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

Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations.

International journal of colorectal disease - 1 Nov 2000

Pistorius S R, Kruppa C, Haas S, Plaschke J, Kruger S, Bulitta C J, Nagel M, Saeger H D, Schackert H K

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC), clinically defined by the Amsterdam criteria, is associated with mismatch repair gene germline mutations. This study was performed to evaluate the efficiency of combined clinical and molecular diagnostics in identifying carriers of a mutated gene in families meeting criteria of the Bethesda guidelines and to examine the influence of molecular diagnosis on...

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 Family Health

Share to Germ-Line Mutation

Share to MutL Protein Homolog 1

Share to MutS Homolog 2 Protein

Share to Neoplasm Proteins

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 11151427
DOI: 10.1007/s003840000261

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations.PMID 11151427Read ↗

Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based Approach<i>Versus</i>Molecular ScreeningSemantic proximity Read ↗

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

Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.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 ↗

Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.Semantic proximity Read ↗

Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancerSemantic proximity Read ↗

Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history.Semantic proximity Read ↗

Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer.Semantic proximity Read ↗

Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.Semantic proximity Read ↗

Analysis of mismatch repair gene mutations in Turkish HNPCC patients.Semantic proximity Read ↗

Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1.Semantic proximity Read ↗

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

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