Low frequency of E-cadherin alterations in familial breast cancer
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1119293
- author
- 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
- organization
- publishing date
- 2001
- 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 (BMC)
- 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
- 2016-04-01 12:12:46
- date last changed
- 2022-01-27 00:27:30
@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}},
keywords = {{breast cancer; ductal comedo-type; E-cadherin; familial; lobular}},
language = {{eng}},
number = {{3}},
pages = {{199--207}},
publisher = {{BioMed Central (BMC)}},
series = {{Breast Cancer Research}},
title = {{Low frequency of E-cadherin alterations in familial breast cancer}},
url = {{http://dx.doi.org/10.1186/bcr295}},
doi = {{10.1186/bcr295}},
volume = {{3}},
year = {{2001}},
}