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Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations.

Scientific reports - 10 Aug 2020

Rasnic Roni, Linial Nathan, Linial Michal

Abstract excerpt

It is estimated that up to 10% of cancer incidents are attributed to inherited genetic alterations. Despite extensive research, there are still gaps in our understanding of genetic predisposition to cancer. It was theorized that ultra-rare variants partially account for the missing heritable component. We harness the UK BioBank dataset of ~ 500,000 individuals, 14% of which were diagnosed with cancer, to detect...

Topics

Databases, Genetic
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study
Genotype
Humans
Mutation
Neoplasms
Penetrance
Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32778766
DOI: 10.1038/s41598-020-70494-0
PMCID: PMC7418036

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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