BRCA1 protein illustration

photo credit: Protein BRCA1, by Emw, via Wikimedia Commons

 

Mary-Claire King, the University of Washington researcher who identified the first breast cancer genes, made a recommendation this week that all women age 30 and older be screened for the BRCA1 and BRCA2 genetic mutations. Currently, screening is reserved for those with family histories that match a certain profile.

Here are my layperson’s thoughts:

Yay! Early information is empowering…. The preventative options we have at the moment—bi-lateral mastectomy and prophylactic oophorectomy—are not fun. I hope to one day say, “Remember when our only options were barbaric mutilations?” For now, though, those barbaric mutilations lower cancer risk and save lives. For some women, those options are the right choice. For others, they are not. I don’t presume to recommend one or the other for anyone. What I do recommend is that a woman know her risks, so she can make informed decisions with her doctors.

Erg! What about…. I worry about the countless other factors that contribute to breast cancer. Cancers related to BRCA1 and BRCA2 are a small percentage of the whole. Receiving a clear (negative) screening result does not mean a woman will not have breast or ovarian cancer in her life. Hundreds of thousands will. Each year. Attention to personal health, screening, and education is still important, even with no mutation present.

Flippin’-flappin’-$%#$@^&^!…. I get upset when I hear people dismiss testing and the choices that come from it. It’s one thing when it’s Internet trolls, but quite another when it’s medical professionals. Case in point: this closing paragraph in the NPR article on King’s recommendation:

“Having the genetic mutation doesn’t mean you’re definitely going to get cancer,” says Dr. Olufunmilayo Olopade, a geneticist at the University of Chicago.

 

Women who find out they are carrying the mutations could get regular MRIs to try to catch any cancer early, when it’s most treatable, Olopade says. They could also do things to try to minimize their chances of getting cancer in the first place. “If you have children, breast-feed children, don’t gain weight and eat right — exercise. All those things modify the risk for mutation carriers.”

There is nothing false in Dr. Olopade’s statements, but they still make me squirm. I’m not a medical professional, but know a little bit about data and statistics. The current National Cancer Institute numbers for BRCA1 and BRCA2 carriers include a high of 65% risk for breast cancer and a high of 39% risk for ovarian cancer. Those are statistically significant, before I consider them in my own, anecdotal story.

My reply to Dr. Olopade is this:

I am a BRCA1 carrier. We discovered the mutation after I was diagnosed with breast cancer.

 

I have two sons, breastfed them both for just over a year, have kept my weight healthy, eat right, and exercise daily. That, apparently, did not “modify the risk” enough.

 

I am thankful we caught my cancer early and were able to treat it. Many times, that is not the case. While our current options are barbaric, I would rather live another 60 years without my breasts and ovaries, than die young with them intact. May we reach a day in my life that our options include more than those choices.

The National Cancer Institute at the National Institutes of Health says it the same, but in a way that doesn’t make me squirm.

It is also important to note that other characteristics of a particular woman can make her risk higher or lower than the average risks. These characteristics include her family history of breast, ovarian, and, possibly, other cancers; the specific mutation(s) she has inherited; and other risk factors, such as her reproductive history. However, none of these other factors is as strong as the effect of carrying a harmful BRCA1 or BRCA2 mutation.

That last sentence? It’s why, until we have even greater knowledge, I’m going to throw my support behind Mary-Claire King’s bold proposal.

 


 

Related Links:

JAMA | Population-Based Screening for BRCA1 and BRCA2  2014 Lasker Award (JAMA article)

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2 (PNAS abstract)

Researcher Urges Wider Genetic Screening For Breast Cancer (NPR story)

On A Day When Apple Sidesteps Healthcare Technology, Mary-Claire King Shows How To Confront It (Forbes article)

Lasker Winner Calls for More Genetic Testing for Cancer (NY Times article)

Our Era of Preventive Genetic Screening: Brought to You in Part by Mary-Claire King (Forbes article)