Hereditary Breast Ovarian and Pancreatic Cancer Variant Curation Expert Panel


The intent is to define gene specifications of the ACMG/AMP rules for the classification of variants in the non-BRCA1/2, non-MMR DNA repair associated breast, ovarian and pancreatic cancer predisposition genes (ATM, BARD1, BRIP1, CHEK2, RAD51C, RAD51D, and PALB2). These genes are all involved in homologous recombination DNA repair and/or cell cycle regulation in response to DNA damage and are often tested concurrently using multigene clinical hereditary cancer testing panels when evaluating patients for mutations conferring increased risk of breast, ovarian, and pancreatic cancer.

Expert Status - In progress

Step 1
Step 2
Step 3
Step 4
Define Group
Complete
Develop Classification Rules
In progress
Pilot Rules
Expert Panel Approval

Leadership

Fergus J. Couch, PhD


Coordinators

Please contact a coordinator if you have questions.

Marcy Richardson, PhD
mrichardson@ambrygen.com


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Marcy Richardson, PhD
mrichardson@ambrygen.com


What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.