BRCA
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Entries
BBJ — Whole-exome sequencing & rare variant analysis
PUBMED_LINK
STAGE_PERIOD
2020–2022
DESCRIPTION
Whole-exome sequencing of BBJ participants enabling rare variant association studies. Demonstrated expanded cancer risk profiles for BRCA1/BRCA2 pathogenic variants in the Japanese population, revealing population-specific pathogenic variant frequencies.
URL
TITLE
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants