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

Identification of genetic variants for clinical management of familial colorectal tumors.

BMC medical genetics - 20 Feb 2018

Dominguez-Valentin Mev, Nakken Sigve, Tubeuf Hélène, Vodak Daniel, Ekstrøm Per Olaf, Nissen Anke M, Morak Monika, Holinski-Feder Elke, Martins Alexandra, Møller Pål, Hovig Eivind

Abstract excerpt

BACKGROUND: The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the potential contribution of genes other than MMR genes to the biological and clinical characteristics of Norwegian families fulfilling Amsterdam (AMS) criteria or revised Bethesda guidelines....

Read the complete abstract on PubMed

Topics

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

Share to Checkpoint Kinase 2
Share to Colorectal Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Mismatch Repair

Share to MAP Kinase Kinase Kinase 1

Share to Norway

Share to Receptor, Notch3

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 29458332
DOI: 10.1186/s12881-018-0533-9
PMCID: PMC5819082

Genes

CHEK2
NOTCH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of genetic variants for clinical management of familial colorectal tumors.PMID 29458332Read ↗

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.Semantic proximity Read ↗

A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?Semantic proximity Read ↗

Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.Semantic proximity Read ↗

Functional Polymorphisms in DNA Repair Genes Are Associated with Sporadic Colorectal Cancer Susceptibility and Clinical OutcomeSemantic proximity Read ↗

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.Semantic proximity Read ↗

Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.Semantic proximity Read ↗

Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.Semantic proximity Read ↗

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.Semantic proximity Read ↗

Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like SyndromeSemantic proximity Read ↗

Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.Semantic proximity Read ↗

Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.Semantic proximity Read ↗

Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.Semantic proximity Read ↗

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