Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations.

Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations. Abstract Text:

R C Niessen,R H Sijmons,M J W Berends,J Ou,R M W Hofstra,J H Kleibeuker,

Hereditary non-polyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome, is an autosomal dominantly inherited disorder that is characterized by susceptibility to colorectal cancer and extracolonic malignancies, in particular endometrial cancer. HNPCC is caused by pathogenic mutations in the mismatch repair (MMR) genes, which play an important role in maintaining genomic stability during DNA replication. Identification of MMR gene mutation carriers is important as this enables them to enrol in surveillance programmes, thus reducing their risk of cancer and increasing survival. Clinical criteria as well as non-clinical criteria have been formulated to select patients for mutation analysis. In this paper we review the approaches used to select patients for mutation analysis. Mutation analysis in the MMR genes may yield mutations of which the pathogenic nature is unclear. Criteria to determine the pathogenicity of such variants are discussed, as well as differences in design of functional assays to assess pathogenicity.

Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations. Publishing Authors By Initials

RC Niessen,RH Sijmons,MJ Berends,J Ou,RM Hofstra,JH Kleibeuker,

For similar animals: chordata: vertebrates: mammals: primates: haplorhini: catarrhini: hominidae: humans research abstracts see: animals: chordata: vertebrates: mammals: primates: haplorhini: catarrhini: hominidae: humans research

PUBMED ID PMID:

MEDLINE DATE:

Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations. Journal Published:

PUBLICATION TYPE: Review

Journal: Scandinavian journal of gastroenterology. Suppleme

VOLUME:

Page Numbers: 70-7

Journal Abbreviation: Scand. J. Gastroenterol. Suppl

ISSN: 0085-5928

DAY: 13

MONTH: 02

YEAR: 2004

Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations. Information

Number of References: 96

LANGUAGE: eng

NlmUniqueID: 437034

Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations. Keywords Mesh Terms:

KEYWORDS: Humans

MESH TERMS: genetics

Chemical & Substance for Abstract: Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations. Information

Substance Name: DNA-Binding Proteins

Registry Number: 0

Grant and Affiliation Information for Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations.

AFFILIATION: Dept. of Clinical Genetics, University Hospital Groningen, Groningen, The Netherlands.

Country: Norway

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Scand J Gastroenterol Suppl

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations Related Publications

• Barrett's oesophagus and carcinoma. Recent insights into its development and possible prevention.
• Clinical definition of hereditary non-polyposis colorectal cancer: a search for the impossible?
• Dyspepsia management in primary care.
• Electronic Clinical Challenges and Images in GI.
• Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations.
• Mechanism and clinical significance of metronidazole resistance in Helicobacter pylori.
• Novel approaches in the outpatient care of patients with chronic inflammatory bowel disease.