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

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

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자료유형: 학술저널

저자정보: Ananthapur Venkateshwari (University of South Alabama) David Wayne Clark (University of South Alabama) Pratibha Nallari (Osmania University) Cingeetham Vinod (Osmania University) Thangaraj Kumarasamy (Centre for Cellular and Molecular Biology) Goverdhan Reddy (Centre for Cellular and Molecular Biology) Akka Jyothy (Osmania University) Malladi Vijay Kumar (Mehdi Nawaz Jung Institute of Oncology & Regional Centre) Raghuraman Ramaiyer (Mehdi Nawaz Jung Institute of Oncology & Regional Centre) Komaraiah Palle (Department of Oncologic Sciences Mitchell Cancer Institute University of South Alabama)

저널정보: 한국유방암학회 Journal of Breast Cancer Journal of Breast Cancer Vol.20 No.1

발행연도: 2017.1

수록면: 104 - 107 (4page)

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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.

참고문헌 (15)

참고문헌 신청

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Deb S / 2012 / Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas / BMC Cancer 12:510

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