Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer / Journal of the Korean Cancer Association, 대한암학회지
Cancer Research and Treatment
;
: 955-961, 2016.
Article
in English
| WPRIM
| ID: wpr-61889
ABSTRACT
PURPOSE:
The aim of the current study is to assess the spectrum of genetic variation in the BRIP1 gene among Korean high-risk breast cancer patients who tested negative for the BRCA1/2 mutation. MATERIALS ANDMETHODS:
Overall, 235 Korean patientswith BRCA1/2 mutation-negative high-risk breast cancerwere screened for BRIP1 mutations. The entire BRIP1 gene was analyzed using fluorescent-conformation sensitive gel electrophoresis. In silico analysis of BRIP1 variants was performed using PolyPhen-2 and SIFT.RESULTS:
A total of 20 sequence alterations including 12 exonic and eight intronic variantswere found. Among the 12 exonic variants, 10 were missense and two were silent mutations. No protein-truncating mutation was found among the tested patients. Among the 10 missense variants, four (p.L263F, p.L340F, p.L474P, and p.R848H) were predicted to be pathogenic by both PolyPhen-2 and SIFT, and these variants were found in five patients. Of the four missense variants, p.L263F, p.L474P, and p.R848H localize to regions between the helicase motifs, while p.L340F resides in an iron-sulfur domain of BRIP1.CONCLUSION:
No protein-truncating mutation in BRIP1 was found among the tested patients. The contribution of BRIP1 variants is thought to be minor in Korean non-BRCA1/2 high-risk breast cancer.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Genetic Variation
/
Computer Simulation
/
Breast
/
Breast Neoplasms
/
Introns
/
Exons
/
Electrophoresis
/
Hereditary Breast and Ovarian Cancer Syndrome
/
Silent Mutation
/
Korea
Type of study:
Etiology study
/
Prognostic study
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Cancer Research and Treatment
Year:
2016
Type:
Article
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