Evaluation of BRCA1/2 gene mutations in patients with high-risk breast and/or ovarian cancer in Turkey
Author:
Akdeniz Odemis Demet1ORCID, Celik Betul1ORCID, Kilic Erciyas Seda1ORCID, Sukruoglu Erdogan Ozge1ORCID, Tuncer Seref Bugra1ORCID, Kurt Gultaslar Busra1ORCID, Adamnejad Ghafour Arash1ORCID, Saip Pinar2ORCID, Yazici Hulya13ORCID
Affiliation:
1. Department of Cancer Genetics , Oncology Institute, Istanbul University , Istanbul , Turkey 2. Department of Medical Oncology , Oncology Institute, Istanbul University , Istanbul , Turkey 3. Department of Basic Medical Sciences , Istanbul Arel University , Istanbul , Turkey
Abstract
Abstract
Objectives
To find BRCA1/2 test selection criteria unique to the Turkish population, as well as to provide the BRCA1/2 gene mutation distributions of patient population to the literature.
Methods
Genetic counseling was given to 2,373 cases with a family history of high-risk breast and/or ovarian cancer who applied to Istanbul University, Oncology Institute, Department of Cancer Genetics between 1994 and 2021 and selected by NCCN Guidelines for the BRCA1/2 test criteria. In our clinic, mutation screenings in BRCA1/2 genes were performed by Sanger sequencing method in patients admitted between 1994 and 2014 and by NGS method in patients admitted between 2015 and 2021.
Results
The overall mutation rate in our patient group selected from high-risk patients was 16.5% (391/2,373) after BRCA1/2 gene mutation screening performed in 2,373 cases who applied to the Cancer Genetics clinic. Of the patients with mutations, 57.5% (225/391) had BRCA1 mutation, 41.9% (164/391) had BRCA2 mutation, and 0.6% (2/391) had both BRCA1 and BRCA2 pathogenic mutations. People diagnosed before the age of 60 who have a history of triple-negative breast cancer had a 28.5% overall mutation rate.
Conclusions
BRCA1/2 mutation in Turkish population were evaluated in accordance with NCCN BRCA1/2 genetic test selection criteria; we discovered that all of our study results were statistically significant (p<0.05).
Publisher
Walter de Gruyter GmbH
Subject
Biochemistry (medical),Clinical Biochemistry,Molecular Biology,Biochemistry
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