Hereditary Cancer Clinical Domain Working Group


The Hereditary Cancer Working Group aims to centralize and curate genetic knowledge in order to develop guidance for molecular diagnostic germline cancer testing.

Goals:

  1. Identify laboratories that are generating data in the clinical domain to facilitate data submission to ClinVar
  2. Serve as the liaison between locus specific databases and similar research efforts to create partnerships with ClinVar “Expert Panel” status
  3. Implement the ClinGen Gene Curation Working Group’s “Clinical Validity classifications” and prioritize curation of genes on hereditary cancer panels
  4. Establish robust variant curation rules and processes for hereditary cancer genes


Name Role
Sharon E. Plon, MD, PhD Executive Leadership
Kenneth Offit, MD Executive Leadership
Matthew J. Ferber, PhD Executive Leadership
Adam Buchanan, MS, MPH, LGC Executive Committee
Allison Kurian, MD, MSc Executive Committee
Andy Freedman Executive Committee
Bryce Seifert, PhD Executive Committee
Deborah Ritter, PhD Executive Committee
Elizabeth Chao, MD, FACMG Executive Committee
Erin Currey Executive Committee
Erin M. Ramos, MPH, PhD Executive Committee
Fergus J. Couch, PhD Executive Committee
Helio Costa, PhD Executive Committee
Jessica Mester, MS, CGC Executive Committee
Katherine L. Nathanson, MD Executive Committee
Kenneth Offit, MD Executive Committee
Kristy Lee, MS, CGC Executive Committee
Liying Zhang, MD, PhD Executive Committee
Madhuri Hegde, PhD, FACMG Executive Committee
Marc Greenblatt, MD Executive Committee
Matthew J. Ferber, PhD Executive Committee
Michael Walsh, MD Executive Committee
Sharon E. Plon, MD, PhD Executive Committee
Sharon A. Savage, MD Executive Committee
Rachid Karam, MD, PhD Executive Committee
Xi Luo, PhD Executive Committee
Deborah Ritter, PhD Coordinator

Leadership

Sharon E. Plon, MD, PhD

Kenneth Offit, MD

Matthew J. Ferber, PhD


Coordinators

Please contact a coordinator if you have questions.

Deborah Ritter, PhD


Membership

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

Deborah Ritter, PhD


What is GENE CURATION?

A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.


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.