Explore the intricacies of prostate cancer genetic risk assessment in this 55-minute webinar presented by Ambry Genetics. Delve into the world of genome-wide association studies (GWAS) and single nucleotide polymorphisms (SNPs), understanding their role in explaining complex disease heritability. Learn about polygenic risk scores (PRS) and genetic risk scores (GRS), their calculation methods, and the importance of calibration. Discover how these tools can be used to personalize patient disease risk, with a focus on prostate cancer as a prime example. Gain insights from Dr. Brian Helfand, a board-certified urologist and Director of the Prostate Cancer Program at NorthShore University HealthSystem, as he discusses the integration of PRS with family history and rare pathogenic mutation information for comprehensive risk assessment. Explore topics such as broad-sense and narrow-sense validity, current clinical practices, and the benefits of genetic assessment in predicting risk, prognosis, and therapeutic responses for prostate cancer. Examine case examples and management strategies, providing a thorough understanding of how genetic risk assessment can be applied in clinical settings to improve patient care and outcomes.
Prostate Cancer Genetic Risk Assessment - Webinar - Ambry Genetics
Overview
Syllabus
Intro
Disclosures
Three Inherited Risk Measures
Genetic Risk Score
Does GRS Work?
Broad-sense Validity
Narrow-sense Validity
Current Clinical Practice
Hypothesis for the Need
Direct Evidence from UKB
GRS of PCa in UKB
RPMs of PCa in UKB
Association with PCa Risk/Mortality
Simple and Clean Analysis
PCa Diagnosis-free Survival
Benefits of Genetic Assessment in
Predicting Risk: PCa Screening
Rare Pathogenic Mutations (RPMs)
Consistent Evidence for HOXB13
Evidence for Prostate Cancer Susceptibility Genes
Cumulative Effects of 100 SNPs
GRS Modifies BRCA2 Effect in PCa
Predicting Prognosis: Early Stage
Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate cancer and are Associated with Early Age at Death
Predicting Therapeutic Responses: Late Stage
BRCA2 mutations and Response to Carboplatin-based Therapy
High Levels of Microsatellite instability (MSI-H) and DNA Mismatch Repair Gene (MMR) Mutations: Actionable with Anti-PD-L1 agents
Conclusions
Case Example
Management?
Surgical Specimen
Taught by
Ambry Genetics
