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%.
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Orangene™ Saliva Collection Kit used according to manufacturer instructions. Please contact EGL for a Saliva Collection Kit for patients that cannot provide a blood sample.
- Gastrointestinal and Colorectal Cancer: Sequencing Panel
- Hereditary Cancer Syndrome: Sequencing Panel