The 'prophylactic' removal of women's breasts due to BRCA1/BRCA2 status has become a disturbingly popular trend, and increasingly it is being celebrated in the mainstream media and medical establishments as a reasonable choice. But does the scientific evidence itself refute this approach?
Angelina Jolie's recent announcement in a New York Times op-ed that she had a 'prophylactic' double mastectomy due to her BRCA1/BRCA2 status has disturbing implications, some of which we covered late last year in connection with Allyn Rose, the 24-year old Miss America contestant who announced she would be undergoing a double mastectomy to "prevent" breast cancer.
Beyond the fact that as high-profile celebrities their decisions will affect millions of women's perception of the procedure, likely making them more accepting of the concept, their decisions also reflect profound misconceptions about gene-mediated disease risk embedded deeply within popular consciousness, from which prevailing medical opinion is hardly immune.
First, there is a common misconception about the role that the so-called breast cancer susceptibility genes, BRCA1 and BRCA2, play in breast cancer disease risk and prognosis. BRCA mutations vary widely by ethnicity and are exceedingly rare in the general population, which is why, as NBCNews.com recently reported, "The U.S. Preventive Services Task Force recommends that only women with a strong family history even think about getting a BRCA genetic test –which is only 2 percent of U.S. women." But even in those in which a BRCA mutation is identified, the genes, in and of themselves, do not alone make the disease.
Despite the commonplace refusal of so-called 'evidence-based medicine' to acknowledge the actual evidence of genetics, we moved into a Post-Genomic era over a decade ago following the completion of first draft of the entire human genome in 2000. At that moment, the central dogma of molecular biology – that our DNA controls protein expression, and therefore disease risk – was disproved. Our genome was found to contain roughly 20,000 genetic instructions – not even enough to account for the 100,000 proteins in the human body!
As a result, we must now accept that factors beyond the control of the gene, known as epigenetic factors, and largely determined by a combination of nutrition, psychospiritual states that feed back into our physiology, lifestyle factors, and environmental exposures, constitute as high as 95% of what determines any disease risk. In fact, even the psychological trauma associated with being diagnosed with cancer can drive malignancy via adrenaline-mediated multi-drug resistance,[i] and according to a recent NEJM study, lead up to a 26-fold increased risk of heart-related deaths in the seven days following diagnosis.[ii]
Given this fact, Jolie's decision to have a bilateral mastectomy in order to excise from her body the breast tissue that contains BRCA1/BRCA2 genes which are known to interfere with the repair of radiation-induced DNA damage, rather than focusing on reducing or eliminating all future radiation exposure from her breasts, or incorporating hundreds of nutritional components experimentally confirmed to protect against radiation and associated genotoxic insults to the breast, reflects a iron clad faith in the inevitability of gene-driven cancer vis-à-vis a fundamentally powerless subject, versus trust in the body's ability to prevent and heal all disease, assuming it has the right conditions.
Another common misconception is that you either have, or don't have the "BRACA genes," as if they were monolithic entities, ascertained with the black and white certainty of a pregnancy test. It is a little known fact that thousands of "mutations" in the BRCA1 and BRCA2 genes have already been identified and characterized on a molecular level, adding much more complexity to the picture than the present level of medical knowledge can claim to convert into compelling statistical risk calculations and actionable treatment recommendations.
These mutations are technically known as gene polymorphisms which are naturally occurring variations of a gene present in more than 1% of the populations. It will come to many as a surprise to learn that some of these so-called "mutations" actually REDUCE the risk of breast cancer. BRCA1 variation K1 183R is related inversely to cancer risk, leading the authors of a review on the topic titled, "The case against BRCA1 and 2 testing," to conclude: "It seems that some polymorphisms may actually have a protective effect."[iii] Moreover, research exists showing that BRCA2 mutation carriers and non-carriers have similar breast cancer-specific rates of breast-cancer specific death,[iv] and that although BRCA positive patients have more frequently negative prognostic factors, their prognosis appears to be equal to or better than in patients with normal, also known as wild-type, BRCA.[v]
Another concerning blind spot in the framing of Jolie's decision is that approximately 70,000 breast cancers (31% of annual breast cancers diagnoses) are misdiagnosed by the vast breast cancer 'awareness' and treatment complex each year.[vi] These are not just so-called "zero stage" breast cancers such as Ductal Carcinoma In Situ (DCIS), which arguably should be reclassified as non-cancerous normal variations in breast morphology, but 50% are known as early-stage "invasive" breast cancers [view NEJM study video analysis here].