Women with a CDH1 pathogenic variant have a 39-52% lifetime risk for lobular breast cancer and a 63-93% risk of developing diffuse gastric cancer. Men have an estimated 40-67% lifetime risk of developing diffuse gastric cancer. Diffuse gastric cancer generally occurs before age 50 in CDH1 pathogenic variant carriers, though cases under the age of 18 have been reported with a family history of hereditary diffuse gastric cancer.
- Kaurah P, MacMillan A, et.al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA. 2007;297:2360–72.
- Pharoah PD, Guilford P, Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001;121:1348–53.
- Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392:402–5.
This test is indicated for:
- Confirmation of a clinical diagnosis of diffuse gastric cancer syndrome.
Clinical Sensitivity: Unknown. Pathogenic variants in the promoter region, some pathogenic variants in the introns and other regulatory element pathogenic variants cannot be detected by this analysis. Large deletions will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's biochemical phenotype.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Gastrointestinal and Colorectal Cancer: Sequencing Panel
- Hereditary Cancer Syndrome: Sequencing Panel