Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1 / 한국유방암학회지
Journal of Breast Cancer
;
: 97-100, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-173787
ABSTRACT
Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it has been associated with an increased risk of breast cancer. Herein we describe a family with two women affected by both NF1 and early-onset breast cancer. We evaluated whether the concomitance of NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Korean family with clinical features of both NF1 and hereditary breast cancer. Mutation analyses identified nonsense mutations in NF1 and BRCA1 genes. Our findings indicate that an awareness of the possible concomitance of NF1 and BRCA1 gene mutations is important for identifying the genetic origin of early-onset breast cancer in patients with NF1 to achieve early detection of cancers and decrease breast cancer-associated morbidity and mortality in these patients.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Mama
/
Neoplasias da Mama
/
Mortalidade
/
Genes da Neurofibromatose 1
/
Neurofibromatose 1
/
Mutação em Linhagem Germinativa
/
Códon sem Sentido
/
Genes BRCA1
/
Neurofibromina 1
Tipo de estudo:
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Breast Cancer
Ano de publicação:
2015
Tipo de documento:
Artigo
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