Tag Archives: Genetics

BRCA mutations made simple

As many of you already know, although breast and ovarian cancer are prevalent in my family, those of us that have been tested are not carriers of any known BRCA mutations. I had blood drawn for the BRACAnalysis as well as the BART and no mutations have been found. This doesn’t mean that there is not a mutation in my family, however. It is possible that a BRCA mutation hasn’t yet been identified or it exists on another gene, such as TP53 or PTEN.

To me, genetics is a fascinating topic. So much so that I started my college education majoring in it! I love information and love learning about what really makes us tick and what doesn’t. To get a good grasp of what BRCA mutations really mean, you could do tons of research online, in a library, or by harassing your genetics counselor, OR you could just read this really awesome post written by Teri Smieja, posted on Andrea’s blog: BraveBosom.com.

BRCA mutations made simple

“A good way to think of it is this:  You have an instruction manual for making a car (the instruction manual represents the DNA). The car represents the protein. The instructions for making the engine (the most important part of the car) might be on the last page – say page 9663 – of the instruction manual (this could translate to a mutation BRCA2 9663delGT).  If that part of the manual is deleted, then the engine will never be made and the car will never run. Thus, a deletion on the last page of the manual could be just as harmful as an earlier mutation (say, one that ruined the rest of the manual, or one that deleted instructions for the wheels).”

Make sure you stop by Andrea’s blog and read the full BRCA Mutations Made Simple post.