BCRF Grantee Dr. Susan Domchek Discusses New Study she Co-Authored on Genetic Testing

The recent study focuses on the uncertainty of the association of breast cancer risk with certain gene mutations

BCRF grantee Dr. Susan Domchek spoke to us about a  new study she co-authored on genetic testing for breast cancer in the “New England Journal of Medicine.” Dr. Domchek explains:

"Significant technological advances have led to the ability to look for mutations in many cancer predisposition genes at one time (so called 'cancer gene panels'). Such panels have potential advantages including time and cost efficiency. However, there can be challenges with such panels.

Mutations in different genes on the panels have different magnitudes of risk. For some, such as BRCA1 or BRCA2, the risks of breast and ovarian cancer are quite high. For others, such as CHEK2, the breast cancer risk is moderate. Finally, for others (such as BARD) the breast cancer risk is uncertain. 

A recent study in the “New England Journal Medicine” highlights the uncertainty of the association of breast cancer risk with some of the genes on these panels. Further concerns include a high rate of 'variants of uncertain significance' (changes in genes which are of unclear importance) and 'unexpectedly' finding a mutation in a gene associated with cancers that neither the individual tested nor their family have.

For all of these reasons, it is important that individuals considering panel testing understand the potentials advantages and disadvantages for their particular situation and discuss the best plan with their health care provider."

Dr. Susan Domchek is Professor of Medicine and the Basser Professor in Oncology at the Perelman School of Medicine of the University of Pennsylvania. She is the Executive Director of the Basser Research Center for BRCA1/2 at the Abramson Cancer Center at the University of Pennsylvania. She also directs the MacDonald Women's Cancer Risk Evaluation Center, which focuses on genetic evaluation and medical management of patients and individuals with BRCA1 and BRCA2 mutations and other inherited risk factors for cancer.