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CDH1
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Interpretation 324
Tier 2
CDH1
Variants
CDH1 any indel
Primary Sites
Breast
Tumor Types
Interpretation

CDH1 on 16q22.1 encodes E-cadherin which functions in intercellular adhesion. E-cadherin is involved in transmitting chemical signals and controlling cell maturation and movement, and acts as a tumor suppressor. A lack of functional E-cadherin impairs cell adhesion and increases the likelihood of invasion and metastasis of tumor cells. Invasive lobular breast cancer (ILC) accounts for 10-15% of invasive breast cancers and is characterized by loss of E-cadherin expression due to mutations, loss of heterozygosity and hypermethylation. Germline CDH1 mutations have been found to cause a familial cancer disorder called hereditary diffuse gastric cancer (HDGC). CDH1 mutation identification in HDGC families has important clinical implications for gastric and breast cancers risk assessment in unaffected family members. The estimated risk for invasive lobular carcinoma in females with germline CDH1 mutations is approximately 40% by age 80 years. Prognostic and therapeutic implications of this alteration remain to be fully elucidated. The 50 gene panel hotspot assay cannot distinguish between germline or somatic (acquired) variants. Correlation with other clinical and lab findings, including genetic counseling, may be helpful, if clinically indicated.

Citations
  1. Dossus L, et al. Lobular breast cancer: incidence and genetic and non-genetic risk factors. Breast Cancer Res 2015;17():37
  2. Hansford S, et al. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. JAMA Oncol 2015;1(1):23-32
  3. Petridis C, et al. Germline CDH1 mutations in bilateral lobular carcinoma in situ. Br J Cancer 2014;110(4):1053-7
  4. van der Post RS, et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet 2015;52(6):361-74
  5. Ciriello G, et al. Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer. Cell 2015;163(2):506-19
Last updated: 2017-01-03 17:50:11 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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