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).
Highlights
The incidence of cancer is increasing rapidly all over the world
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
From 1994 to 2021, 2,373 people with a family history of high-risk breast and/or ovarian cancer who applied to Istanbul University, Oncology Institute, Department of Cancer Genetics and met the National Comprehensive Cancer Network (NCCN) BRCA1/2 test requirements received genetic counseling
Summary
The incidence of cancer is increasing rapidly all over the world. Breast and ovarian cancers, which are common in women, are among the leading causes of cancer morbidity and mortality around the world. 2.088.849 (11.6%) individuals are newly diagnosed with breast cancer, while 295.414 (1.6%) people are newly diagnosed with ovarian cancer, according to Globocan 2018 data. According to Globocan 2018 Turkey data; In 2018, 22.375 (10.6%) people were newly diagnosed with breast cancer; 3,729 (1.8%) people were diagnosed with ovarian cancer [1]. Mutations in high penetrance susceptibility genes like BRCA1/2 are linked to the majority of inherited breast and ovarian malignancies [4]. Because the majority of breast and ovarian cancers are hereditary, it’s critical to look into BRCA1/2 gene variations in patients who have a family history of breast, ovarian, or other malignancies. Individuals at high risk of breast or ovarian cancer are provided genetic counseling before BRCA1/2 mutation testing in most developed nations. Genetic counseling is an important technique that should be used when asking and recording questions about people’s medical histories, reviewing their family histories precisely and comprehensively, and selecting the right people for genetic test
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