rs1555509646

This variant is located in the CDH1 gene.

ClinVar annotation

Pathogenic★★★★
6 submitters6 publications

Hereditary diffuse gastric adenocarcinoma; not provided; Hereditary cancer-predisposing syndrome; CDH1-related diffuse gastric and lobular breast cancer syndrome; Familial cancer of breast

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About CDH1

This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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