Invitae Colorectal Cancer Panel

Colorectal cancer, also known as CRC, is a malignancy of the large intestine. There are two types of hereditary colon cancer syndromes: lynch syndrome and polyposis syndromes. Lynch syndrome, called HNPCC for short, is caused by pathogenic variants in MLH1, MSH2, MSH6-, PMS2- and EPCAM genes. This condition is the most common inherited cause of colorectal cancer. Polyposis syndromes form numerous precancerous polyps which may turn malignant over time.

Up to 5% of heritable cases are due to Lynch syndrome, less than 1% are due to familial adenomatous polyposis (FAP) and less than 0.1% are due to hamartomatous polyposis syndromes, including juvenile polyposis syndrome (JPS), MUTYH-associated polyposis (MAP) and Peutz-Jeghers syndrome (PJS).

Assay information

This test is developed by Invitae, a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory. The test performs analysis of clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons, depending on the specific gene or test. It also includes the analysis of select non-coding variants.

Sensitivity

This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae’s methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons.