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

Deletions Account for 17% of Pathogenic Germline Alterations in <i>MLH1</i> and <i>MSH2</i> in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Families

1 Jun 2005

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is due to defects in DNA mismatch repair (MMR) genes MSH2, MLH1, MSH6, and to a lesser extent PMS2. Of 466 suspected HNPCC families, we defined 54 index patients with either tumors of high microsatellite instability (MSI-H) and/or loss of expression for either MLH1, MSH2, and/or MSH6, but without a detectable pathogenic point mutation in these genes. This study...

Read the complete abstract on PubMed

Topics

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

Share to Cancer Genomics and Diagnostics
Share to DNA Repair Mechanisms
Share to Genetic factors in colorectal cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 15943554
DOI: 10.1089/gte.2005.9.138

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Deletions Account for 17% of Pathogenic Germline Alterations in <i>MLH1</i> and <i>MSH2</i> in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) FamiliesPMID 15943554Read ↗

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes <i>MSH2</i>, <i>MLH1</i>, <i>MSH6,</i> and <i>PMS2</i> responsible for hereditary nonpolyposis colorectal cancer (HNPCC)Semantic proximity Read ↗

Germline novel<i> MSH2 </i>deletions and a founder<i> MSH2 </i>deletion associated with anticipation effects in HNPCCSemantic proximity Read ↗

Prevalence of germline mutations of <i>MLH1</i> and <i>MSH2</i> in hereditary nonpolyposis colorectal cancer families from SpainSemantic proximity Read ↗

Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes.Semantic proximity Read ↗

Spectrum and frequencies of mutations inMSH2 andMLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancerSemantic proximity Read ↗

Large genomic rearrangements and germline epimutations in Lynch syndromeSemantic proximity Read ↗

Identification and characterization of genomic rearrangements ofMSH2 andMLH1 in Lynch syndrome (HNPCC) by novel techniquesSemantic proximity Read ↗

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)Semantic proximity Read ↗

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approachSemantic proximity Read ↗

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.Semantic proximity Read ↗

Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.Semantic proximity Read ↗

Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.Semantic proximity Read ↗

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