Low frequency of E-cadherin alterations in familial breast cancer.
作者： Sima Salahshor , Lei Haixin , Huagang Huo , Vessela N Kristensen , Niklas Loman
DOI: 10.1186/BCR295
关键词:
摘要: In order to explore the possible role of E-cadherin in familial cancer, 19 breast cancer patients, whose tumours demonstrated loss heterozygosity (LOH) at locus, were screened for germline mutations. No pathogenic alterations detected these individuals. However, a somatic mutation was found (49-2A→C) one tumours. This tumour showed pattern both ductal and lobular histology. Another 10 families with cases breast, gastric colon also mutations, no mutations found. A missense exon 12 (1774G→A; Ala592Thr) previously family diffuse cancer. An allelic association study performed determine whether Ala592Thr alteration predisposes total, we studied 484 614 sporadic patients 497 control The frequencies this similar groups. correlation between comedo-type seen. These results, together reported studies, indicate that and, more commonly, may have an influence on behaviour tumours, rather than predispose
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