Introduction to Hereditary Sarcoma and Genetic Counselling for Sarcoma - Ambry Genetics

Explore the world of hereditary sarcoma and genetic counseling in this informative webinar presented by Genetic Counselor Irene Rainville from Ambry Genetics. Gain a comprehensive understanding of major sarcoma subtypes, key syndromes associated with hereditary sarcoma risk, and approaches to genetic diagnosis and management practices. Delve into topics such as Li-Fraumeni Syndrome, Familial Adenomatous Polyposis, Retinoblastoma, Gastrointestinal Stromal Tumor (GIST), and rare inherited sarcoma predispositions. Learn about testing criteria, medical management strategies, and surveillance protocols like the Toronto Protocol for Li-Fraumeni Syndrome. Discover counseling and testing issues, family case studies, and valuable resources for further information. Benefit from Dr. Rainville's expertise in cancer genetics and prevention, particularly in counseling adults with sarcoma and pheochromocytoma paraganglioma syndrome.

Intro
Objectives
Sarcoma Overview
Li-Fraumeni Syndrome Testing Criteria
Sarcoma in LFS
Li-Fraumeni Syndrome • Medical Management can include
Surveillance: Toronto Protocol for LFS
Survival of TP53 mutation carriers in surveillance and nonsurveillance groups
Counseling and Testing issues in LFS
Family with Li Fraumeni-like syndrome
Familial Adenomatous Polyposis Classic FAP
FAP Management
Desmoid in FAP
Retinoblastoma Monitoring: Secondary
Leiomyosarcoma in Hereditary Rb
Gastrointestinal Stromal Tumor (GIST)
Neurofibromatosis Type
Familial GIST: Germline KIT mutation
Hereditary GIST Management
SDH-deficient GIST: Germline SDHA
Rare Inherited Sarcoma Predisposition
Summary Clinical Approach
Resources