Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Sanne M Petersen; Mette Dandanell; Lene J Rasmussen; Anne-Marie Gerdes; Lotte Nylandsted Krogh; Inge Bernstein; Henrik Okkels; Friedrik Wikman; Finn C Nielsen; Thomas V O Hansen

doi:10.1186/1471-2350-14-103

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Sanne M Petersen, Mette Dandanell, Lene J Rasmussen, Anne-Marie Gerdes, Lotte Nylandsted Krogh, Inge Bernstein, Henrik Okkels, Friedrik Wikman, Finn C Nielsen, Thomas V O Hansen

Research output: Contribution to journal › Journal article › Research › peer-review

19 Citations (Scopus)

Abstract

Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomic rearrangements. However, a large number of mutations, including missense, silent, and intronic variants, are classified as variants of unknown clinical significance.

Original language	English
Journal	BMC Medical Genetics
Volume	14
Pages (from-to)	103
ISSN	1471-2350
DOIs	https://doi.org/10.1186/1471-2350-14-103
Publication status	Published - 2013

Keywords

Adaptor Proteins, Signal Transducing
Colorectal Neoplasms
DNA-Binding Proteins
Denmark
European Continental Ancestry Group
Genetic Counseling
Humans
Introns
MutS Homolog 2 Protein
Mutation
Nuclear Proteins
RNA Splice Sites

Access to Document

10.1186/1471-2350-14-103

http://www.biomedcentral.com/1471-2350/14/103

Cite this

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients. / Petersen, Sanne M; Dandanell, Mette; Rasmussen, Lene J ; Gerdes, Anne-Marie; Krogh, Lotte Nylandsted; Bernstein, Inge; Okkels, Henrik; Wikman, Friedrik; Nielsen, Finn C ; Hansen, Thomas V O.

In: BMC Medical Genetics, Vol. 14, 2013, p. 103.

Research output: Contribution to journal › Journal article › Research › peer-review

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abstract = "Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomic rearrangements. However, a large number of mutations, including missense, silent, and intronic variants, are classified as variants of unknown clinical significance.",

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AU - Petersen, Sanne M

AU - Dandanell, Mette

AU - Rasmussen, Lene J

AU - Gerdes, Anne-Marie

AU - Krogh, Lotte Nylandsted

AU - Bernstein, Inge

AU - Okkels, Henrik

AU - Wikman, Friedrik

AU - Nielsen, Finn C

AU - Hansen, Thomas V O

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AB - Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomic rearrangements. However, a large number of mutations, including missense, silent, and intronic variants, are classified as variants of unknown clinical significance.

KW - Adaptor Proteins, Signal Transducing

KW - Colorectal Neoplasms

KW - DNA-Binding Proteins

KW - Denmark

KW - European Continental Ancestry Group

KW - Genetic Counseling

KW - Humans

KW - Introns

KW - MutS Homolog 2 Protein

KW - Mutation

KW - Nuclear Proteins

KW - RNA Splice Sites

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DO - 10.1186/1471-2350-14-103

M3 - Journal article

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VL - 14

SP - 103

JO - B M C Medical Genetics

JF - B M C Medical Genetics

SN - 1471-2350

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