EPCAM Deletion/Duplication Analysis

Also known as: Lynch Syndrome

Clinical Use

Use

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.

Special Instructions

Not provided.

Limitations

The test assesses copy number variations using multiple-ligation-probe amplification (MLPA) to detect deletions and duplications of exons 8 and 9 in the EPCAM gene. This assay may not detect certain genomic rearrangements, such as balanced or unbalanced translocations, inversions, or some partial exon rearrangements, nor determine the exact breakpoints of detected deletions or duplications. It is not intended to detect somatic variants. Recent bone marrow transplantation, blood transfusion, and active hematological malignancies may affect results.

Test Details