Retrospective investigation of clinical and demographic characteristics of BRCA1/BRCA2 gene mutations in patients diagnosed with breast and/or ovarian cancer in Gaziantep

A woman with a pathogenic BRCA1/BRCA2 gene mutation has a very high risk of developing breast and/or ovarian cancer throughout her life. The types of BRCA1/BRCA2 gene mutations in breast cancer and/or ovarian cancer cases are to determine their clinical and demographic characteristics. In this study, the files of 104 patients who met the criteria of BRCA1/BRCA2 gene analysis in cases diagnosed with two-center breast and/or ovarian cancer in Gaziantep were selected. Patients; age, gender, comorbidity, BRCA1/BRCA2 mutation, location of the detected mutation, name of the changed protein, cDNA change part, date of diagnosis, menopause status, family history of cancer, histopathological subtype, immunohistochemistry subtypes, estrogen receptor progesterone receptor level in a hormone receptor positive patient , KI67 index, stage at diagnosis, prophylactic mastectomy, prophylactic oophorectomy, exitus date, genetic test results were evaluated. Considering the gene locations of patients with BRCA1 and BRCA2 mutations, the most common genetic mutations are in exon 11; n=35 (31.82%) occur, with the second frequency in exon 10; It was determined that n=25 (22.73%) occurred. The most common protein change in patients with or without a genetic mutation was c.3318C>G n=6 (5.8%); The second most common protein change was c.9317G>A n=4 (3.8%). There was a significant difference in height in the postmenopausal group in terms of menopausal status at the time of diagnosis of patients with BRCA1 and BRCA2 genetic mutations (p=0.024*). When we evaluated 84 BRCA1 and BRCA2 mutant patients with cancer in terms of histological grade, a significant difference was found in terms of high grade (p=0.040*). Again, in 84 patients with BRCA1 and BRCA2 mutations in whom cancer was detected, left localization was found to be more than tumor localization (bilateral, right, left) (p=0.001*). The overall survival time of patients with breast cancer was 153 months, and the overall survival time of patients with ovarian cancer was 43 months.in favor of breast cancer was found in terms of overall survival. Relationship of mutation-positive cases with hormone receptors, age, stage, treatments received, operations, and incidence of developing the disease in the future of people with mutations when positive in their relatives, prophylactic treatments (such as mastactomy, oophorectomy), reducing morbidity and mortality, and follow-up processes will help us. Keywords: BRCA1 gene, BRCA2 gene, breast cancer, ovarian cancer