Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

Seyed Mohammad Akrami; Malcolm G Dunlop; Susan M Farrington; Ian M Frayling; Fiona MacDonald; John F Harvey; John A L Armour

doi:10.1007/s10689-004-6131-3

Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

Seyed Mohammad Akrami, Malcolm G Dunlop, Susan M Farrington, Ian M Frayling, Fiona MacDonald, John F Harvey, John A L Armour

Research output: Contribution to journal › Article › peer-review

Abstract

Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous changes in exon copy number are not detected by conventional mutation screening methods.

Original language	English
Pages (from-to)	145-9
Number of pages	5
Journal	Familial Cancer
Volume	4
Issue number	2
DOIs	https://doi.org/10.1007/s10689-004-6131-3
Publication status	Published - 2005

Keywords

Adaptor Proteins, Signal Transducing
Carrier Proteins
Case-Control Studies
Colorectal Neoplasms, Hereditary Nonpolyposis
DNA Mutational Analysis
DNA-Binding Proteins
Exons
Frameshift Mutation
Gene Dosage
Genetic Testing
Humans
In Situ Hybridization
MutS Homolog 2 Protein
Neoplasm Proteins
Nuclear Proteins
Proto-Oncogene Proteins

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10.1007/s10689-004-6131-3

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@article{8a385485fa5c42279173a4e8086a4bf7,

title = "Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH",

abstract = "Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous changes in exon copy number are not detected by conventional mutation screening methods.",

keywords = "Adaptor Proteins, Signal Transducing, Carrier Proteins, Case-Control Studies, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mutational Analysis, DNA-Binding Proteins, Exons, Frameshift Mutation, Gene Dosage, Genetic Testing, Humans, In Situ Hybridization, MutS Homolog 2 Protein, Neoplasm Proteins, Nuclear Proteins, Proto-Oncogene Proteins",

author = "Akrami, {Seyed Mohammad} and Dunlop, {Malcolm G} and Farrington, {Susan M} and Frayling, {Ian M} and Fiona MacDonald and Harvey, {John F} and Armour, {John A L}",

year = "2005",

doi = "10.1007/s10689-004-6131-3",

language = "English",

volume = "4",

pages = "145--9",

journal = "Familial Cancer",

issn = "1389-9600",

publisher = "Springer Netherlands",

number = "2",

}

TY - JOUR

T1 - Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

AU - Akrami, Seyed Mohammad

AU - Dunlop, Malcolm G

AU - Farrington, Susan M

AU - Frayling, Ian M

AU - MacDonald, Fiona

AU - Harvey, John F

AU - Armour, John A L

PY - 2005

Y1 - 2005

N2 - Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous changes in exon copy number are not detected by conventional mutation screening methods.

AB - Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous changes in exon copy number are not detected by conventional mutation screening methods.

KW - Adaptor Proteins, Signal Transducing

KW - Carrier Proteins

KW - Case-Control Studies

KW - Colorectal Neoplasms, Hereditary Nonpolyposis

KW - DNA Mutational Analysis

KW - DNA-Binding Proteins

KW - Exons

KW - Frameshift Mutation

KW - Gene Dosage

KW - Genetic Testing

KW - Humans

KW - In Situ Hybridization

KW - MutS Homolog 2 Protein

KW - Neoplasm Proteins

KW - Nuclear Proteins

KW - Proto-Oncogene Proteins

U2 - 10.1007/s10689-004-6131-3

DO - 10.1007/s10689-004-6131-3

M3 - Article

C2 - 15951966

VL - 4

SP - 145

EP - 149

JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

IS - 2

ER -

Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

Abstract

Keywords

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