The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Lise Lotte Christensen; Bo E Madsen; Friedrik P Wikman; Carsten Wiuf; Karen Koed; Anne Tjønneland; Anja Viendahl Olsen; Ann-Christine Syvänen; Claus L Andersen; Torben F Orntoft

doi:10.1186/1471-2350-9-52

The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Lise Lotte Christensen, Bo E Madsen, Friedrik P Wikman, Carsten Wiuf, Karen Koed, Anne Tjønneland, Anja Viendahl Olsen, Ann-Christine Syvänen, Claus L Andersen, Torben F Orntoft

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

16 Citations (Scopus)

Abstract

Mutations in the mismatch repair genes hMLH1 and hMSH2 predispose to hereditary non-polyposis colorectal cancer (HNPCC). Genetic screening of more than 350 Danish patients with colorectal cancer (CRC) has led to the identification of several new genetic variants (e.g. missense, silent and non-coding) in hMLH1 and hMSH2. The aim of the present study was to investigate the frequency of these variants in hMLH1 and hMSH2 in Danish patients with sporadic colorectal cancer and in the healthy background population. The purpose was to reveal if any of the common variants lead to increased susceptibility to colorectal cancer.

Original language	English
Journal	B M C Medical Genetics
Volume	9
Pages (from-to)	52
ISSN	1471-2350
DOIs	https://doi.org/10.1186/1471-2350-9-52
Publication status	Published - 1 Jan 2008

Keywords

Adaptor Proteins, Signal Transducing
Cohort Studies
Colorectal Neoplasms
Colorectal Neoplasms, Hereditary Nonpolyposis
Denmark
Female
Gene Frequency
Genetic Variation
Genotype
Humans
Linkage Disequilibrium
Male
Middle Aged
MutS Homolog 2 Protein
Mutation, Missense
Nuclear Proteins
Oligonucleotide Array Sequence Analysis
Polymerase Chain Reaction

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10.1186/1471-2350-9-52

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title = "The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population",

abstract = "Mutations in the mismatch repair genes hMLH1 and hMSH2 predispose to hereditary non-polyposis colorectal cancer (HNPCC). Genetic screening of more than 350 Danish patients with colorectal cancer (CRC) has led to the identification of several new genetic variants (e.g. missense, silent and non-coding) in hMLH1 and hMSH2. The aim of the present study was to investigate the frequency of these variants in hMLH1 and hMSH2 in Danish patients with sporadic colorectal cancer and in the healthy background population. The purpose was to reveal if any of the common variants lead to increased susceptibility to colorectal cancer.",

keywords = "Adaptor Proteins, Signal Transducing, Cohort Studies, Colorectal Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, Denmark, Female, Gene Frequency, Genetic Variation, Genotype, Humans, Linkage Disequilibrium, Male, Middle Aged, MutS Homolog 2 Protein, Mutation, Missense, Nuclear Proteins, Oligonucleotide Array Sequence Analysis, Polymerase Chain Reaction",

author = "Christensen, {Lise Lotte} and Madsen, {Bo E} and Wikman, {Friedrik P} and Carsten Wiuf and Karen Koed and Anne Tj{\o}nneland and Olsen, {Anja Viendahl} and Ann-Christine Syv{\"a}nen and Andersen, {Claus L} and Orntoft, {Torben F}",

year = "2008",

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day = "1",

doi = "10.1186/1471-2350-9-52",

language = "English",

volume = "9",

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journal = "B M C Medical Genetics",

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The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. / Christensen, Lise Lotte; Madsen, Bo E; Wikman, Friedrik P et al.
In: B M C Medical Genetics, Vol. 9, 01.01.2008, p. 52.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

AU - Christensen, Lise Lotte

AU - Madsen, Bo E

AU - Wikman, Friedrik P

AU - Wiuf, Carsten

AU - Koed, Karen

AU - Tjønneland, Anne

AU - Olsen, Anja Viendahl

AU - Syvänen, Ann-Christine

AU - Andersen, Claus L

AU - Orntoft, Torben F

PY - 2008/1/1

Y1 - 2008/1/1

N2 - Mutations in the mismatch repair genes hMLH1 and hMSH2 predispose to hereditary non-polyposis colorectal cancer (HNPCC). Genetic screening of more than 350 Danish patients with colorectal cancer (CRC) has led to the identification of several new genetic variants (e.g. missense, silent and non-coding) in hMLH1 and hMSH2. The aim of the present study was to investigate the frequency of these variants in hMLH1 and hMSH2 in Danish patients with sporadic colorectal cancer and in the healthy background population. The purpose was to reveal if any of the common variants lead to increased susceptibility to colorectal cancer.

AB - Mutations in the mismatch repair genes hMLH1 and hMSH2 predispose to hereditary non-polyposis colorectal cancer (HNPCC). Genetic screening of more than 350 Danish patients with colorectal cancer (CRC) has led to the identification of several new genetic variants (e.g. missense, silent and non-coding) in hMLH1 and hMSH2. The aim of the present study was to investigate the frequency of these variants in hMLH1 and hMSH2 in Danish patients with sporadic colorectal cancer and in the healthy background population. The purpose was to reveal if any of the common variants lead to increased susceptibility to colorectal cancer.

KW - Adaptor Proteins, Signal Transducing

KW - Cohort Studies

KW - Colorectal Neoplasms

KW - Colorectal Neoplasms, Hereditary Nonpolyposis

KW - Denmark

KW - Female

KW - Gene Frequency

KW - Genetic Variation

KW - Genotype

KW - Humans

KW - Linkage Disequilibrium

KW - Male

KW - Middle Aged

KW - MutS Homolog 2 Protein

KW - Mutation, Missense

KW - Nuclear Proteins

KW - Oligonucleotide Array Sequence Analysis

KW - Polymerase Chain Reaction

U2 - 10.1186/1471-2350-9-52

DO - 10.1186/1471-2350-9-52

M3 - Journal article

C2 - 18547406

SN - 1471-2350

VL - 9

SP - 52

JO - B M C Medical Genetics

JF - B M C Medical Genetics

ER -

The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Abstract

Keywords

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