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 and characterization of genomic rearrangements ofMSH2 andMLH1 in Lynch syndrome (HNPCC) by novel techniques

18 Aug 2003

Abstract excerpt

It has recently been suggested that large genomic rearrangements account for 10-20% of all MSH2 mutations, and a lower proportion of all MLH1 mutations, among individuals with Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC). These rearrangements are notoriously difficult to detect; moreover, for clinical purposes, simple tests must be devised to screen family members at risk. Here we used the...

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 Colorectal Cancer Treatments and Studies
Share to Genetic factors in colorectal cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 12938096
DOI: 10.1002/humu.9171

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and characterization of genomic rearrangements ofMSH2 andMLH1 in Lynch syndrome (HNPCC) by novel techniquesPMID 12938096Read ↗

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

Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.Semantic proximity Read ↗

Genomic deletions inMSH2 orMLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPASemantic proximity Read ↗

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

Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.Semantic proximity Read ↗

Identification of new genetic alterations in MLH1, MSH2 and MSH6 using IHC and HRM analysis in Lynch syndrome-suspected patientsSemantic proximity Read ↗

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 ↗

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

Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers.Semantic proximity Read ↗

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

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

Characterization of novel, large duplications in the MSH2 gene of three unrelated Lynch syndrome patients.Semantic proximity Read ↗

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