Masterclass: Colorectal Screening Plus (Virtual) | September 2025-Gupta ASGE Masterclass CRC risk

Gupta ASGE Masterclass CRC risk_092225

Pdf Summary

This presentation by Dr. Samir Gupta focuses on precision colorectal cancer (CRC) screening, emphasizing hereditary and risk-based testing. Key learnings include recognizing populations at increased CRC risk based on race/ethnicity, family history, genetic predisposition, and phenotypic features such as polyposis.<br /><br />CRC risk varies substantially; American Indian, Alaska Native, and Black individuals have elevated CRC risk and often earlier onset compared to Whites. These disparities are largely attributed to social determinants of health rather than biological differences. Screening recommendations are thus personalized: Alaska Native and American Indian people should begin screening at age 40, Black individuals at 45.<br /><br />Family history impacts risk significantly; a first-degree relative with CRC increases risk up to threefold, emphasizing the need for detailed family cancer histories. The PREMM5 model is a useful tool to estimate Lynch syndrome risk and guide genetic evaluation. Lynch syndrome, an autosomal dominant condition with mutations in MLH1, MSH2, MSH6, or PMS2 genes, confers lifetime CRC risk up to 61% and is associated with other cancers such as endometrial and ovarian. Diagnosis relies on genetic testing, tumor mismatch repair screening, and family history, directing management with regular colonoscopy and surveillance for associated cancers.<br /><br />Polyposis syndromes like Familial Adenomatous Polyposis (FAP) and Serrated Polyposis Syndrome (SPS) also elevate CRC risk. Patients with ≥20 adenomas warrant genetic testing for FAP, with interventions including colectomy and surveillance. SPS, often underdiagnosed, requires recognizing cumulative serrated lesions and entails frequent colonoscopic clearance and maintenance without routine surgery.<br /><br />Case discussions illustrate applying risk assessment and management principles, including timely genetic testing, colonoscopy initiation aligned with family history, and coordinated multidisciplinary care.<br /><br />In summary, the approach to CRC screening should be individualized based on ethnicity, heredity, and genetic factors, with vigilant assessment of family history and polyp burden, use of predictive models like PREMM5, and comprehensive genetic counseling/testing to optimize cancer prevention and early detection.

Keywords

precision colorectal cancer screening

hereditary colorectal cancer risk

risk-based CRC testing

racial disparities in CRC

family history and CRC risk

PREMM5 model

Lynch syndrome genetics

polyposis syndromes

Familial Adenomatous Polyposis

Serrated Polyposis Syndrome