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Low frequency of E-cadherin alterations in familial breast cancer

Salahshor, Sima; Lei, Haixin; Huo, Huagang; Kristensen, Vessela N; Loman, Niklas LU ; Sjöberg-Margolin, Sara; Borg, Åke LU ; Borresen-Dale, Anne-Lise; Vorechovsky, Igor and Lindblom, Annika (2001) In Breast Cancer Research 3(3). p.199-207
Abstract
In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus, were screened for germline mutations. No pathogenic germline alterations were detected in these individuals. However, a somatic mutation was found (49-2A-->C) in one of the tumours. This tumour showed a pattern of both ductal and lobular histology. Another 10 families with cases of breast, gastric and colon cancer were also screened for germline mutations, and no mutations were found. A missense mutation in exon 12 of E-cadherin (1774G-->A; Ala592Thr) was previously found in one family with diffuse gastric cancer, and colon and breast cancer. An... (More)
In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus, were screened for germline mutations. No pathogenic germline alterations were detected in these individuals. However, a somatic mutation was found (49-2A-->C) in one of the tumours. This tumour showed a pattern of both ductal and lobular histology. Another 10 families with cases of breast, gastric and colon cancer were also screened for germline mutations, and no mutations were found. A missense mutation in exon 12 of E-cadherin (1774G-->A; Ala592Thr) was previously found in one family with diffuse gastric cancer, and colon and breast cancer. An allelic association study was performed to determine whether the Ala592Thr alteration predisposes to breast cancer. In total, we studied 484 familial breast cancer patients, 614 sporadic breast cancer patients and 497 control individuals. The frequencies of this alteration were similar in these groups. However, a correlation between the Ala592Thr alteration and ductal comedo-type tumour was seen. These results, together with previously reported studies, indicate that germline mutations and, more commonly, somatic mutations in E-cadherin may have an influence on the behaviour of the tumours, rather than predispose to breast cancer. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
breast cancer, ductal comedo-type, E-cadherin, familial, lobular
in
Breast Cancer Research
volume
3
issue
3
pages
199 - 207
publisher
BioMed Central
external identifiers
  • wos:000168272500008
  • scopus:17744386128
ISSN
1465-5411
DOI
10.1186/bcr295
language
English
LU publication?
yes
id
37d2cc9c-219c-469a-8522-60ba0064af28 (old id 1119293)
date added to LUP
2008-07-14 09:09:41
date last changed
2018-01-07 05:55:37
@article{37d2cc9c-219c-469a-8522-60ba0064af28,
  abstract     = {In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus, were screened for germline mutations. No pathogenic germline alterations were detected in these individuals. However, a somatic mutation was found (49-2A-->C) in one of the tumours. This tumour showed a pattern of both ductal and lobular histology. Another 10 families with cases of breast, gastric and colon cancer were also screened for germline mutations, and no mutations were found. A missense mutation in exon 12 of E-cadherin (1774G-->A; Ala592Thr) was previously found in one family with diffuse gastric cancer, and colon and breast cancer. An allelic association study was performed to determine whether the Ala592Thr alteration predisposes to breast cancer. In total, we studied 484 familial breast cancer patients, 614 sporadic breast cancer patients and 497 control individuals. The frequencies of this alteration were similar in these groups. However, a correlation between the Ala592Thr alteration and ductal comedo-type tumour was seen. These results, together with previously reported studies, indicate that germline mutations and, more commonly, somatic mutations in E-cadherin may have an influence on the behaviour of the tumours, rather than predispose to breast cancer.},
  author       = {Salahshor, Sima and Lei, Haixin and Huo, Huagang and Kristensen, Vessela N and Loman, Niklas and Sjöberg-Margolin, Sara and Borg, Åke and Borresen-Dale, Anne-Lise and Vorechovsky, Igor and Lindblom, Annika},
  issn         = {1465-5411},
  keyword      = {breast cancer,ductal comedo-type,E-cadherin,familial,lobular},
  language     = {eng},
  number       = {3},
  pages        = {199--207},
  publisher    = {BioMed Central},
  series       = {Breast Cancer Research},
  title        = {Low frequency of E-cadherin alterations in familial breast cancer},
  url          = {http://dx.doi.org/10.1186/bcr295},
  volume       = {3},
  year         = {2001},
}