BRCA1/2 Mutation Analysis in Cases

Genomic DNA was extracted from the participants’ peripheral blood samples. For BRCA1/2 mutation testing in cases, 22 coding exons of BRCA1 and 26 coding exons of BRCA2 were scanned through fluorescence-based conformation sensitive gel electrophoresis (F-CSGE) and denaturing high-performance liquid chromatography (DHPLC). For a subset of PCR products with aberrant patterns, direct sequencing was performed on an ABI3100 or ABI3700 (Applied Biosystems, CA) or a MegaBACE500 (GE Healthcare, UK) genetic analyzer. In this study, the definition of a genetic mutation is restricted to the protein-truncating mutation and the missense mutation, which are known to be associated with the disease. This study also includes the participants with a clinically unverified mutation in BRCA1/2 genes. More detailed information about BRCA1/2 mutation analysis has been described before^{31 (link),37 (link)}. Since this study also includes the cases with unverified mutation on BRCA1/2, we examined whether non-pathogenic variants on these genes are more frequent in the cases compared to controls at p-value of 0.05. And we searched them at the ClinVar database.

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Lee J.Y., Kim J., Kim S.W., Park S.K., Ahn S.H., Lee M.H., Suh Y.J., Noh D.Y., Son B.H., Cho Y.U., Lee S.B., Lee J.W., Hopper J.L, & Sung J. (2018). BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts. Scientific Reports, 8, 15263.

Publication 2018

ABI3100 ABI3700 MegaBACE500

Blood Brca1 Brca1 genes Brca2 Electrophoresis Exons Fluorescence Genes variants Genetic Genomic High performance liquid chromatography Missense mutation Mutation Pathogenic Protein

Corresponding Organization :

Other organizations : Seoul National University, University of Ulsan, Asan Medical Center, Ulsan College, Seoul St. Mary's Hospital, Soonchunhyang University Hospital, St. Vincent's Hospital, Yonsei University, University of Melbourne

Top 5 similar protocols

Variable analysis

independent variables

BRCA1/2 mutation testing in cases

dependent variables

Presence of protein-truncating mutations in BRCA1/2
Presence of missense mutations in BRCA1/2
Presence of non-pathogenic variants in BRCA1/2

control variables

Participants with clinically unverified mutations in BRCA1/2 genes

positive controls

Not explicitly mentioned

negative controls

Not explicitly mentioned

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