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BRCA2 Gene Mutation

MedGen UID:
267020
•Concept ID:
C1511024
•
Cell or Molecular Dysfunction
Synonyms: BRCA2 Mutation; BRCC2 Gene Mutation; Breast Cancer 2 Gene Mutation; Breast Cancer 2, Early Onset Gene Mutation; Breast Cancer Type 2 Susceptibility Gene Mutation; BROVCA2 Gene Mutation; FANCD1 Gene Mutation; Mutation of the BRCA2 Gene; XRCC11 Gene Mutation

Definition

A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA2 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA2 gene. Most of these alterations result in a truncated form of the breast cancer type 2 susceptibility protein. Mutations in the BRCA2 gene predispose males to breast cancer. [from NCI]

Professional guidelines

PubMed

Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature.
Lombardi L, Bramanti SM, Babore A, Stuppia L, Trumello C, Antonucci I, Cavallo A
Support Care Cancer 2019 Oct;27(10):3647-3656. Epub 2019 Jun 15 doi: 10.1007/s00520-019-04918-7. PMID: 31203511
The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.
Bunnell AE, Garby CA, Pearson EJ, Walker SA, Panos LE, Blum JL
J Genet Couns 2017 Feb;26(1):105-112. Epub 2016 Jun 9 doi: 10.1007/s10897-016-9985-2. PMID: 27276934
Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.
Siu AL; U.S. Preventive Services Task Force
Ann Intern Med 2016 Feb 16;164(4):279-96. Epub 2016 Jan 12 doi: 10.7326/M15-2886. PMID: 26757170

Recent clinical studies

Etiology

Non-BRCA Early-Onset Breast Cancer in Young Women.
Gao Y, Samreen N, Heller SL
Radiographics 2022 Jan-Feb;42(1):5-22. doi: 10.1148/rg.210109. PMID: 34990317
BRCA2 gene mutation and prostate cancer risk. Comprehensive review and update.
Junejo NN, AlKhateeb SS
Saudi Med J 2020 Jan;41(1):9-17. doi: 10.15537/smj.2020.1.24759. PMID: 31915789Free PMC Article
Are BRCA1 and BRCA2 gene mutation patients underscreened for pancreatic adenocarcinoma?
Roch AM, Schneider J, Carr RA, Lancaster WP, House MG, Zyromski NJ, Nakeeb A, Schmidt CM, Ceppa EP
J Surg Oncol 2019 May;119(6):777-783. Epub 2019 Jan 12 doi: 10.1002/jso.25376. PMID: 30636051
Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.
Siu AL; U.S. Preventive Services Task Force
Ann Intern Med 2016 Feb 16;164(4):279-96. Epub 2016 Jan 12 doi: 10.7326/M15-2886. PMID: 26757170
Prophylactic mastectomy: why and when?
von Smitten K
J Br Menopause Soc 2003 Dec;9(4):151-5. doi: 10.1258/136218003323010584. PMID: 15107257

Diagnosis

Comparing breast cancer imaging characteristics of CHEK2 with BRCA1 and BRCA2 gene mutation carriers.
Ghunaim H, Laenen A, De Keyzer F, Soens J, Keupers M, Postema S, Neven P, Van Ongeval C
Eur J Radiol 2022 Jan;146:110074. Epub 2021 Nov 26 doi: 10.1016/j.ejrad.2021.110074. PMID: 34902667
BRCA2 gene mutation and prostate cancer risk. Comprehensive review and update.
Junejo NN, AlKhateeb SS
Saudi Med J 2020 Jan;41(1):9-17. doi: 10.15537/smj.2020.1.24759. PMID: 31915789Free PMC Article
Rucaparib Approved for Ovarian Cancer.
Cancer Discov 2017 Feb;7(2):120-121. Epub 2017 Jan 5 doi: 10.1158/2159-8290.CD-NB2016-164. PMID: 28057616
Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.
Siu AL; U.S. Preventive Services Task Force
Ann Intern Med 2016 Feb 16;164(4):279-96. Epub 2016 Jan 12 doi: 10.7326/M15-2886. PMID: 26757170
Prophylactic mastectomy: why and when?
von Smitten K
J Br Menopause Soc 2003 Dec;9(4):151-5. doi: 10.1258/136218003323010584. PMID: 15107257

Therapy

The incidence of cardiomyopathy in BRCA1 and BRCA2 mutation carriers after anthracycline-based adjuvant chemotherapy.
Pearson EJ, Nair A, Daoud Y, Blum JL
Breast Cancer Res Treat 2017 Feb;162(1):59-67. Epub 2017 Jan 9 doi: 10.1007/s10549-016-4101-8. PMID: 28066861
Rucaparib Approved for Ovarian Cancer.
Cancer Discov 2017 Feb;7(2):120-121. Epub 2017 Jan 5 doi: 10.1158/2159-8290.CD-NB2016-164. PMID: 28057616
Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.
Siu AL; U.S. Preventive Services Task Force
Ann Intern Med 2016 Feb 16;164(4):279-96. Epub 2016 Jan 12 doi: 10.7326/M15-2886. PMID: 26757170
Effect of BRCA2 mutation on familial breast cancer survival: A systematic review and meta-analysis.
Shao J, Yang J, Wang JN, Qiao L, Fan W, Gao QL, Feng YJ
J Huazhong Univ Sci Technolog Med Sci 2015 Oct;35(5):629-634. Epub 2015 Oct 22 doi: 10.1007/s11596-015-1481-7. PMID: 26489613
Prophylactic mastectomy: why and when?
von Smitten K
J Br Menopause Soc 2003 Dec;9(4):151-5. doi: 10.1258/136218003323010584. PMID: 15107257

Prognosis

Non-BRCA Early-Onset Breast Cancer in Young Women.
Gao Y, Samreen N, Heller SL
Radiographics 2022 Jan-Feb;42(1):5-22. doi: 10.1148/rg.210109. PMID: 34990317
Correlation of BRCA2 gene mutation and prognosis as well as variant genes in invasive urothelial carcinoma of the bladder.
Kuang S, Li H, Feng J, Xu S, Le Y
Cancer Biomark 2019;25(2):203-212. doi: 10.3233/CBM-182379. PMID: 31045513
Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.
Siu AL; U.S. Preventive Services Task Force
Ann Intern Med 2016 Feb 16;164(4):279-96. Epub 2016 Jan 12 doi: 10.7326/M15-2886. PMID: 26757170
Effect of BRCA2 mutation on familial breast cancer survival: A systematic review and meta-analysis.
Shao J, Yang J, Wang JN, Qiao L, Fan W, Gao QL, Feng YJ
J Huazhong Univ Sci Technolog Med Sci 2015 Oct;35(5):629-634. Epub 2015 Oct 22 doi: 10.1007/s11596-015-1481-7. PMID: 26489613
Prophylactic mastectomy: why and when?
von Smitten K
J Br Menopause Soc 2003 Dec;9(4):151-5. doi: 10.1258/136218003323010584. PMID: 15107257

Clinical prediction guides

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
Kharel S, Shrestha S, Yadav S, Shakya P, Baidya S, Hirachan S
J Int Med Res 2022 Jan;50(1):3000605211070757. doi: 10.1177/03000605211070757. PMID: 35000471Free PMC Article
Do BRCA1 and BRCA2 gene mutation carriers have a reduced ovarian reserve? Protocol for a prospective observational study.
Winship AL, Willson C, Hansen KR, Hutt KJ, Hickey M
BMJ Open 2019 Nov 25;9(11):e033810. doi: 10.1136/bmjopen-2019-033810. PMID: 31772111Free PMC Article
Correlation of BRCA2 gene mutation and prognosis as well as variant genes in invasive urothelial carcinoma of the bladder.
Kuang S, Li H, Feng J, Xu S, Le Y
Cancer Biomark 2019;25(2):203-212. doi: 10.3233/CBM-182379. PMID: 31045513
Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study.
Lindor NM, Johnson KJ, Harvey H, Shane Pankratz V, Domchek SM, Hunt K, Wilson M, Cathie Smith M, Couch F
Fam Cancer 2010 Dec;9(4):495-502. doi: 10.1007/s10689-010-9348-3. PMID: 20512419Free PMC Article
Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers.
Hartmann LC, Sellers TA, Schaid DJ, Frank TS, Soderberg CL, Sitta DL, Frost MH, Grant CS, Donohue JH, Woods JE, McDonnell SK, Vockley CW, Deffenbaugh A, Couch FJ, Jenkins RB
J Natl Cancer Inst 2001 Nov 7;93(21):1633-7. doi: 10.1093/jnci/93.21.1633. PMID: 11698567

Recent systematic reviews

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
Kharel S, Shrestha S, Yadav S, Shakya P, Baidya S, Hirachan S
J Int Med Res 2022 Jan;50(1):3000605211070757. doi: 10.1177/03000605211070757. PMID: 35000471Free PMC Article
Effect of BRCA2 mutation on familial breast cancer survival: A systematic review and meta-analysis.
Shao J, Yang J, Wang JN, Qiao L, Fan W, Gao QL, Feng YJ
J Huazhong Univ Sci Technolog Med Sci 2015 Oct;35(5):629-634. Epub 2015 Oct 22 doi: 10.1007/s11596-015-1481-7. PMID: 26489613
Utilization of screening and preventive surgery among unaffected carriers of a BRCA1 or BRCA2 gene mutation.
Wainberg S, Husted J
Cancer Epidemiol Biomarkers Prev 2004 Dec;13(12):1989-95. PMID: 15598752

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