The importance of BRCA1 gene 5382insC mutation detection in an asymptomatic patient: a case report

Abstract

We report a case of a patient with the BRCA1 5382insC mutation in the location 17q21. The patient was referred for genetic counseling because of infertility. While consulting the patient for infertility and collecting the family tree, the patient told that her mother, grandmother and aunt had or still have ovarian cancer. So the patient received a genetic test for six most often BRCA1 and BRCA2 gene mutations. The test showed that the patient had the mutation of BRCA1 5382insC gene. The BRCA1 5382insC mutation increases the risk of getting breast cancer 10 times and ovarian cancer 20 times, compared with the general population. To reduce the risk of breast and ovarian cancer the patient received advices on healthy life style, screening tests for ovarian cancer and was offered to consult an oncologist about prophylactic oophorectomy.