Low frequency of E-cadherin alterations in familial breast cancer

Sima Salahshor, Haixin Lei, Huagang Huo, Vessela N Kristensen, Niklas Loman, Sara Sjöberg-Margolin, Åke Borg, Anne-Lise Borresen-Dale, Igor Vorechovsky, Annika Lindblom

Research output: Contribution to journalArticlepeer-review


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.
Original languageEnglish
Pages (from-to)199-207
JournalBreast Cancer Research
Issue number3
Publication statusPublished - 2001

Subject classification (UKÄ)

  • Cancer and Oncology

Free keywords

  • breast cancer
  • ductal comedo-type
  • E-cadherin
  • familial
  • lobular


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