Investigation of Mitochondrial Common Deletion and BRCA Mutations for Detection of Familial Breast Cancers in Archival Breast Cancer Materials

Bachground and Aim: Mutation analysis of mitochondrial genome and BRCA genes are helpful in the early diagnosis of familial breast cancers. In this study, we investigated mitochondrial common deletion and BRCA mutations through multiplex PCR and clinical parameters for the detection of familial breast cancers in archival breast cancer samples. Methods: The multiplex PCR was conducted on DNA from 34 archive breast tissue samples and 13 blood samples. Results: Five mtDNA4977 deletions and three 5382insC mutations were detected from familial breast cancers. The mtDNA4977 deletion was highly prevalent in peripheral blood but it was absent in the breast tissue of the cancer cases. On the other hand, familial breast cancer tumors exhibited different clinical parameters such as higher mitotic activity, higher polymorphism, lower necrosis, lower tubules, higher ER- and PR-negatives and lower TP53-positives compared to the non-familial cancers. Conclusion: Our results demonstrated that the testing of mtDNA4977 deletion and 5382insC mutation in combination with clinical parameters can serve as major risk factors in the identification of familial breast cancers.