The Somatic/Germline Working Group aims to understand how to incorporate somatic cancer variant information into interpreting germline variants in the context of hereditary cancers. We have proposed limited, targeted points at which data such as cancer hot spots and focal somatic LOH can be used to aid germline variant interpretation.
|Sharon E. Plon, MD, PhD||Executive Leadership|
|Michael Walsh, MD||Executive Leadership|
|Deborah Ritter, PhD||Coordinator|
|Deborah Ritter, PhD||Member|
|Chimene Kesserwan, MD||Member|
|Liying Zhang, MD, PhD||Member|
|Rajarshi Ghosh, PhD||Member|
|Shashikant Kulkarni, PhD||Member|
|Subha Madhavan, PhD||Member|
|Elizabeth Chao, MD, FACMG||Member|
|Minjie Luo, PhD||Member|
|Kenneth Offit, MD||Member|
|Sharon A. Savage, MD||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.