Application of multiplex PCR with histopathologic features for detection of familial breast cancer in formalin-fixed,paraffin-embedded histological specimens

Breast cancer is the most common malignancy among females in the world. In Iran, age and family history are the major risk factors for the development of this disease. Mutations of BRCA1 and BRCA2 genes are associated with a greatly increased risk for familial breast cancer. The frequency of BRCA mutations was identified in familial breast cancers (FBCs) and nonfamilial breast cancers (NFBCs) by molecular genetics, and morphological and immunohistochemical methods. Thirty-four formalin-fixed, paraffin-embedded breast tissue tumors were analyzed from 16 patients with FBCs and 18 patients with NFBCs. Three 5382insC mutations were detected by multiplex PCR in 16 FBCs. The immunohistochemical method was used to detect estrogen receptors (ER), progesterona receptors (PR), and TP53. Comparison of ER, PR, and TP53 exhibited a high difference (P < 0.0001) in FBCs and NFBCs. Our results demonstrated that 5382insC mutation, ER, PR, TP53, mitotic activity, polymorphism, necrosis and tubules can serve as the major risk factors for FBC. The text was submitted by the authors in English.