Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Human molecular genetics - 25 Aug 2022

Yngvadottir Bryndis, Andreou Avgi, Bassaganyas Laia, Larionov Alexey, Cornish Alex J, Chubb Daniel, Saunders Charlie N, Smith Philip S, Zhang Huairen, Cole Yasemin, Research Consortium Genomics England, Larkin James, Browning Lisa, Turajlic Samra, Litchfield Kevin, Houlston Richard S, Maher Eamonn R

Abstract excerpt

Renal cell carcinoma (RCC) occurs in a number of cancer predisposition syndromes, but the genetic architecture of susceptibility to RCC is not well defined. We investigated the frequency of pathogenic and likely pathogenic (P/LP) germline variants in cancer susceptibility genes (CSGs) within a large series of unselected RCC participants. Whole-genome sequencing data on 1336 RCC participants and 5834 controls...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carcinoma, Renal Cell
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ Cells

Share to Germ-Line Mutation

Share to Kidney Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 35441217
DOI: 10.1093/hmg/ddac089
PMCID: PMC9433729

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.PMID 35441217Read ↗

Trans-ethnic variation in germline variants of patients with renal cell carcinoma.Semantic proximity Read ↗

Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneitySemantic proximity Read ↗

Germline Susceptibility to Renal Cell Carcinoma and Implications for Genetic Screening.Semantic proximity Read ↗

Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell CarcinomaSemantic proximity Read ↗

Pathogenicity evaluation of coding germline variants identifies rare alleles enriched in hematological patients of a founder populationSemantic proximity Read ↗

Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer.Semantic proximity Read ↗

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.Semantic proximity Read ↗

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell CarcinomaSemantic proximity Read ↗

Monogenic and Polygenic Risk for Kidney Cancer in Two Large Biobanks.Semantic proximity Read ↗

Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.Semantic proximity Read ↗

Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencingSemantic proximity Read ↗

Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.