摘要：A 71-year-old patient with BRCA 1 mutation and breast cancer diagnosed in prophylactic screening. This case shows how crucial prophylactic screening is. BRCA1-positive patients, both men and women, need to be under special care, hence the diagnostic process and treatment should take place in highly specialized centers. Introduction The mutation in the BRCA 1 gene in women increases the risk of developing breast and ovarian cancer. In men, it is mainly associated with an increased risk of the fallopian tube, colon and prostate cancer. Men account for 1% of breast cancer patients, very often its occurrence is associated with a high penetration of the mutation in the BRCA 1 gene and the familial occurrence of breast cancer.[1,2] The curability of breast cancer is closely correlated to the severity of the disease at the time of detection.[3] Case report In a 71-year-old patient with BRCA 1 mutation, prophylactic screening led to the detection of the breast cancer. After the diagnosis, the patient underwent right-sided mastectomy and a diagnostic excision of the sentinel lymph node from the right axillary cavity. At three years of follow-up, the patient is considered to have no recurrence of the neoplastic disease. Discussion Current knowledge of breast cancer in men with the BRCA 1 gene mutation is limited. Usually the disease is detected at a late stage, which results in a small chance of curing the disease. Prophylactic treatment in such patients should include systematic control in Oncological Out-patient departments, by breast imaging in ultrasonography and mammography. A prophylactic mastectomy could be seen as a controversial preventive method that reduces the risk of breast cancer in men with a BRCA 1 gene mutation. It is a method that involves significant mutilation and the indications for its use require further research.
关键词：A 71-year-old patient with BRCA 1 mutation and breast cancer diagnosed in prophylactic screening. This case shows how crucial prophylactic screening is. BRCA1-positive patients, both men and women, need to be under special care, hence the diagnostic process and treatment should take place in highly specialized centers. Introduction The mutation in the BRCA 1 gene in women increases the risk of developing breast and ovarian cancer. In men, it is mainly associated with an increased risk of the fallopian tube, colon and prostate cancer. Men account for 1% of breast cancer patients, very often its occurrence is associated with a high penetration of the mutation in the BRCA 1 gene and the familial occurrence of breast cancer.[1,2] The curability of breast cancer is closely correlated to the severity of the disease at the time of detection.[3] Case report In a 71-year-old patient with BRCA 1 mutation, prophylactic screening led to the detection of the breast cancer. After the diagnosis, the patient underwent right-sided mastectomy and a diagnostic excision of the sentinel lymph node from the right axillary cavity. At three years of follow-up, the patient is considered to have no recurrence of the neoplastic disease. Discussion Current knowledge of breast cancer in men with the BRCA 1 gene mutation is limited. Usually the disease is detected at a late stage, which results in a small chance of curing the disease. Prophylactic treatment in such patients should include systematic control in Oncological Out-patient departments, by breast imaging in ultrasonography and mammography. A prophylactic mastectomy could be seen as a controversial preventive method that reduces the risk of breast cancer in men with a BRCA 1 gene mutation. It is a method that involves significant mutilation and the indications for its use require further research.
