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

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

BMC medical genomics - 9 Jun 2023

Singh Ashish Kumar, Talseth-Palmer Bente, Xavier Alexandre, Scott Rodney J, Drabløs Finn, Sjursen Wenche

Abstract excerpt

BACKGROUND: Hereditary genetic mutations causing predisposition to colorectal cancer are accountable for approximately 30% of all colorectal cancer cases. However, only a small fraction of these are high penetrant mutations occurring in DNA mismatch repair genes, causing one of several types of familial colorectal cancer (CRC) syndromes. Most of the mutations are low-penetrant variants, contributing to an...

Read the complete abstract on PubMed

Topics

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

Share to Colorectal Neoplasms
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic factors in colorectal cancer

Share to Genetic Predisposition to Disease

Share to Germ Cells

Share to Germ-Line Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 37296477
DOI: 10.1186/s12920-023-01562-3
PMCID: PMC10257304

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.PMID 37296477Read ↗

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

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

Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer GenesSemantic proximity Read ↗

New insights on familial colorectal cancer type X syndrome.Semantic proximity Read ↗

Genetic predisposition to colorectal cancer: Implications for treatment and prevention.Semantic proximity Read ↗

A paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.Semantic proximity Read ↗

Identification of novel variants in colorectal cancer families by high-throughput exome sequencing.Semantic proximity Read ↗

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

Recent Discoveries in the Genetics of Familial Colorectal Cancer and Polyposis.Semantic proximity Read ↗

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

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis SyndromeSemantic proximity Read ↗

From APC to the genetics of hereditary and familial colon cancer syndromes.Semantic proximity Read ↗

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