Advanced search
Publication Cover
Breast Cancer: Targets and Therapy Volume 15, 2023 - Issue
Submit an article Journal homepage
267
Views
1
CrossRef citations to date
0
Altmetric
ORIGINAL RESEARCH

Detecting the Frequency of c.5946delT Pathogenic Variant in the BRCA2 Gene and Associated Risk Factors Among Breast Cancer Patients Visiting Felege Hiwot Referral Hospital and University of Gondar Comprehensive Specialized Hospital

Nega Berhane1 Department of Medical Biotechnology, Institute of Biotechnology, University of Gondar, Gondar, EthiopiaORCID Iconhttps://orcid.org/0000-0003-1492-2746View further author information
ORCID Icon,
Zemene Chekol1 Department of Medical Biotechnology, Institute of Biotechnology, University of Gondar, Gondar, EthiopiaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0009-0005-9703-3689View further author information
ORCID Icon &
Aynias Seid1 Department of Medical Biotechnology, Institute of Biotechnology, University of Gondar, Gondar, Ethiopia;2 Department of Biology, Faculty of Natural and Computational Science, Debre-Tabor University, Debre-Tabor, EthiopiaORCID Iconhttps://orcid.org/0000-0002-1304-7129View further author information
ORCID Icon
Pages 421-427 | Received 27 Mar 2023, Accepted 14 Jun 2023, Published online: 19 Jun 2023

References

  • Deressa BT, Cihoric N, Badra EV, Tsikkinis A, Rauch D. Breast cancer care in northern Ethiopia–cross-sectional analysis. BMC Cancer. 2019;19(1):1–6. doi:10.1186/s12885-019-5612-6
  • WHO. Report; 2020. Available from: http://www.who.int/cancer/prevention/diagnosisscreening/breastcancer/en/. Accessed October 5, 2021.
  • Tsu VD, Jeronimo J, Anderson BO. Why the time is right to tackle breast and cervical cancer in low-resource settings. Bull World Health Organ. 2013;91:683–690. doi:10.2471/BLT.12.116020
  • Memirie ST, Habtemariam MK, Asefa M, et al. Estimates of cancer incidence in Ethiopia in 2015 using population-based registry data. J Glob Oncol. 2018;4:1–11. doi:10.1200/JGO.17.00175
  • Antoniou AC, Easton D. Models of genetic susceptibility to breast cancer. Oncogene. 2006;25(43):5898–5905. doi:10.1038/sj.onc.1209879
  • Skol AD, Sasaki MM, Onel K. The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance. Breast Cancer Res. 2016;18(1):1–8. doi:10.1186/s13058-016-0759-4
  • Barnes DR, Antoniou AC. Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers. J Intern Med. 2012;271(4):331–343. doi:10.1111/j.1365-2796.2011.02502.x
  • Gonzalez-Hormazabal P, Gutierrez-Enriquez S, Gaete D, et al. Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. Breast Cancer Res Treat. 2011;126:705–716. doi:10.1007/s10549-010-1170-y
  • Wang L. Microwave sensors for breast cancer detection. Sensors. 2018;18(2):655. doi:10.3390/s18020655
  • Central Statistical Agency. The Central Statistical Agency of the Government of Ethiopia. Central Statistical Agency; 2015.
  • Gaaib JN, Nassief AF, Al-Assi A. Simple salting-out method for genomic DNA extraction from whole blood. Tikrit J Pure Sci. 2011;16(2):1813.
  • Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25(11):1329. doi:10.1200/JCO.2006.09.1066
  • Michalska D, Jaguszewska K, Liss J, Kitowska K, Mirecka A, Łukaszuk K. Comparison of whole genome amplification and nested-PCR methods for preimplantation genetic diagnosis for BRCA1 gene mutation on unfertilized oocytes–a pilot study. Hered Cancer Clin Pract. 2013;11:1–9. doi:10.1186/1897-4287-11-10
  • Michailidou K, Beesley J, Lindstrom S, et al. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat Genet. 2015;47(4):373–380. doi:10.1038/ng.3242
  • Higuchi M, Antonarakis SE, Kasch L, et al. Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci. 1991;88(19):8307–8311. doi:10.1073/pnas.88.19.8307
  • Tonin P, Weber B, Offit K, et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med. 1996;2(11):1179–1183. doi:10.1038/nm1196-1179
  • Sitompul Y, Syukur S, Syafrizayanti S, Purwati E. Absence of BRCA1 185delAG, BRCA1 5382InsC and BRCA2 6174delT among hereditary breast cancer patients in North Sumatera, Indonesia. Am Acad Sci Res J Eng Technol Sci. 2017;38(2):152–160.
  • Elfandi L, Said G, Saleh SS, Marwan M, Enattah N. Analysis of 6174delT mutation in BRCA2 gene by mutagenically separated PCR among Libyan patients with breast cancer. Arch Breast Cancer. 2016;2016:8–13.
  • Neuhausen S, Gilewski T, Norton L, et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet. 1996;13(1):126–128. doi:10.1038/ng0596-126
  • Abeliovich D, Kaduri L, Lerer I, et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet. 1997;60(3):505.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.