טכניון מכון טכנולוגי לישראל
הטכניון מכון טכנולוגי לישראל - בית הספר ללימודי מוסמכים  
M.Sc Thesis
M.Sc StudentChernin Rina
SubjectClinical and Genetic Characteristics in Males with
Breast Cancer
DepartmentDepartment of Medicine
Supervisor Clinical Professor Ruth Gershoni-Baruch


Abstract

Male breast cancer (BC) comprises 1% of all BC cases. In Ashkenazi Jews hereditary breast/ovarian cancer is mainly attributed to three founder mutations: 185delAG, 5382insC, and 6174delT, in BRCA1/2 genes. Among males, mutations in BRCA2 constitute the major cause of inherited BC.

Study objectives were: 1) To demographically and clinically characterize male BC patients of Ashkenazi descent. 2) To estimate the frequency of founder BRCA1/2 mutations among male BC patients of Ashkenazi origin 3) To seek for associations between carrier state and clinical characteristics of the disease 4) To explore relationships between carrier state and family cancer morbidity.

            One hundred twenty one Ashkenazi male BC patients were defined clinically, demographically and by family history status, and 38 underwent genetic testing. Five carriers (13%) were identified (4 carried BRCA2 6174delT mutation). These were characterized by earlier age of onset. Negative family history was reported by two 6174delT mutation carriers. This argues in favor of genetic counseling and genetic testing to all male BC patients. No firm clinical differences between carriers and non-carriers were detected. Patients with positive family history of cancer were younger at diagnosis compared to patients without family history of cancer. No other clinical differences between patients with positive and negative family history were observed.

            Mean age at diagnosis was 67 years. Thirty percent of patients were diagnosed with disease stage I and 50% with disease stage II. Twenty percent of tumors were classified as grade 1 and the majority tested positive for hormone receptors. Invasive ductal carcinoma was the principal histologic type.

Our group of male BC patients with variable genetic and family history data presented as a clinically homogeneous group.