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

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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

Harvard

Petersen, SM, Dandanell, M, Rasmussen, LJ, Gerdes, A-M, Krogh, LN, Bernstein, I, Okkels, H, Wikman, F, Nielsen, FC & Hansen, TVO 2013, 'Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients', BMC Medical Genetics, vol. 14, pp. 103. https://doi.org/10.1186/1471-2350-14-103

APA

Petersen, S. M., Dandanell, M., Rasmussen, L. J., Gerdes, A-M., Krogh, L. N., Bernstein, I., Okkels, H., Wikman, F., Nielsen, F. C., & Hansen, T. V. O. (2013). Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients. BMC Medical Genetics, 14, 103. https://doi.org/10.1186/1471-2350-14-103

Vancouver

Petersen SM, Dandanell M, Rasmussen LJ, Gerdes A-M, Krogh LN, Bernstein I et al. Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients. BMC Medical Genetics. 2013;14:103. https://doi.org/10.1186/1471-2350-14-103

Author

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. / Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients. In: BMC Medical Genetics. 2013 ; Vol. 14. pp. 103.

Bibtex

@article{62eb1a58038440aaa07c92d484794383,
title = "Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients",
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.",
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",
author = "Petersen, {Sanne M} and Mette Dandanell and Rasmussen, {Lene J} and Anne-Marie Gerdes and Krogh, {Lotte Nylandsted} and Inge Bernstein and Henrik Okkels and Friedrik Wikman and Nielsen, {Finn C} and Hansen, {Thomas V O}",
year = "2013",
doi = "10.1186/1471-2350-14-103",
language = "English",
volume = "14",
pages = "103",
journal = "B M C Medical Genetics",
issn = "1471-2350",
publisher = "BioMed Central Ltd.",

}

RIS

TY - JOUR

T1 - Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

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

PY - 2013

Y1 - 2013

N2 - 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.

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

U2 - 10.1186/1471-2350-14-103

DO - 10.1186/1471-2350-14-103

M3 - Journal article

C2 - 24090359

VL - 14

SP - 103

JO - B M C Medical Genetics

JF - B M C Medical Genetics

SN - 1471-2350

ER -

ID: 96632074