EPCAM Deletion/Duplication Analysis

Can confirm a clinical diagnosis of HNPCC and allow early diagnosis in family members, guiding preventive measures. Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal-dominant, genetically heterogeneous syndrome caused by heterozygous mutations in mismatch repair genes (MMR). HNPCC is estimated to account for 4% to 6% of colorectal cancer and is characterized by early onset, a predominant proximal location of colon cancer, multiple primary cancers, and significantly improved survival when compared stage for stage to sporadic colon cancer survival rates. EPCAM gene accounting for an estimated 1% to 3% of all detectable HNPCC syndrome mutations. Studies indicate that large deletions in the end of this gene can lead to a loss of MSH2 expression and result in HNPCC. Genetic testing can confirm the diagnosis of HNPCC and can also identify presymptomatic individuals among the patient's relatives.