Hereditary Colorectal Cancer Testing clinician guide

Ambry’s test offerings are designed to provide flexible, comprehensive options tailored to your patients’ personal and family histories.

New Solutions for Hereditary Colorectal Cancer Identifying and understanding the genetic contribution to colorectal cancer (CRC) allows for individualized disease management, and provides insight into personal and familial risks for cancer. For the portion of colorectal cancer that is due to inherited causes (up to 10%), modified treatment, surveillance, and risk-reducing options may be appropriate.

colorectal cancer distribution Familial, up to 20%

Hereditary, up to 10%

Sporadic, up to 70%

Lynch, up to 4% FAP, up to 1% MAP, up to 1% Other rare syndromes, up to 4%

The precise contribution of any given gene to hereditary colorectal cancer is difficult to quantify. Suggested contributions described in literature are depicted above. Up to 30% of CRCs have an underlying familial basis and up to 10% are due to an identified genetic syndrome. FAP: Familial adenomatous polyposis MAP: MUTYH-associated polyposis

Ambry Genetics Offers Several Testing Options for Hereditary Colorectal Cancer: 1. Lynch syndrome: MLH1, MSH2, MSH6, PMS2, EPCAM 2. Polyposis syndromes: APC, MUTYH, PTEN, BMPR1A, SMAD4, STK11 3. ColoNext: a next generation sequencing (NGS) panel of 14 colorectal cancer susceptibility genes (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53)

Lynch Syndrome

Mutations in these highly penetrant genes cause increased risk for cancers of the colon, uterus, stomach, ovaries, and others.

lynch syndrome lifetime cancer risks (%)* Up to 82% General Population Lynch syndrome 2560%

Up to 5.5%

Colon Cancer

6-13% Up to 2.7%

Uterine Cancer

4-12% 3-6%