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
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Ovarian Neoplasms
/
Breast
/
Breast Neoplasms
/
Retrospective Studies
/
Germ-Line Mutation
/
Genes, BRCA1
/
Penetrance
/
Genes, BRCA2
/
Asian People
/
Genetic Counseling
Type of study:
Observational study
Limits:
Humans
Language:
English
Journal:
Cancer Research and Treatment
Year:
2019
Type:
Article
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