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hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden

Planck, M LU ; Koul, A LU ; Fernebro, E LU ; Borg, A LU ; Kristoffersson, U LU ; Olsson, H LU orcid ; Wenngren, E ; Mangell, P LU and Nilbert, M LU (1999) In International Journal of Cancer 83(2). p.197-202
Abstract

We have screened 17 Southern Sweden individuals/families with suspected hereditary non-polyposis colorectal cancer (HNPCC) for mutations in the DNA-mismatch repair genes hMLH1, hMSH2 and hMSH6 using denaturing gradient gel electrophoresis, protein truncation test and direct DNA sequencing. The families were selected on the basis of a family history of HNPCC-related tumors or the occurrence of metachronous colorectal cancer/endometrial cancer at young age in an individual with a weak family history of cancer. Furthermore, we required that tumor tissue from at least one individual in the family had to display microsatellite instability. We identified germ-line mutations in 9 individuals from 8 families. Five families had mutations in... (More)

We have screened 17 Southern Sweden individuals/families with suspected hereditary non-polyposis colorectal cancer (HNPCC) for mutations in the DNA-mismatch repair genes hMLH1, hMSH2 and hMSH6 using denaturing gradient gel electrophoresis, protein truncation test and direct DNA sequencing. The families were selected on the basis of a family history of HNPCC-related tumors or the occurrence of metachronous colorectal cancer/endometrial cancer at young age in an individual with a weak family history of cancer. Furthermore, we required that tumor tissue from at least one individual in the family had to display microsatellite instability. We identified germ-line mutations in 9 individuals from 8 families. Five families had mutations in hMLH1, 4 of which were splice site mutations, 2 had frameshift mutations in hMSH2 and 1 patient with metachronous endometrial and rectal cancer but with a weak family history of cancer had a nonsense mutation in hMSH6. Our results present novel germ-line DNA-repair gene mutations, one of these in hMSH6, and demonstrate the diversified mutation spectrum in Sweden, where no founder mutation has so far been identified.

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author
; ; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Adaptor Proteins, Signal Transducing, Adult, Base Pair Mismatch, Carrier Proteins, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mutational Analysis, DNA Repair, DNA-Binding Proteins, Female, Frameshift Mutation, Genetic Testing, Germ-Line Mutation, Humans, Male, Middle Aged, MutS Homolog 2 Protein, Neoplasm Proteins, Nuclear Proteins, Proto-Oncogene Proteins, Sweden
in
International Journal of Cancer
volume
83
issue
2
pages
6 pages
publisher
John Wiley & Sons Inc.
external identifiers
  • pmid:10471527
  • scopus:0032870177
  • pmid:10471527
ISSN
0020-7136
language
English
LU publication?
yes
id
f44be10d-a333-4ee8-bd99-2b50129274c5 (old id 1114434)
alternative location
http://www3.interscience.wiley.com/cgi-bin/fulltext/66500944/PDFSTART
date added to LUP
2016-04-01 11:54:05
date last changed
2022-01-26 19:53:55
@article{f44be10d-a333-4ee8-bd99-2b50129274c5,
  abstract     = {{<p>We have screened 17 Southern Sweden individuals/families with suspected hereditary non-polyposis colorectal cancer (HNPCC) for mutations in the DNA-mismatch repair genes hMLH1, hMSH2 and hMSH6 using denaturing gradient gel electrophoresis, protein truncation test and direct DNA sequencing. The families were selected on the basis of a family history of HNPCC-related tumors or the occurrence of metachronous colorectal cancer/endometrial cancer at young age in an individual with a weak family history of cancer. Furthermore, we required that tumor tissue from at least one individual in the family had to display microsatellite instability. We identified germ-line mutations in 9 individuals from 8 families. Five families had mutations in hMLH1, 4 of which were splice site mutations, 2 had frameshift mutations in hMSH2 and 1 patient with metachronous endometrial and rectal cancer but with a weak family history of cancer had a nonsense mutation in hMSH6. Our results present novel germ-line DNA-repair gene mutations, one of these in hMSH6, and demonstrate the diversified mutation spectrum in Sweden, where no founder mutation has so far been identified.</p>}},
  author       = {{Planck, M and Koul, A and Fernebro, E and Borg, A and Kristoffersson, U and Olsson, H and Wenngren, E and Mangell, P and Nilbert, M}},
  issn         = {{0020-7136}},
  keywords     = {{Adaptor Proteins, Signal Transducing; Adult; Base Pair Mismatch; Carrier Proteins; Colorectal Neoplasms, Hereditary Nonpolyposis; DNA Mutational Analysis; DNA Repair; DNA-Binding Proteins; Female; Frameshift Mutation; Genetic Testing; Germ-Line Mutation; Humans; Male; Middle Aged; MutS Homolog 2 Protein; Neoplasm Proteins; Nuclear Proteins; Proto-Oncogene Proteins; Sweden}},
  language     = {{eng}},
  month        = {{10}},
  number       = {{2}},
  pages        = {{197--202}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{International Journal of Cancer}},
  title        = {{hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden}},
  url          = {{http://www3.interscience.wiley.com/cgi-bin/fulltext/66500944/PDFSTART}},
  volume       = {{83}},
  year         = {{1999}},
}