title: BRIP1/FANCJMutation Analysis in a Family with History of Male and Female Breast Cancer in India.
abstract: 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 forBRCA1/2and 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 geneBRIP1, 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 ofBRIP1mutation in MBC in the Indian population.
authors.affiliation: Department of Oncologic Sciences, Mitchell Cancer Institute, University of South Alabama, Mobile, USA.; Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.
authors.forename: Ananthapur
authors.initials: A
authors.lastname: Venkateshwari
authors.affiliation: Department of Oncologic Sciences, Mitchell Cancer Institute, University of South Alabama, Mobile, USA.
authors.forename: David Wayne
authors.initials: DW
authors.lastname: Clark
authors.affiliation: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nallari
authors.affiliation: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.
authors.forename: Cingeetham
authors.initials: C
authors.lastname: Vinod
authors.affiliation: Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Thangaraj
authors.initials: T
authors.lastname: Kumarasamy
authors.affiliation: Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Goverdhan
authors.initials: G
authors.lastname: Reddy
authors.affiliation: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.
authors.forename: Akka
authors.initials: A
authors.lastname: Jyothy
authors.affiliation: Mehdi Nawaz Jung Institute of Oncology & Regional Centre, Hyderabad, India.
authors.forename: Malladi Vijay
authors.initials: MV
authors.lastname: Kumar
authors.affiliation: Mehdi Nawaz Jung Institute of Oncology & Regional Centre, Hyderabad, India.
authors.forename: Raghuraman
authors.initials: R
authors.lastname: Ramaiyer
authors.affiliation: Department of Oncologic Sciences, Mitchell Cancer Institute, University of South Alabama, Mobile, USA.
authors.forename: Komaraiah
authors.initials: K
authors.lastname: Palle
keywords: BACH1 protein; Breast neoplasms; Mutation; Tumor suppressor gene