The Link Between MTHFR and Breast CancerBreast cancer awareness and new breast cancer treatments – these are in the news almost constantly. Studies are being done on using your genetic footprint to help determine which chemotherapy might be best to treat your breast cancer.

Now, as exciting as things might be, I think it is way more exciting to know something about prevention. Prevention doesn’t get headlines because cancer that doesn’t appear is not news. Without breast cancer, you can just go about your day.

One factor that has been identified as important in breast cancer prevention is MTHFR (aka NADPH). Several web stites have dedicated themselves to helping you understand this important gene.

MTHFR is the abbreviation for methylenetetrahydrofolate reductase. If you are a biochemist, you already have an idea of what that means and, if you don’t, this doesn’t mean much to you, right? The short version is that enzymes are biochemicals that help convert one molecule to another; in this case, helping the body convert between different forms of the vitamin folate. This is important, as the body needs this reaction to help, among other things, convert homocysteine to methionine. Defects in this enzyme can slow this reaction, resulting in a buildup of homocysteine and other products not so friendly to your physiology like ammonia. This buildup of homocysteine can also lead to low BH4 and low nitric oxide. Here are some quick definitions before we continue:

  • Homocysteine is an inflammation marker and has also been linked as a primary agent in the development of a long list of diseases, including breast cancer.
  • BH4 is a coenzyme. Suffice it to say that its activity is important in maintaining the balance of serotonin, dopamine, norepinephrine and nitric oxide.
  • Nitric oxide is involved in energy production, cardiovascular production and genetic expression.
  • Ammonia is a general cell toxin, and leads to disrupted physiology and even cell death if chronic. This will affect an organ system.

So, a heterozygous or homozygous problem at the MTHFR gene can lead to a less-than-ideal function of the associated enzyme. That leads to a chain reaction in several pathways. It is the partial disruption of these pathways that leads to alterations in physiology that eventually shows up as something that we call “disease.”

We can either wait for the disease state to develop, or we can try to understand what is compromised and try to give the body what it needs so that the aberrant physiology doesn’t develop so quickly, or maybe even not develop at all.

Over 4,000 studies have been published that link various diseases to the MTHFR gene and, as I mentioned above, breast cancer is one of them. As important as this is, we don’t like to hang too much on just one gene. If you look at any biochemical pathway, you quickly get an idea of its complexity. With that in mind, our favorite approach is to look at a few hundred genes, including MTHFR. Your body doesn’t just work with one gene to achieve a certain effect, and you shouldn’t either.

I have described the 23andMe and Nutrahacker approach to gene analysis in previous posts, and it is also a focus of our new podcast. You can go directly to or subscribe in iTunes to listen on your mobile device. The QOLcast podcasts are dedicated to helping you have a healthier, better quality of life. In each episode, I attempt to make the complex simple, to help you make better health decisions, just like I do in these blogs.

Here is a partial list of serious conditions that are linked to the MTHFR gene and/or homocysteine:

  • Birth defects such as spina bifida or neural tube defects
  • Hypertension
  • Down’s Syndrome
  • Methotrexate toxicity
  • Breast cancer
  • Deep vein thrombosis
  • Colon cancer
  • Nitrous oxide toxicity
  • Atrial fibrilation
  • Epilepsy
  • Infertility
  • Peripheral artery disease
  • Migraines
  • ADHD
  • Rheumatoid arthritis
  • Congenital heart disease
  • Autism
  • Metformin toxicity
  • Meningioma

I am reminded of efforts to reduce air pollution in China. Much work is being done to get people into electric cards and other low emission vehicles. This is turning out to have a disappointing effect on the actual air quality, because pollutants are coming from several sources, including household cooking. Focusing on cars is important, but ultimately not going to solve the whole problem by itself.

So it is with MTHFR. We have to look at a wide variety of genes to see what is going wrong with a person’s health. This is an exciting time to be a clinician trying to understand basic health issues, as we have so many tools that weren’t available or even thought of 50 years ago. Now, for less than $200, we can get a pretty good idea of the compendium of genes that are truly helpful in working out a better health plan.

So, when you hear about MTHFR and see how excited people are to know about this gene, you can nod your head and acknowledge that you know about it and that it is indeed an important component of health, but realize that it is probably meaningless without knowing how other complementary genes are doing their jobs too.