Article

Systematic analysis of disease-linked rare germline variants reveals new classes of cancer predisposing genes

2023-02-15

Abstract excerpt

Despite recent insights into cancer predisposition genes (CPGs), the contribution of rare germline variants to carcinogenesis remains unclear. Here, we examine the enrichment of rare germline variants in Mendelian disease-associated genes using PCAWG and the 1,000 Genomes Project. Using an integrative approach that considers disease classes, cellular pathways, and tissue expression profiles, we find that subsets o...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b61940be-1e45-5c18-9734-8899ebf99b0b
DOI: 10.1101/2023.02.15.528610

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Systematic analysis of disease-linked rare germline variants reveals new classes of cancer predisposing genesDOI 10.1101/2023.02.15.528610Read

Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes.Semantic proximity Read

Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variationsSemantic proximity Read

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

Ancestry-specific predisposing germline variants in cancer.Semantic proximity Read

Ancestry-Specific Predisposing Germline Variants in CancerSemantic proximity Read

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genesSemantic proximity Read

Gene-Specific Cancer Patterns Among Pathogenic Germline Variant CarriersSemantic proximity Read

Germline genomic patterns are associated with cancer risk, oncogenic pathways, and clinical outcomes.Semantic proximity Read

Genome-wide analysis of genetic predisposition to common polygenic cancers.Semantic proximity Read

Association Study of Over 200,000 Subjects Detects Novel Rare Variants, Functional Elements, and Polygenic Architecture of Prostate Cancer SusceptibilitySemantic proximity Read

Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.Semantic proximity Read

Systematic discovery of germline cancer predisposition genes through the identification of somatic second hits.Semantic proximity Read