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BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India
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 MB...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Breast Cancer Society
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378569/ https://www.ncbi.nlm.nih.gov/pubmed/28382101 http://dx.doi.org/10.4048/jbc.2017.20.1.104 |
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author | Venkateshwari, Ananthapur Clark, David Wayne Nallari, Pratibha Vinod, Cingeetham Kumarasamy, Thangaraj Reddy, Goverdhan Jyothy, Akka Kumar, Malladi Vijay Ramaiyer, Raghuraman Palle, Komaraiah |
author_facet | Venkateshwari, Ananthapur Clark, David Wayne Nallari, Pratibha Vinod, Cingeetham Kumarasamy, Thangaraj Reddy, Goverdhan Jyothy, Akka Kumar, Malladi Vijay Ramaiyer, Raghuraman Palle, Komaraiah |
author_sort | Venkateshwari, Ananthapur |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5378569 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Korean Breast Cancer Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-53785692017-04-05 BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India Venkateshwari, Ananthapur Clark, David Wayne Nallari, Pratibha Vinod, Cingeetham Kumarasamy, Thangaraj Reddy, Goverdhan Jyothy, Akka Kumar, Malladi Vijay Ramaiyer, Raghuraman Palle, Komaraiah J Breast Cancer Case Report 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. Korean Breast Cancer Society 2017-03 2017-03-24 /pmc/articles/PMC5378569/ /pubmed/28382101 http://dx.doi.org/10.4048/jbc.2017.20.1.104 Text en © 2017 Korean Breast Cancer Society http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Venkateshwari, Ananthapur Clark, David Wayne Nallari, Pratibha Vinod, Cingeetham Kumarasamy, Thangaraj Reddy, Goverdhan Jyothy, Akka Kumar, Malladi Vijay Ramaiyer, Raghuraman Palle, Komaraiah BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India |
title | BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India |
title_full | BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India |
title_fullStr | BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India |
title_full_unstemmed | BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India |
title_short | BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India |
title_sort | brip1/fancj mutation analysis in a family with history of male and female breast cancer in india |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378569/ https://www.ncbi.nlm.nih.gov/pubmed/28382101 http://dx.doi.org/10.4048/jbc.2017.20.1.104 |
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