SPECTRUM OF GERMLINE CANCER SUSCEPTIBILITY GENE MUTATIONS IN BREAST AND OVARIAN CANCER PATIENTS IN THE BLACK SEA REGION OF TURKEY: SINGLE CENTER EXPERIENCE
نویسندگان
چکیده
Introduction: Breast cancer consists huge amount of the cancerrelated death in population. Ovarian is second most frequent seen type gynecological and has highest mortality among cancers since cases are detected late. The current study intended to determine prevalence oncogene mutations, especially BRCA1 BRCA2, high-risk patients diagnosed with ovarian breast Black Sea region our country. Material method: Between August 2017 January 2022, a total 223 individuals who applied center met genetic test criteria were included study. Next-generation sequencing (NGS) was used detect germ-line deleterious variants genes oncogenetic panel (34 genes). Results: Among analyzed within scope study, 195 had cancer, 28 resulting detection 15 different pathogenic (%4,9) BRCA2 (%6,7) 26 (11.6%) patients. In analysis 32 oncogenes other than genes, (P) or likely (LP) 35 (15.7%). Based on breast/ together, 41 found 61 (27.3%). Furthermore, 65 VUSs (Variant Uncertain Significance) 73 (32.7%). Conclusion: This first be conducted single located region. and, knowledge, provides data this terms BRCAs. To appreciate susceptibility spectrum hereditary and/or better, it imperative clarify risks associated BRCAs, which carry high risk for cancers, as well BRCA2. Therefore, group must undergo multigene testing addition routine gene testing. We two novel five BRCA oncogenes. results contributed development country's specific variant pool.
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ژورنال
عنوان ژورنال: Eskisehir Medical Journal Eskisehir City Hospital
سال: 2023
ISSN: ['2718-0948']
DOI: https://doi.org/10.48176/esmj.2023.102