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This much is clear: Women with loss-of-function mutations in the tumor suppressor genes BRCA1 and BRCA2 are at very high risk for developing breast and ovarian cancers.
What is far less certain, however, is whether all women – not just a relatively small number of those known to be at high risk for inherited mutations – should be offered genetic screening for BRCA1 and BRCA2 mutations.
In a provocative study published online Sept. 5 in the Proceedings of the National Academy of Sciences (doi:10.1073/pnas.1415979111) and expanded on in the Journal of the American Medical Association, Dr. Mary-Claire King and colleagues in Israel propose offering genetic screening for BRCA1 and BRCA2 mutations to young adult women in the general population.
Dr. Mary-Claire King
Dr. King, professor of genome sciences and medical genetics at the University of Washington, Seattle, is credited with the discovery of BRCA1 and BRCA2 mutations in familial breast and ovarian cancers. She received the 2014 Lasker~Koshland Special Achievement Award in Medical Science from the Lasker Foundation for the discovery, and for her other work in human genetics.
“Based on our 20 years’ experience working with families with cancer-predisposing mutations in BRCA1 and BRCA2, it is time to offer genetic screening of these genes to every woman, at about age 30, in the course of routine medical care. Women with cancer-predisposing mutations in BRCA1 and BRCA2 are a high-risk group in whom special screening and counseling can be focused,” Dr. King and colleague Dr. Ephrat Levy-Lahad of the Medical Genetics Institute at Shaare Zedek Medical Center, Jerusalem, write in an opinion piece adapted from her award speech (JAMA. 2014;312(11):1091-2).