A REVIEW ON PATHOLOGICAL AND MORPHOLOGICAL DIAGNOSIS OF FAMILIAL BREAST CANCER

Approximately 5% of breast cancers are due to a heritable predisposition. This predisposition is due to one of the high risk breast cancer genes BRCA1 & BRCA2. A further proportion of cases arise as familial breast cancer, in the presence of a less striking family history. The morphological features of BRCA1&BRCA2 genes differ from each other & from sporadic breast cancers. Patients with BRCA1 mutations shows as excess of medullary a typical medullary carcinoma. However, multifactorial analysis shows that BRCA1 mutations have a high mitotic count, pushing tumour margins& lymphocytic infiltrate. But patients with BRCA2 mutations show an association with tubular /lobular carcinoma, but not sustantiable in a large Breast Cancer Linkage Consortium study. BRCA2 mutations in multifactorial analysis show pushing of tumor margins only. This recent finding of pathological aspects of BRCA1 & BRCA2 means that in addition to bilaterality & family history, a pathological element can enter into the risk calculation for the presence of BRCA1/BRCA2 mutations. This pathological & morphological analysis will facilitate the mutation testing to families with positive result & subsequently implications for clinical management of these families.