Colorectal Cancer – Genetic Testing

Colorectal cancer is a multifactorial disease, with hereditary predisposition playing a significant role. Lynch Syndrome is the most common inherited form of colorectal cancer, while other genetic conditions such as FAP, MAP, and Peutz-Jeghers syndrome also increase cancer risk.

The GENOSOPHY® Genetic Test for Hereditary Colorectal Cancer includes 23 genes, offering comprehensive genetic screening for inherited cancer syndromes.

Conditions Covered by the Genetic Test

• Lynch Syndrome: Significantly increases the risk of colon, rectal, and endometrial cancers.
• Familial Adenomatous Polyposis (FAP): Causes hundreds of polyps, which if left untreated, almost always progress to cancer.
• MUTYH-Associated Polyposis (MAP): Leads to multiple adenomas and elevated colorectal cancer risk.
• Peutz-Jeghers Syndrome: Causes polyps throughout the gastrointestinal tract and increases risk for several types of cancer.
• Juvenile Polyposis Syndrome: Characterized by multiple polyps and an increased risk of gastrointestinal cancers.
• Other hereditary cancer syndromes.

Clinical Benefits

Diagnosis

• Identification of pathogenic variants associated with increased colorectal cancer risk
• Differentiation between sporadic and hereditary cancer forms

Prognosis

• Assessment of individual and familial cancer risk
• Guidance on preventive monitoring and early therapeutic interventions

Management

• Decision-making regarding enhanced surveillance or preventive procedures
• Support in treatment strategy planning

Testing Procedure

1. Sample collection (blood or saliva)
2. NGS analysis of 23 genes linked to hereditary colorectal cancer
3. Results available in approximately 5 weeks

Comprehensive genetic counseling and interpretation are available from Professors at the National and Kapodistrian University of Athens (EKPA) as an optional service.

Genes Included in the Test

APC, AXIN2, BLM, BMPR1A*, CDH1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2*, POLD1, POLE, PTEN*, RPS20, SMAD4, STK11, TP53

Note: In addition to all coding exons, the GENOSOPHY® test examines dozens of non-coding variants, such as promoters and introns, which may hold clinical value. The detection sensitivity for SNVs, indels, and CNVs is >99%, with slightly reduced sensitivity for genes marked with an asterisk (*).

The GENOSOPHY® Hereditary Colorectal Cancer Panel offers a reliable and advanced genetic investigation, supporting both cancer prevention and personalized patient management.