Clinical Domain Working Groups

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 Panel Status

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Nov. 2018
Develop Classification Rules
Pilot Rules
In progress
Expert Panel Approval

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.


Please contact a coordinator if you have questions.