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Article

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 10 Feb 2015

Chubb Daniel, Broderick Peter, Frampton Matthew, Kinnersley Ben, Sherborne Amy, Penegar Steven, Lloyd Amy, Ma Yussanne P, Dobbins Sara E, Houlston Richard S

Abstract excerpt

PURPOSE: Knowledge of the contribution of high-penetrance susceptibility to familial colorectal cancer (CRC) is relevant to the counseling, treatment, and surveillance of CRC patients and families. PATIENTS AND METHODS: To quantify the impact of germline mutation to familial CRC, we sequenced the...

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Source

Identifiers

PMID: 25559809
DOI: 10.1200/JCO.2014.56.5689

Genes

POLD1
POLE
APC
MUTYH
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25559809-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.PMID 25559809Read ↗

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.Semantic proximity Read ↗

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.Semantic proximity Read ↗

Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.Semantic proximity Read ↗

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.Semantic proximity Read ↗

Survey of germline variants in cancer‐associated genes in young adults with colorectal cancerSemantic proximity Read ↗

Clinicopathological and mutational analyses of colorectal cancer with mutations in the POLE geneSemantic proximity Read ↗

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.Semantic proximity Read ↗

Inherited predisposition to colorectal cancer: towards a more complete picture.Semantic proximity Read ↗

Co-occurring mutations in the POLE exonuclease and non-exonuclease domains define a unique subset of highly mutagenic tumorsSemantic proximity Read ↗

Germline RAD54L with somatic POLE defect implicated in Hypermutation phenotype: case report.Semantic proximity Read ↗

Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype.Semantic proximity Read ↗

Role of POLE and POLD1 in familial cancer.Semantic proximity Read ↗

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