.2980100404. PMID: 8091066

Clinical prediction guides

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
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
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
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
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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