Too Soon for Broad BRCA Screening

Maurie Markman, MD


October 07, 2014

This feature requires the newest version of Flash. You can download it here.

I am Dr Maurie Markman, from Cancer Treatment Centers of America in Philadelphia. I want to discuss an interesting study,[1] and the controversy that has come up surrounding the commentary, made by one of the authors of the paper, Mary-Claire King,[2] who is a very well-known researcher—the individual in whose lab the BRCA mutation and its relationship to the risk for breast and ovarian cancer were discovered.

The study looked at population-based screening for breast and ovarian cancer risk in Israel, and specifically at the presence of BRCA1 and BRCA2 mutations. They detected a number of abnormalities in women who had no family history of breast or ovarian cancer.

Dr King, on the basis of this analysis and other work, has recommended that routine screening for BRCA1 and BRCA2 mutations be offered to all women when they reach an age when the risk for breast or ovarian cancer is present. This has led to some controversy.

Other individuals and groups have suggested that the data currently do not support this strong recommendation if there is no particular reason to be concerned, such as in individuals who belong to a group, such as the Ashkenazi Jewish population in the United States or Israel, in whom there is a known high risk. In the absence of that risk or any family history of breast or ovarian cancer, we are not ready to make the recommendation that all women should have routine screening for the presence of these mutations.

Clearly, additional information will be forthcoming. Other groups will be looking at the question. Other studies are going to be looking for risks for genetic abnormalities and the development of breast or ovarian cancer, and that may alter these recommendations. But I support the opinion of many that we are not ready to make this broad recommendation that all women should be screened for the presence of BRCA1 and BRCA2 mutations.

I would encourage you, if you are interested in the topic, to read the paper,[1] which was published in the Proceedings of the National Academy of Sciences, titled "Population-Based Screening for Breast and Ovarian Cancer Risk Due to BRCA1 and BRCA2" and also the commentary, "Population-Based Screening for BRCA1 and BRCA2."[2] This won a 2014 Lasker Award and was published in JAMA.

A very interesting conversation and a very interesting topic. Clearly, we are going to hear more about this discussion in the future. I thank you for your attention.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as: