Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review / Journal of the Korean Cancer Association, 대한암학회지
Cancer Research and Treatment
;
: 941-950, 2019.
Artigo
em Inglês
| WPRIM
| ID: wpr-763185
ABSTRACT
PURPOSE:
We investigated the clinical relevance and spectrum of BRCA1/2 mutations in Korean ovarian cancer (KoOC) patients. MATERIALS ANDMETHODS:
Two hundred seventy-nine KoOC patients were enrolled from three university hospitals between 2012 and 2017. Their peripheral blood samples were obtained for BRCA1/2 mutation analysis by direct sequencing. Clinicopathological characteristics were retrospectively reviewed, and spectrum analyses of BRCA1/2 mutation were assessed by systematic literature review.RESULTS:
Frequency of BRCA1/2 mutations was 16.5% in KoOC patients. BRCA1/2 mutations were significantly associated with family history of breast/ovarian cancer (pT of BRCA2 in KoBC).CONCLUSION:
The clinical relevance of BRCA1/2 mutations in KoOC patients was confirmed but that of early age-of-onset was not. Possible inconsistency in the ratio of BRCA1-to-BRCA2 mutations and the most common mutation between KoOC and KoBC may probably suggest presence of mutation sequence-associated penetrance tendency in hereditary Korean breast and ovarian cancer. These data may provide insights for optimal genetic counseling and prophylactic treatment for at-risk relatives of KoOC patients.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Neoplasias Ovarianas
/
Mama
/
Neoplasias da Mama
/
Estudos Retrospectivos
/
Mutação em Linhagem Germinativa
/
Genes BRCA1
/
Penetrância
/
Genes BRCA2
/
Povo Asiático
/
Aconselhamento Genético
Tipo de estudo:
Estudo observacional
Limite:
Humanos
Idioma:
Inglês
Revista:
Cancer Research and Treatment
Ano de publicação:
2019
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS