Aim: This study aims to determine the frequency of germline BRCA 1/2 mutations in Turkish women with epithelial ovarian cancer (EOC) and evaluate its relationship with clinicopathological characteristics.
Methods:In this cross-sectional study, all women with recently diagnosed EOC presenting to Zekai Tahir Burak Women's Health Training and Research Hospital Medical Oncology Clinic between 2016 and 2019 were referred for BRCA testing. Peripheral blood samples were obtained from 76 patients applying to Medical Genetics and BRCA1/2 genes were sequenced using next-generation sequencing. The American College of Medical Genetics and Genomics 2015 criteria were followed for classification of genetic variants.Results: Twenty-four women (31.6%) had pathogenic germline BRCA1/2 mutations. Of these, 17 patients (22.4%) harbored germline BRCA1 mutations and 7 (9.2%) had BRCA2 mutations. When we compared the patients with and without BRCA mutations, there was significant difference in terms of family history (41.7% vs 9.6%, respectively, P = .001). Among all patients, 15 (19.7%) had history of breast or ovarian cancer in first-or second-degree relatives. Germline BRCA1/2 mutations were detected in 66.7% of patients with family history, while these mutations were found in 22.9% of patients without family history (P = .001).
Conclusion:In this sample 31.6% of Turkish women with EOC harbored germline BRCA1/2 mutations, which seems higher compared to other ethnic groups except for the Ashkenazi Jews population. All women with EOC should be referred for BRCA testing regardless of family history, age at diagnosis, and histological subtype.
Breast cancer (BC) is the most common malignancy among females. 1 There are many predisposing risk factors for BC such as tumor syndromes including BRCA1/BRCA2 mutations, family history, history of atypical hyperplasia on biopsy, early menarche, etc. However, known factors account only for 45-55% of the cases. 2 The relationship between BC and systemic rheumatic diseases (SRDs) has not been clarified yet. There is a strong link between pro-inflammatory cytokines, tumor initiation, and tumor survival. 3 These autoimmune conditions have been linked to increased risk of lymphoid malignancies and some other site-specific malignancies 4 Cytokine and chemokine dysregulation is substantial in pathogenesis of both SRD and cancer. Cytokines and chemokines conduct the inflammatory process and direct angiogenesis, proliferation, apoptosis, and invasion which also take part in tumorigenesis and metastasis. 5
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