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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome medicine - 9 Sept 2021

Wang Zishan, Fan Xiao, Shen Yufeng, Pagadala Meghana S, Signer Rebecca, Cygan Kamil J, Fairbrother William G, Carter Hannah, Chung Wendy K, Huang Kuan-Lin

Abstract excerpt

BACKGROUND: DNA sequencing is increasingly incorporated into the routine care of cancer patients, many of whom also carry inherited, moderate/high-penetrance variants associated with other diseases. Yet, the prevalence and consequence of such variants remain unclear. METHODS: We analyzed the germline genomes of 10,389 adult cancer cases in the TCGA cohort, identifying pathogenic/likely pathogenic variants in...

Topics

Humans
Alleles
Gene Expression Regulation, Neoplastic
Genomics
Germ Cells
Heterozygote
Inheritance Patterns
Neoplasms
Risk Assessment
Sequence Analysis, DNA

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Identifiers

PMID: 34503567
DOI: 10.1186/s13073-021-00964-1
PMCID: PMC8431938

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