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ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

Date:
Thursday, Oct 26, 2023 8:00am – 1:30pm
Conference:
CGA-IGC 2023
Authors:
Marcy E. Richardson, Tina Pesaran, MA, MS, CGC, Huma Rana, Fergus Couch, Terra Brannan, Megan Holdren, MS,CGC, Deborah Ritter, Colin Young, PhD, Lauren Zec, Susan Hiraki, Michael Anderson, Melissa Southey, Clare Turnbull, Marc Tischkowitz, Shannon McNulty Gray, Sean Tavtigian, Logan Walker, William D. Foulkes, Alvaro N.A. Monteiro, Sarah Brnich, Melissa Cline, Amanda B. Spurdle, Miguel de la Hoya

This poster has been honored with the “Poster of Distinction” at CGA-ICG

Take home points: 

  1. Here present customization of the original ACMG/AMP rules for ATM and PALB2.  

  1. Recommendations include exclusion of >40% of codes for variant interpretation and a further gene- and disease-specific modification for most of the others. 

  1. In a pilot study of >30 variants for each gene resulted in a majority agreement with consensus ClinVar interpretations reduced conflicting/VUS interpretations from 11 to 5 for ATM and from 13 to 7 for PALB2.  

  1. Gene specific variant interpretation guidelines can help resolve uncertain and discrepant variant classifications.

Abstract Poster