BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India / 한국유방암학회지
Journal of Breast Cancer
;
: 104-107, 2017.
Artigo
em Inglês
| WPRIM
| ID: wpr-148350
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 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Mama
/
Neoplasias da Mama
/
DNA
/
Saúde Global
/
Genes Supressores de Tumor
/
Neoplasias da Mama Masculina
/
Mutação Silenciosa
/
Índia
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Breast Cancer
Ano de publicação:
2017
Tipo de documento:
Artigo
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