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Gene-Specific Cancer Patterns in Pathogenic Germline Variant Carriers

2026-01-30 oncology Title + abstract only
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BackgroundWe previously reported that >5% of the population carries pathogenic or likely pathogenic variants (P/LPVs) in key cancer susceptibility genes. However, gene-specific cancer prevalence, spectrum, burden, lifetime risk, comorbidity, and the risk associated with autosomal recessive (AR) genes among carriers remain incompletely defined. MethodsWe analyzed 72 cancer susceptibility genes in the All of Us dataset (N=633,547), including 287,076 participants with both genomic and electronic h...

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