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- Title
Analysing of Genotype-fenotype Correlation of Patients with Hereditary Cancer Syndrome with BRCA1 and BRCA2 Mutations.
- Authors
ACAR, Fatma Zehra; UYANIK, Bülent
- Abstract
Introduction: Approximately 10-15% of breast and ovarian cancers are caused by germline mutations in the BRCA1 or BRCA2 genes. The aim of this study was to establish a genotype-phenotype correlation for cancer patients with these mutations. Method: Fifty-five patients with hereditary cancer syndrome who applied to the medical genetics polyclinic and those with BRCA1 and BRCA2 gene mutations were included in the study. Data such as the patient's gender, type of cancer, age at diagnosis, mutation detected in which gene, and cancer history in relatives will be obtained from the family history of patients. Results: Fifty-five patients evaluated in the study, the average age at diagnosis was 46.8 years. Of the 39 breast cancer patients in the study, 13 carried the BRCA1 mutation and 26 carried the BRCA2 mutation; 10 of the 15 ovarian cancer patients carried the BRCA1 mutation and 5 carried the BRCA2 mutation. It was observed that whether the mutations seen in the patients were reported as pathogenic (27) or VUS (28) according to the literature record did not affect the age of diagnosis. When the exons were examined, most mutations were detected in exons 11 and 20. Both mutations resulted in a higher incidence of breast cancer. Three mutations were detected in different unrelated individuals. The cancer history of the patients' first, second and thirddegree relatives was questioned, and a total of 117 relatives with cancer were found to have a history of 25.6% breast cancer, 12.8% lung cancer, and 11.1% ovarian cancer. Conclusion: This study showed that the presence of a genetic mutation lowers the age of cancer diagnosis. Patients' close relatives should also be examined genetically and followed up clinically.
- Subjects
HEREDITARY cancer syndromes; BRCA genes; CANCER patients; MEDICAL genetics; GENETIC mutation; OVARIAN cancer
- Publication
Bezmialem Science, 2024, Vol 13, pS23
- ISSN
2148-2373
- Publication type
Abstract