Posts Tagged genetic mutations

PARP sounds cooler than BRCA

If you’ve been following the news at all, you know that a new class of drugs called “PARP inhibitors” are being talked about like crazy. Not only have they been shown to improve outcomes drastically for women with breast cancer (and men with prostate cancer), but they improve outcomes specifically for women with BRCA mutations or triple-negative breast cancer (the most lethal type)!  85% of women with the BRCA 1 mutation have triple-negative breast cancer (as if the mutation weren’t enough), so this is a double plus for these women!

Of course, these results are still preliminary and more clinical trials will need to be done, but this is pretty exciting stuff, people.  I’m going to go out on a limb and say that this may end up being a breakthrough in the same realm as the HER-2/Herceptin amazingness.  I can’t be sure…but it seems promising.

Here’s how PARP inhibitors work (in really simple, non-medical, “people-who-don’t-know-that-much-about-science” speak):

All cells have systems for repairing broken DNA. PARP, BRCA1, and BRCA2 are all part of that system.  Basically, when DNA is broken, it calls up these guys and they come with their tool kits and hammer it back together.

Women with mutations in BRCA1 or BRCA2 have to rely much more heavily on PARP to fix the DNA in their cells, because BRCA1 or BRCA2 has a broken leg and can’t be of much help.

While all of this happens in normal cells, it also happens in cancer cells.  Normally, chemotherapy damages the DNA in cancer cells but then PARP comes in and fixes some of the damage, making chemotherapy less effective.  PARP inhibitors give the PARP repair truck a flat tire, preventing PARP from getting to the job to repair the DNA damage caused by chemotherapy.  So the cancer cells simply can’t figure out a way to repair themselves, and they die!  Woohoo! We like that.  Death to cancer cells.

So that’s pretty much it.  To read some real, actual medical information on PARP, here are some sweet links!

Peace out (to my readers, if there are any,  AND to cancer).

FORCE: PARP inhibitor research presented at 2009 ASCO Conference.

Reuters: New breast cancer drugs block cell repair enzyme

Science of PARP

ASCO: New Drug Class Promising in Breast Cancer

1 comment June 25, 2009

I’m famous!

Check out this story I’m featured in on ABC News.com!

http://abcnews.go.com/Health/CancerPreventionAndTreatment/story?id=6976928&page=1

Unfortunately, they didn’t include much information about why people decide to have these surgeries like the actual risk statistics and the statistics showing how much these surgeries cut your risk.  Also, living without a stomach and living without boobs are not exactly comparable..

My last complaint- did they have to call it “Going under the Knife”??  It makes it sound like we’re volunteering to lay on a butcher block, not having skilled surgeons operate on us!

All of that aside, it’s pretty cool to be in the news!

Add comment March 2, 2009

B, R, C, A, What??

A few years ago, my mother lost an ugly ugly battle with pancreatic cancer at the age of 49.  Shortly after, I lost my aunt, my mother’s sister, to metastatic breast cancer.  She was barely 40 and had fought the disease for almost six years.  Somewhere amidst all of this cancer and suffering, I found that I had inherited what is often referred to as “the breast cancer gene.”  

BRCA 2

It’s confusing, hard to pronounce, and it places my risk of developing breast cancer within my lifetime somewhere between 80 and 90%.  Practically a guarantee.  Not to mention the extremely elevated risk of ovarian cancer and a slightly elevated risk of the almost-always-deadly pancreatic. 

My life is now all about hereditary cancer.  Partially because my body leaves me no other options, and partially becuase I’ve chosen to make it that way.  My job is about cancer, my volunteer work, my writing, THIS BLOG…

The truth is, as I dig deeper and deeper into the world of BRCA mutations, I hear the same things over and over.  The most common, I’d say, is that women refer to their bodies as “ticking time bombs.”  I understand this comparison, and I’ve often felt like that myself.  But I’ve decided to refuse the notion that my body is against me.  I mean, in reality, we’re all ticking time bombs.  The movement of the hands is just a lot louder for some…

I’m not a doctor, or a researcher, or a genetic counselor.  But I’m hoping, maybe, that someone  like me will stumble upon this tiny page amid trillions, and will, for a moment,  gather strength from the meandering musings of a fellow mutant.

Add comment February 25, 2009


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