According to the latest statistics, one in eight women (about 12%) will develop invasive breast cancer in their lives. The diagnosis of breast cancer affects many aspects of a woman’s life (health, self-esteem, lost work, family dynamics, etc.). Because of this, most women fear it more than any other disease process.
About 5 to 10% of breast cancers can be linked to gene mutations (abnormal changes) inherited from one’s mother or father. Mutations of the BRCA1 and BRCA2 genes are the most common. Women with a BRCA1 mutation have a 55 to 65% risk of developing breast cancer before age 70, and often at a younger age that it typically develops. For women with BRCA2 mutation, this risk is 45%.
About 85% of breast cancers occur in women who have no family history of breast cancer. These occur due to genetic mutations that happen as a result of the aging process and life in general, rather than inherited mutations.
So, if you don’t have BRCA gene mutations are you safe? there are lists of other proposed mutations that are being investigated as putting a woman at higher risk for cancer. This includes a MTHFR (Methylenetrahydrofolate reductase) mutation. Thirty to 40% of Caucasians carry one mutated copy of MTHFR 677T gene, and 12 to 15% have two mutated copies of MTHFR 677T genes.
MTHFR genes are involved in programming an enzyme that helps detoxify your body. One of the things that are detoxified is estrogen. Therefore, if a woman has a “mutated” MTHFR gene, she may be at risk for estrogen accumulation. Think of it as a sink that has hair clogged in the drain. The water can get through, but at a slower rate, causing a back up if the water is running at a higher volume.
How can you fine out? Should everyone get tested for the gene MTHFR? Not necessarily. There are numerous other genes involved in detoxification and MTHFR is only one of many. A urine test can look at urinary metabolites of estrogen (among other hormones) and determine if you have any blockage or detoxification. If you are at high risk for breast cancer (family history, BRCA or other risk factors) you may want to consider investing in this testing.
Another challenge is the premenopausal breast cancer patients who are often prescribed Tamoxifen with the assumption that it will block the body’s estrogen. However, this does not always happen. In fact, some of these women still have monthly menstruation! If the estrogen is getting into the uterus to induce a period, then it certainly can access the breast. In addition, estrogen has a much higher bonding strength to the breast compared to Tamoxifen. The ultimate concern is these patients may still be at risk for recurrence from their own hormones.
Often times it is a simple supplement (methylated folic acid, for example) that can help these enzymes work better. The key is to identify ladies at risk. I recommend every woman with premenopausal breast cancer or at risk of breast cancer get their hormones measured to assess their risk.
And as far as blaming your parents for these “mutant genes,” you can’t. They are acquired and usually develop over time. So, I guess we will have to take the blame ourselves.
1. Boothby, Lisa A. Et al “Bioidentical hormone therapy: a review” in Menopause, 2004. Vol 11, pp. 356-367.
3. Kluijtmans LA, et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. AM J Hum Genet 1996;58(1):35-41.
4. DeRoo LA, et al. Global DNA methylation and one-carbon metabolism gene polymorphisms and the risk of breast cancer in the Sister Study. Carcinogenesis 2013; 35:333-338.