Nov 11-13, 2022 / Nashville, TN
Poster # P-10
Friday, November 11, 2022 8:00 - 4:30pm
Jennifer Herrera-Mullar, MGC, CGC, DMA. Biallelic Variants in NTHL1 and MSH3 in Individuals Ascertained from a Multigene Panel Testing (MGPT) Cohort: a Descriptive Analysis .
Poster # P-02
Friday, November 11, 2022 8:00 - 4:30pm
Marcy Richardson, PhD, Jamie Weyandt, PhD, Colin Young, PhD, Nelly Abualkheir, MS, Elizabeth Chao; MD, FACMG. No nonsense: When a premature termination is not what it appears.
Poster # P-01
Friday, November 11, 2022 8:00 - 4:30pm
Jamie Weyandt, PhD. Truncating variants in 5’ exons of APC are associated with highly attenuated phenotypes and emphasize the need for genotype-phenotype correlation..
Session # Presidential Plenary Session I
Friday, November 11, 2022 2:30 - 4:15pm
Silvana Lobo. {CTNNA1} germline variants associate with a disease spectrum extending beyond Hereditary Diffuse Gastric Cancer
Session # Plenary Session I (Abstract 126)
Friday, November 11, 2022 2:30 - 4:15pm
Elia Namey. Disparities in the uptake of cascade genetic testing among family members of mutation-positive Lynch and HBOC syndrome patients
Session # Plenary Session I (Abstract TBD)
Friday, November 11, 2022 2:30 - 4:15pm
Andreana Holowatyi. Inherited cancer susceptibility gene mutations among patients with appendix cancer
Session # Presidential Plenary Session I
Friday, November 11, 2022 2:30 - 4:15pm
Beth Dudley. Utility of RNA testing in Individuals at Increased Risk for Hereditary or Familial Pancreatic Cancer
Session # Sponsored Lunch Industry Session
Saturday, November 12, 2022 12:20 - 1:20pm
Rachid Karam PhD., Executive Director, Clinical & Translation Research, Ambry Genetics, Anthony Scott, MD, PhD, Clinical Assistant Professor of Internal Medicine, Division of Genetic Medicine, University of Michigan Medical School. From Bench to Clinical Report: Application of RNA and Functional MAVEs to Reduce VUS and Improve Positive Yield of Genetic Testing
Session # Oral Session V (Abstract 79)
Sunday, November 13, 2022 10:55 - 12:55pm
Colin Young. A Deep Dive into APC Introns: Paired DNA/RNA Testing Identifies Novel FAP and AFAP Alleles in the Deep Intronic Regions of APC