Ovarian Cancer Risk and BRCA1 Methylation

(January 31, 2018) A study published in the Annals of Internal Medicine explains that researchers now believe that the methylation of normal BRCA1 gene promotion, not solely BRCA1 mutation, is a risk factor for ovarian cancer. Methylation can be detrimental because it blocks a gene from being transcribed, which means that it can’t repair any DNA damage. This is an important finding because, when women are tested for BRCA1 mutations, they could have results that indicate normal BRCA1 genes but methylation can still occur.

The study looked at about 1,500 women with ovarian cancer, none of whom had BRCA mutations, and compared them to a control group of about 3,700 women. Although the BRCA1 genes were normal in most of the women, 9% of those in the group with ovarian cancer had a BRCA1 promoter methylation abnormality. Only 4% of those in the control group had that same abnormality.

The results of this study identify the BRCA1 methylation as the second strongest risk factor for ovarian cancer, the first being a BRCA1 mutation. This alone can bring about new ideas for treatments for ovarian cancer patients. It’s also important to note that this test was done with white blood cells, rather than with tissue samples.