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BRCA Gene Mutation

MedGen UID:
1792104
•Concept ID:
C5555663
•
Cell or Molecular Dysfunction
Synonyms: BRCA Family Gene Mutation; BRCA Family Mutation; BRCA Gene Family Mutation; BRCA Mutation

Definition

A change in the nucleotide sequence of a gene in the BRCA family. [from NCI]

Professional guidelines

PubMed

Importance of BRCA mutation for the current treatment of pancreatic cancer beyond maintenance.
Martínez-Galán J, Rodriguez I, Caba O
World J Gastroenterol 2021 Oct 21;27(39):6515-6521. doi: 10.3748/wjg.v27.i39.6515. PMID: 34754149Free PMC Article
EAU-EANM-ESTRO-ESUR-SIOG Guidelines on Prostate Cancer-2020 Update. Part 1: Screening, Diagnosis, and Local Treatment with Curative Intent.
Mottet N, van den Bergh RCN, Briers E, Van den Broeck T, Cumberbatch MG, De Santis M, Fanti S, Fossati N, Gandaglia G, Gillessen S, Grivas N, Grummet J, Henry AM, van der Kwast TH, Lam TB, Lardas M, Liew M, Mason MD, Moris L, Oprea-Lager DE, van der Poel HG, Rouvière O, Schoots IG, Tilki D, Wiegel T, Willemse PM, Cornford P
Eur Urol 2021 Feb;79(2):243-262. Epub 2020 Nov 7 doi: 10.1016/j.eururo.2020.09.042. PMID: 33172724
Pancreatic cancer: BRCA mutation and personalized treatment.
Luo G, Lu Y, Jin K, Cheng H, Guo M, Liu Z, Long J, Liu C, Ni Q, Yu X
Expert Rev Anticancer Ther 2015;15(10):1223-31. Epub 2015 Sep 7 doi: 10.1586/14737140.2015.1086271. PMID: 26402249

Recent clinical studies

Etiology

Postmenopausal hormone therapy in BRCA gene mutation carriers: to whom and which?
Grandi G, Caroli M, Cortesi L, Toss A, Tazzioli G, Facchinetti F
Expert Opin Drug Saf 2020 Aug;19(8):1025-1030. Epub 2020 Jul 10 doi: 10.1080/14740338.2020.1791818. PMID: 32648787
Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Cheng HS, Yang AS
BMC Cancer 2018 Mar 22;18(1):315. doi: 10.1186/s12885-018-4229-5. PMID: 29566657Free PMC Article
The Preventive Intervention of Hereditary Breast Cancer.
Cao A, Huang L, Shao Z
Adv Exp Med Biol 2017;1026:41-57. doi: 10.1007/978-981-10-6020-5_3. PMID: 29282679
Nipple-Sparing Mastectomy and Its Application on BRCA Gene Mutation Carrier.
Co M, Chiu R, Chiu TM, Chong YC, Lau S, Lee YH, To HM, Kwong A
Clin Breast Cancer 2017 Dec;17(8):581-584. Epub 2017 Feb 14 doi: 10.1016/j.clbc.2017.02.001. PMID: 28428099
Risk-reducing mastectomy for BRCA gene mutation carriers.
Euhus DM
Ann Surg Oncol 2015 Sep;22(9):2807-9. Epub 2015 Mar 28 doi: 10.1245/s10434-015-4537-9. PMID: 25821000

Diagnosis

Medicolegal and insurance issues regarding BRCA1 and BRCA2 gene tests in high income countries.
Oliva R, Grassi S, Marchetti C, Cazzato F, Marinelli R, Scambia G, Fagotti A
Int J Gynecol Cancer 2024 Jun 3;34(6):935-941. doi: 10.1136/ijgc-2023-005225. PMID: 38642925
Hereditary breast and ovarian cancer: from genes to molecular targeted therapies.
Ponti G, De Angelis C, Ponti R, Pongetti L, Losi L, Sticchi A, Tomasi A, Ozben T
Crit Rev Clin Lab Sci 2023 Dec;60(8):640-650. Epub 2023 Jul 16 doi: 10.1080/10408363.2023.2234488. PMID: 37455374
MRI appearance of BRCA-associated prostate cancer.
Kamal O, Foster BR, Young DJ, Hansel DE, Coakley FV
Clin Imaging 2022 Apr;84:135-139. Epub 2022 Feb 19 doi: 10.1016/j.clinimag.2022.02.007. PMID: 35217282
Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Cheng HS, Yang AS
BMC Cancer 2018 Mar 22;18(1):315. doi: 10.1186/s12885-018-4229-5. PMID: 29566657Free PMC Article
Pancreatic cancer: BRCA mutation and personalized treatment.
Luo G, Lu Y, Jin K, Cheng H, Guo M, Liu Z, Long J, Liu C, Ni Q, Yu X
Expert Rev Anticancer Ther 2015;15(10):1223-31. Epub 2015 Sep 7 doi: 10.1586/14737140.2015.1086271. PMID: 26402249

Therapy

Importance of BRCA mutation for the current treatment of pancreatic cancer beyond maintenance.
Martínez-Galán J, Rodriguez I, Caba O
World J Gastroenterol 2021 Oct 21;27(39):6515-6521. doi: 10.3748/wjg.v27.i39.6515. PMID: 34754149Free PMC Article
Prevalence of Tissue BRCA Gene Mutation in Ovarian, Fallopian Tube, and Primary Peritoneal Cancers: A Multi-Institutional Study.
Lertkhachonsuk AA, Suprasert P, Manchana T, Kittisiam T, Kantathavorn N, Chansoon T, Khunamornpong S, Pohthipornthawat N, Tangjitgamol S, Luasiripanthu T, Teerapakpinyo C, Shuangshot S, Iemwimangsa N, Chantratita W
Asian Pac J Cancer Prev 2020 Aug 1;21(8):2381-2388. doi: 10.31557/APJCP.2020.21.8.2381. PMID: 32856869Free PMC Article
Hormone Replacement Therapy Prescription after Premature Surgical Menopause.
Garg N, Behbehani S, Kosiorek H, Wasson M
J Minim Invasive Gynecol 2020 Nov-Dec;27(7):1618-1623. Epub 2020 Mar 13 doi: 10.1016/j.jmig.2020.03.002. PMID: 32173578
Combined hormonal contraceptives in BRCA gene mutation carriers: why not?
Grandi G, Sammarini M, Del Savio MC, Toss A, Facchinetti F
Eur J Contracept Reprod Health Care 2019 Dec;24(6):417-419. Epub 2019 Jul 30 doi: 10.1080/13625187.2019.1647335. PMID: 31361161
Effectiveness and safety of poly (ADP-ribose) polymerase inhibitors in cancer therapy: A systematic review and meta-analysis.
Bao Z, Cao C, Geng X, Tian B, Wu Y, Zhang C, Chen Z, Li W, Shen H, Ying S
Oncotarget 2016 Feb 16;7(7):7629-39. doi: 10.18632/oncotarget.5367. PMID: 26399274Free PMC Article

Prognosis

Hereditary breast and ovarian cancer: from genes to molecular targeted therapies.
Ponti G, De Angelis C, Ponti R, Pongetti L, Losi L, Sticchi A, Tomasi A, Ozben T
Crit Rev Clin Lab Sci 2023 Dec;60(8):640-650. Epub 2023 Jul 16 doi: 10.1080/10408363.2023.2234488. PMID: 37455374
MRI appearance of BRCA-associated prostate cancer.
Kamal O, Foster BR, Young DJ, Hansel DE, Coakley FV
Clin Imaging 2022 Apr;84:135-139. Epub 2022 Feb 19 doi: 10.1016/j.clinimag.2022.02.007. PMID: 35217282
Importance of BRCA mutation for the current treatment of pancreatic cancer beyond maintenance.
Martínez-Galán J, Rodriguez I, Caba O
World J Gastroenterol 2021 Oct 21;27(39):6515-6521. doi: 10.3748/wjg.v27.i39.6515. PMID: 34754149Free PMC Article
Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Cheng HS, Yang AS
BMC Cancer 2018 Mar 22;18(1):315. doi: 10.1186/s12885-018-4229-5. PMID: 29566657Free PMC Article
The Preventive Intervention of Hereditary Breast Cancer.
Cao A, Huang L, Shao Z
Adv Exp Med Biol 2017;1026:41-57. doi: 10.1007/978-981-10-6020-5_3. PMID: 29282679

Clinical prediction guides

Hereditary breast and ovarian cancer: from genes to molecular targeted therapies.
Ponti G, De Angelis C, Ponti R, Pongetti L, Losi L, Sticchi A, Tomasi A, Ozben T
Crit Rev Clin Lab Sci 2023 Dec;60(8):640-650. Epub 2023 Jul 16 doi: 10.1080/10408363.2023.2234488. PMID: 37455374
Importance of BRCA mutation for the current treatment of pancreatic cancer beyond maintenance.
Martínez-Galán J, Rodriguez I, Caba O
World J Gastroenterol 2021 Oct 21;27(39):6515-6521. doi: 10.3748/wjg.v27.i39.6515. PMID: 34754149Free PMC Article
Effects of BRCA gene mutation on female reproductive potential: A systematic review.
Hu KL, Wang S, Ye X, Zhang D
Maturitas 2020 Jul;137:11-17. Epub 2020 Apr 23 doi: 10.1016/j.maturitas.2020.04.011. PMID: 32498931
The Preventive Intervention of Hereditary Breast Cancer.
Cao A, Huang L, Shao Z
Adv Exp Med Biol 2017;1026:41-57. doi: 10.1007/978-981-10-6020-5_3. PMID: 29282679
Synthetic lethality: the road to novel therapies for breast cancer.
Dhillon KK, Bajrami I, Taniguchi T, Lord CJ
Endocr Relat Cancer 2016 Oct;23(10):T39-55. Epub 2016 Aug 15 doi: 10.1530/ERC-16-0228. PMID: 27528623

Recent systematic reviews

Outcome and Management of Serous Tubal Intraepithelial Carcinoma Following Opportunistic Salpingectomy: Systematic Review and Meta-Analysis.
Ruel-Laliberté J, Kasasni SM, Oprea D, Viau M
J Obstet Gynaecol Can 2022 Nov;44(11):1174-1180. Epub 2022 Sep 12 doi: 10.1016/j.jogc.2022.08.018. PMID: 36099965
Effects of BRCA gene mutation on female reproductive potential: A systematic review.
Hu KL, Wang S, Ye X, Zhang D
Maturitas 2020 Jul;137:11-17. Epub 2020 Apr 23 doi: 10.1016/j.maturitas.2020.04.011. PMID: 32498931
Risk Reduction and Survival Benefit of Risk-Reducing Salpingo-oophorectomy in Hereditary Breast Cancer: Meta-analysis and Systematic Review.
Xiao YL, Wang K, Liu Q, Li J, Zhang X, Li HY
Clin Breast Cancer 2019 Feb;19(1):e48-e65. Epub 2018 Oct 4 doi: 10.1016/j.clbc.2018.09.011. PMID: 30470623
Effectiveness and safety of poly (ADP-ribose) polymerase inhibitors in cancer therapy: A systematic review and meta-analysis.
Bao Z, Cao C, Geng X, Tian B, Wu Y, Zhang C, Chen Z, Li W, Shen H, Ying S
Oncotarget 2016 Feb 16;7(7):7629-39. doi: 10.18632/oncotarget.5367. PMID: 26399274Free PMC Article

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