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.
Article
en En
| WPRIM
| ID: wpr-763185
Biblioteca responsable:
WPRO
ABSTRACT
PURPOSE: We investigated the clinical relevance and spectrum of BRCA1/2 mutations in Korean ovarian cancer (KoOC) patients. MATERIALS AND METHODS: 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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Neoplasias Ováricas
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Mama
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Neoplasias de la Mama
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Estudios Retrospectivos
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Mutación de Línea Germinal
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Genes BRCA1
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Penetrancia
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Genes BRCA2
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Pueblo Asiatico
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Asesoramiento Genético
Tipo de estudio:
Observational_studies
Límite:
Humans
Idioma:
En
Revista:
Cancer Research and Treatment
Año:
2019
Tipo del documento:
Article