Study: Few At-Risk Women Get Tested for BRCA 1-2 Gene Mutation

More than one-fifth of women newly diagnosed with breast cancer have at least a 10 percent chance of carrying a BRCA 1 or BRCA 2 gene mutation but few take advantage of genetic screening, according to researchers at Massachusetts General Hospital in Boston.

Women with breast cancer who have the BRCA 1-2 gene mutations are at a high risk of developing contralateral (on the other side) breast and ovarian cancer. These risks can influence the management of patients with newly diagnosed breast cancer.

Researchers interviewed 50 women with newly diagnosed breast cancer and a genetic counselor collected three-generation pedigrees on each woman. The researchers estimated each woman's risk of expressing a BRCA 1-2 mutation using three common probability models.

Twenty-two percent of the women showed at least a 10 percent probability of expressing a BRCA 1-2 mutation using at least one model and should have been offered genetic counseling that included the discussion of genetic testing. Only one of the 11 women eligible for genetic testing was tested, the researchers reported in the journal Cancer.

"The actual number of patients eligible to receive BRCA 1-2 genetic testing outweighs the number of patients seen for genetic counseling at the study institution," concluded the researchers.

Other Sources: Cancer