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.
|Fergus J. Couch, PhD||Executive Leadership|
|Marcy Richardson, PhD||Coordinator|
|Kelly McGoldrick, PhD||Member|
|Tina Pesaran, MA, MS, CGC||Member|
|Michael Anderson PhD||Member|
|Sean Tavtigian, PhD||Member|
|Amanda Spurdle, PhD||Member|
|Thomas Slavin, MD||Member|
|Lauren Yackowski, MS, LCGC||Member|
|Susan Hiraki, MPH, MS, CGC||Member|
|Jean-Yves Masson, PhD, FCAHS||Member|
|Melissa Southey, PhD, FHGSA, FFSc (RCPA)||Member|
|Clare Turnbull, MD PhD MA MSc MRCP MFPH||Member|
|Miguel de la Hoya, PhD||Member|
|Marc Tischkowitz, MD, PhD||Member|
|Huma Q. Rana, MD||Member|
|Sarah Nielsen, MS, CGC||Member|
|Logan Walker, PhD||Member|
|William Foulkes, MBBS, PhD||Member|
|Sarah Elisabeth Brnich||Member|
Please contact a coordinator if you have questions.
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.