BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India

作者：Venkateshwari Ananthapur; Clark David Wayne; Nallari Pratibha; Vinod Cingeetham; Kumarasamy Thangaraj; Reddy Goverdhan; Jyothy Akka; Kumar Malladi Vijay; Ramaiyer Raghuraman; Palle Komaraiah^*

来源：Journal of Breast Cancer, 2017, 20(1): 104-107.

DOI：10.4048/jbc.2017.20.1.104

• BACH1 protein
• Breast neoplasms
• Mutation
• Tumor suppressor gene

Male breast cancer (MBC) is a rare and poorly studied disease that is a growing global health problem. Interestingly, both the molecular basis of MBC and its histological profile are often quite distinct from the far more prevalent female breast cancer, emphasizing the need for increased focus on MBC. Here, we present a case report of an MBC patient from India with a strong familial history of breast cancer. This patient was normal for BRCA1/2 and many other common breast cancer-associated genes. However, upon further analysis, the individual was found to possess two mutations in the DNA helicase and tumor suppressor gene BRIP1, including a silent mutation at residue 879 as well as a P919S variant. Other family members were also screened for these mutations. To the best of our knowledge, this is the first report of BRIP1 mutation in MBC in the Indian population.

• 出版日期2017-3