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

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

American journal of human genetics - 1 Jan 2002

Berends Maran J W, Wu Ying, Sijmons Rolf H, Mensink Rob G J, van der Sluis Tineke, Hordijk-Hos Jannet M, de Vries Elisabeth G E, Hollema Harry, Karrenbeld Arend, Buys Charles H C M, van der Zee Ate G J, Hofstra Robert M W, Kleibeuker Jan H

Abstract excerpt

The MSH6 gene is one of the mismatch-repair genes involved in hereditary nonpolyposis colorectal cancer (HNPCC). Three hundred sixteen individuals who were known or suspected to have HNPCC were analyzed for MSH6 germline mutations. For 25 index patients and 8 relatives with MSH6 variants, molecular and clinical features are described. For analysis of microsatellite instability (MSI), the five consensus markers...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endometrial Neoplasms

Share to Germ-Line Mutation

Share to MutL Protein Homolog 1

Share to MutS Homolog 2 Protein

Share to Neoplasm Proteins

Share to Proto-Oncogene Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 11709755
DOI: 10.1086/337944
PMCID: PMC384896

Genes

MSH6
MLH1
MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.PMID 11709755Read ↗

A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.Semantic proximity Read ↗

Meta-analysis of MSH6 gene mutation frequency in colorectal and endometrial cancers.Semantic proximity Read ↗

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.Semantic proximity Read ↗

Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.Semantic proximity Read ↗

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.Semantic proximity Read ↗

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

Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer.Semantic proximity Read ↗

MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry.Semantic proximity Read ↗

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.Semantic proximity Read ↗

Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant CarriersSemantic proximity Read ↗

Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?Semantic proximity Read ↗

MSH6 and MUTYH Deficiency Is a Frequent Event in Early-Onset Colorectal CancerSemantic proximity Read ↗

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