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BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome

MedGen UID:
231923
•Concept ID:
C1332443
•
Neoplastic Process
Synonyms: BRCA2 Syndrome; Site Specific Early Onset Breast Cancer Syndrome

Definition

An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA2 gene. Patients are at high risk of developing female and male breast cancer, ovarian cancer, and other cancers including prostatic cancer, pancreatic cancer, gastric cancer, and melanoma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome

Professional guidelines

PubMed

Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions.
Lancaster JM, Powell CB, Chen LM, Richardson DL; SGO Clinical Practice Committee
Gynecol Oncol 2015 Jan;136(1):3-7. Epub 2014 Sep 17 doi: 10.1016/j.ygyno.2014.09.009. PMID: 25238946
A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening.
Bonaïti B, Alarcon F, Andrieu N, Bonadona V, Dondon MG, Pennec S, Stoppa-Lyonnet D, Bonaïti-Pellié C, Perdry H
J Med Genet 2014 Feb;51(2):114-21. Epub 2013 Dec 16 doi: 10.1136/jmedgenet-2013-101674. PMID: 24343917
Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions.
Lancaster JM, Powell CB, Kauff ND, Cass I, Chen LM, Lu KH, Mutch DG, Berchuck A, Karlan BY, Herzog TJ; Society of Gynecologic Oncologists Education Committee
Gynecol Oncol 2007 Nov;107(2):159-62. doi: 10.1016/j.ygyno.2007.09.031. PMID: 17950381

Recent clinical studies

Etiology

A randomized controlled trial comparing self-referred message to family-referred message promoting men's adherence to evidence-based guidelines on BRCA1/2 germline genetic testing: A registered study protocol.
Petrocchi S, Ongaro G, Calvello M, Feroce I, Bonanni B, Pravettoni G
PLoS One 2022;17(4):e0266327. Epub 2022 Apr 8 doi: 10.1371/journal.pone.0266327. PMID: 35395021Free PMC Article
Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits.
Van Heetvelde M, Van Bockstal M, Poppe B, Lambein K, Rosseel T, Atanesyan L, Deforce D, Van Den Berghe I, De Leeneer K, Van Dorpe J, Vral A, Claes KBM
Cancer Lett 2018 Jul 1;425:125-133. Epub 2018 Mar 23 doi: 10.1016/j.canlet.2018.03.026. PMID: 29580810
A Rare Case of BRCA2-Associated Breast Cancer in Pregnancy.
Leidhin CN, Heeney A, Connolly C, Swan N, Foster A, Geraghty J
Ir Med J 2015 Jul-Aug;108(7):217-8. PMID: 26349355
Beyond BRCA1 and BRCA2.
King-Spohn K, Pilarski R
Curr Probl Cancer 2014 Nov-Dec;38(6):235-48. Epub 2014 Nov 1 doi: 10.1016/j.currproblcancer.2014.10.004. PMID: 25497410
Breast cancer predisposition syndromes.
Hemel D, Domchek SM
Hematol Oncol Clin North Am 2010 Oct;24(5):799-814. doi: 10.1016/j.hoc.2010.06.004. PMID: 20816575

Diagnosis

Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.
Elalaoui SC, Laarabi FZ, Afif L, Lyahyai J, Ratbi I, Jaouad IC, Doubaj Y, Sahli M, Ouhenach M, Sefiani A
Breast Cancer Res Treat 2022 Jul;194(1):187-198. Epub 2022 May 17 doi: 10.1007/s10549-022-06622-3. PMID: 35578052
Identification of germline genetic mutations in patients with pancreatic cancer.
Salo-Mullen EE, O'Reilly EM, Kelsen DP, Ashraf AM, Lowery MA, Yu KH, Reidy DL, Epstein AS, Lincoln A, Saldia A, Jacobs LM, Rau-Murthy R, Zhang L, Kurtz RC, Saltz L, Offit K, Robson ME, Stadler ZK
Cancer 2015 Dec 15;121(24):4382-8. Epub 2015 Oct 6 doi: 10.1002/cncr.29664. PMID: 26440929Free PMC Article
Beyond BRCA1 and BRCA2.
King-Spohn K, Pilarski R
Curr Probl Cancer 2014 Nov-Dec;38(6):235-48. Epub 2014 Nov 1 doi: 10.1016/j.currproblcancer.2014.10.004. PMID: 25497410
A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening.
Bonaïti B, Alarcon F, Andrieu N, Bonadona V, Dondon MG, Pennec S, Stoppa-Lyonnet D, Bonaïti-Pellié C, Perdry H
J Med Genet 2014 Feb;51(2):114-21. Epub 2013 Dec 16 doi: 10.1136/jmedgenet-2013-101674. PMID: 24343917
Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
Casey MJ, Bewtra C, Lynch HT, Snyder C, Stacy M, Watson P
Fam Cancer 2013 Dec;12(4):719-40. doi: 10.1007/s10689-013-9651-x. PMID: 23666231

Therapy

A randomized controlled trial comparing self-referred message to family-referred message promoting men's adherence to evidence-based guidelines on BRCA1/2 germline genetic testing: A registered study protocol.
Petrocchi S, Ongaro G, Calvello M, Feroce I, Bonanni B, Pravettoni G
PLoS One 2022;17(4):e0266327. Epub 2022 Apr 8 doi: 10.1371/journal.pone.0266327. PMID: 35395021Free PMC Article

Prognosis

Identification of germline genetic mutations in patients with pancreatic cancer.
Salo-Mullen EE, O'Reilly EM, Kelsen DP, Ashraf AM, Lowery MA, Yu KH, Reidy DL, Epstein AS, Lincoln A, Saldia A, Jacobs LM, Rau-Murthy R, Zhang L, Kurtz RC, Saltz L, Offit K, Robson ME, Stadler ZK
Cancer 2015 Dec 15;121(24):4382-8. Epub 2015 Oct 6 doi: 10.1002/cncr.29664. PMID: 26440929Free PMC Article
A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening.
Bonaïti B, Alarcon F, Andrieu N, Bonadona V, Dondon MG, Pennec S, Stoppa-Lyonnet D, Bonaïti-Pellié C, Perdry H
J Med Genet 2014 Feb;51(2):114-21. Epub 2013 Dec 16 doi: 10.1136/jmedgenet-2013-101674. PMID: 24343917
Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
Casey MJ, Bewtra C, Lynch HT, Snyder C, Stacy M, Watson P
Fam Cancer 2013 Dec;12(4):719-40. doi: 10.1007/s10689-013-9651-x. PMID: 23666231

Clinical prediction guides

Identification of germline genetic mutations in patients with pancreatic cancer.
Salo-Mullen EE, O'Reilly EM, Kelsen DP, Ashraf AM, Lowery MA, Yu KH, Reidy DL, Epstein AS, Lincoln A, Saldia A, Jacobs LM, Rau-Murthy R, Zhang L, Kurtz RC, Saltz L, Offit K, Robson ME, Stadler ZK
Cancer 2015 Dec 15;121(24):4382-8. Epub 2015 Oct 6 doi: 10.1002/cncr.29664. PMID: 26440929Free PMC Article
A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening.
Bonaïti B, Alarcon F, Andrieu N, Bonadona V, Dondon MG, Pennec S, Stoppa-Lyonnet D, Bonaïti-Pellié C, Perdry H
J Med Genet 2014 Feb;51(2):114-21. Epub 2013 Dec 16 doi: 10.1136/jmedgenet-2013-101674. PMID: 24343917
Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
Casey MJ, Bewtra C, Lynch HT, Snyder C, Stacy M, Watson P
Fam Cancer 2013 Dec;12(4):719-40. doi: 10.1007/s10689-013-9651-x. PMID: 23666231

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