The Frequency of BRCA1 Founder Mutation C.5266dupC (5382insC) in Breast Cancer Patients from Ukraine

Overview

Journal Hered Cancer Clin Pract

Publisher Biomed Central

Specialty Oncology

Date 2015 Oct 16

PMID 26468334

Citations 7

Authors

Ielizaveta Gorodetska

Svitlana Serga

Natalia Levkovich

Tetiana Lahuta

Ludmila Ostapchenko

Serhyi Demydov

Nikolay Anikusko

Valeriy Cheshuk

Ivan Smolanka

Svitlana Sklyar

Serhyi Polenkov

Oleksander Boichenko

Iryna Kozeretska

Affiliations

Soon will be listed here.

Abstract

Germ-line mutations in several genes, such as BRCA1 and BRCA2, are known to increase the risk of breast cancer. These heritable mutations are unequally represented among populations with different ethnic background due to founder effects and thereby contribute to differences in breast cancer rates in different populations. The BRCA1 mutation c.5266dupC (also known as 5382insC or 5385insC) was detected in a sample of 193 breast cancer patients in Ukraine by multiplex mutagenically separated PCR using published specific primers. Nine BRCA1 mutations 5382insC were detected (4.7 %). The difference in age of diagnosis (35 years in 5382insC carriers versus 45 years in non-carriers) we observed is consistent with other reports indicating that the 5382insC mutation is a factor of genetic predisposition to breast cancer, which is consistent with reports from other countries.

Citing Articles

Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.

Zhunussova G, Omarbayeva N, Kaidarova D, Abdikerim S, Mit N, Kisselev I Oncotarget. 2023; 14:860-877.

PMID: 37791908 PMC: 10549772. DOI: 10.18632/oncotarget.28518.

Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Goidescu I, Nemeti G, Surcel M, Caracostea G, Florian A, Cruciat G Cancers (Basel). 2023; 15(6).

PMID: 36980780 PMC: 10047778. DOI: 10.3390/cancers15061895.

Genetic, Surgical and Oncological Approach to Breast Cancer, with and Variants.

Subasioglu A, Guc Z, Gur E, Tekindal M, Atahan M Eur J Breast Health. 2023; 19(1):55-69.

PMID: 36605468 PMC: 9806937. DOI: 10.4274/ejbh.galenos.2022.2022-7-2.

Methylation of promoter region of BRCA1 gene versus pathogenic variants of gene: risk factor or clinical marker of breast cancer.

Lobanova O, Medvedieva N, Fishchuk L, Dubitska O, Cheshuk V, Vereshchako R Breast Cancer Res Treat. 2022; 196(3):505-515.

PMID: 36284026 DOI: 10.1007/s10549-022-06774-2.

Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis.

Mikhaylenko D, Tanas A, Zaletaev D, Nemtsova M J Oncol. 2020; 2020:7363102.

PMID: 32612654 PMC: 7317306. DOI: 10.1155/2020/7363102.

References

Bogdanova N, Antonenkova N, Rogov Y, Karstens J, Hillemanns P, Dork T . High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus. Clin Genet. 2010; 78(4):364-72. DOI: 10.1111/j.1399-0004.2010.01473.x. View

Finch A, Beiner M, Lubinski J, Lynch H, Moller P, Rosen B . Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA. 2006; 296(2):185-92. DOI: 10.1001/jama.296.2.185. View

Couch F, Nathanson K, Offit K . Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science. 2014; 343(6178):1466-70. PMC: 4074902. DOI: 10.1126/science.1251827. View

Chan P, Wong B, Ozcelik H, Cole D . Simple and rapid detection of BRCA1 and BRCA2 mutations by multiplex mutagenically separated PCR. Clin Chem. 1999; 45(8 Pt 1):1285-7. View

Tong A, Kelly S, Nusbaum R, Graves K, Peshkin B, Valdimarsdottir H . Intentions for risk-reducing surgery among high-risk women referred for BRCA1/BRCA2 genetic counseling. Psychooncology. 2014; 24(1):33-9. PMC: 4234699. DOI: 10.1002/pon.3560. View

McCarthy A, Armstrong K . The role of testing for BRCA1 and BRCA2 mutations in cancer prevention. JAMA Intern Med. 2014; 174(7):1023-4. PMC: 4169670. DOI: 10.1001/jamainternmed.2014.1322. View

Edlich R, Winters K, Lin K . Breast cancer and ovarian cancer genetics. J Long Term Eff Med Implants. 2005; 15(5):533-45. DOI: 10.1615/jlongtermeffmedimplants.v15.i5.60. View

Rubinstein W . Hereditary breast cancer in Jews. Fam Cancer. 2004; 3(3-4):249-57. DOI: 10.1007/s10689-004-9550-2. View

Saadatmand S, Vos J, Hooning M, Oosterwijk J, Koppert L, de Bock G . Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: a national cohort study. Int J Cancer. 2014; 135(12):2940-9. DOI: 10.1002/ijc.28941. View

10.

Levy-Lahad E, Friedman E . Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2007; 96(1):11-5. PMC: 2360226. DOI: 10.1038/sj.bjc.6603535. View

11.

Navarro de Souza A, Groleau D, Loiselle C, Foulkes W, Wong N . Cultural aspects of healthy BRCA carriers from two ethnocultural groups. Qual Health Res. 2014; 24(5):665-81. DOI: 10.1177/1049732314528756. View

12.

Zakhartseva L, Gorovenko N, Podolskaya S, Anikusko N, Lobanova O, Pekur K . Breast cancer immunohistochemical features in young women with BRCA 1/2 mutations. Exp Oncol. 2009; 31(3):174-8. View

13.

Sokolenko A, Mitiushkina N, Buslov K, Bit-Sava E, Iyevleva A, Chekmariova E . High frequency of BRCA1 5382insC mutation in Russian breast cancer patients. Eur J Cancer. 2006; 42(10):1380-4. DOI: 10.1016/j.ejca.2006.01.050. View

14.

Kurian A, Sigal B, Plevritis S . Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. J Clin Oncol. 2009; 28(2):222-31. PMC: 2815712. DOI: 10.1200/JCO.2009.22.7991. View

15.

Mostowska A, Pawlik P, Sajdak S, Markowska J, Pawalowska M, Lianeri M . An analysis of polymorphisms within the Wnt signaling pathway in relation to ovarian cancer risk in a Polish population. Mol Diagn Ther. 2013; 18(1):85-91. PMC: 3899496. DOI: 10.1007/s40291-013-0059-y. View

16.

Tai Y, Domchek S, Parmigiani G, Chen S . Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2007; 99(23):1811-4. PMC: 2267289. DOI: 10.1093/jnci/djm203. View

17.

Sharma P, Klemp J, Kimler B, Mahnken J, Geier L, Khan Q . Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing. Breast Cancer Res Treat. 2014; 145(3):707-14. PMC: 4171847. DOI: 10.1007/s10549-014-2980-0. View

18.

Karami F, Mehdipour P . A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. Biomed Res Int. 2013; 2013:928562. PMC: 3838820. DOI: 10.1155/2013/928562. View

19.

Petrucelli N, Daly M, Feldman G . Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genet Med. 2010; 12(5):245-59. DOI: 10.1097/GIM.0b013e3181d38f2f. View

20.

ODonovan P, Livingston D . BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair. Carcinogenesis. 2010; 31(6):961-7. DOI: 10.1093/carcin/bgq069. View