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Low frequency of E-cadherin alterations in familial breast cancer.

Salahshor S, Haixin L, Huo H, Kristensen VN, Loman N, Sjöberg-Margolin S, Borg A, Børresen-Dale AL, Vorechovsky I, Lindblom A - Breast Cancer Res. (2001)

Bottom Line: No pathogenic germline alterations were detected in these individuals.Another 10 families with cases of breast, gastric and colon cancer were also screened for germline mutations, and no mutations were found.The frequencies of this alteration were similar in these groups.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden.

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.

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The 3' splice site alteration in the E-cadherin gene (49-2A→C) in tumor M279.
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Figure 2: The 3' splice site alteration in the E-cadherin gene (49-2A→C) in tumor M279.

Mentions: No pathogenic mutations were identified in the 12 patients from families with documented breast, gastric or colon cancer. We also searched for germline alterations in 19 individuals with familial breast cancer who showed LOH at the E-cadherin locus in their tumours. Nine tumours from these 19 patients were also tested for somatic alterations in the E-cadherin gene. One somatic mutation (49-2A→C) was found in one of the lobular cancer cases (Fig. 2). One previously reported common polymorphism in E-cadherin [11] was found in exon 13 at codon 692 (GCC→GCT).


Low frequency of E-cadherin alterations in familial breast cancer.

Salahshor S, Haixin L, Huo H, Kristensen VN, Loman N, Sjöberg-Margolin S, Borg A, Børresen-Dale AL, Vorechovsky I, Lindblom A - Breast Cancer Res. (2001)

The 3' splice site alteration in the E-cadherin gene (49-2A→C) in tumor M279.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC30704&req=5

Figure 2: The 3' splice site alteration in the E-cadherin gene (49-2A→C) in tumor M279.
Mentions: No pathogenic mutations were identified in the 12 patients from families with documented breast, gastric or colon cancer. We also searched for germline alterations in 19 individuals with familial breast cancer who showed LOH at the E-cadherin locus in their tumours. Nine tumours from these 19 patients were also tested for somatic alterations in the E-cadherin gene. One somatic mutation (49-2A→C) was found in one of the lobular cancer cases (Fig. 2). One previously reported common polymorphism in E-cadherin [11] was found in exon 13 at codon 692 (GCC→GCT).

Bottom Line: No pathogenic germline alterations were detected in these individuals.Another 10 families with cases of breast, gastric and colon cancer were also screened for germline mutations, and no mutations were found.The frequencies of this alteration were similar in these groups.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden.

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.

Show MeSH
Related in: MedlinePlus