A new study from London’s Institute of Cancer Research (ICR) could result in a screening method for breast and ovarian cancers, and potentially prevention and early detection.
The research, published in the journal Nature, identified the gene PPM1D as a source of mutations that could potentially lead to an increase in ovarian and breast cancers by a factor of ten. Women who have mutations in PPM1D have a staggering one in five chance of eventually developing cancer of the breasts or ovaries.
What makes this discovery so interesting is the fact that this particular type of cancer-causing gene mutation behaves very differently from most mutations. Whereas copies of mutated genes typically occur in all cells, PPM1D’s mutation appears to only be copied to blood cells, meaning without this discovery the cancerous nature of this gene mutation may have gone unnoticed during standard genetic screenings.
As ICRs Professor Nazneen Rahman puts it, “. . . this finding is stimulating radical new thoughts about the way genes and cancer can be related.”
Ovarian cancer, in particular, tends to be more problematic because of its lack of early symptoms. Many women don’t discover this cancer until it is too late for effective treatment. Prior knowledge of a genetic mutation predisposing women to ovarian cancer could help them obtain regular testing and early treatment. Professor Rahman even speculates that a woman who has the PPM1D mutation “might consider keyhole surgery to remove her ovaries after completing her family,” therefore offering a preventative option, as well.
This discovery adds to the growing list of cancer screening methods available for women. We already know from previous research, for example, that mutated versions of the genes BRCA1 and BRCA2 can lead to both ovarian and breast cancer, in addition to cancers of the uterus, cervix, pancreas, colon and other organs. Knowledge of the existence of these gene mutations, particularly when coupled with a family history of these cancers, often gives a clear warning of the possibility that cancer could develop.
Now that gynecological medicine has become aware of the connection between the PPM1D mutation and these types of cancers, genetic screenings can be broadened to include these indicators. It’s important to note that these mutations indicate an increase in the likelihood of cancer, but they do not make developing the illness a certainty by any stretch.
In lieu of a full genetic screening, the best thing most women can do to aid in prevention and early detection is to find out how many female relatives have suffered from these cancers. If your mother, sisters, aunts or grandmothers have had breast or ovarian cancer, you unfortunately face a higher risk of developing it yourself. Take the time to learn your full family history, and talk to your well woman care provider about any concerns.
