Carolyn and Linda
Sand spit near Pt. Townsend
Pretty windy, I suspect
I have neglected this blog for the past week or so. Linda’s sister Carolyn was visiting and I
felt justified in goofing off. Together
with Linda’s very good friend Florence, we drove my indomitable jeep up to Twin
Lakes in the North Cascades, east of Mt. Baker.
Bright sunshine, glorious scenery, and not a bug in sight! Thank you, Lord!
But now
Carolyn is gone, and my excuses disappeared with her. Fortunately, the NY Times furnishes some interesting material, part of which I will
discuss now.
Well, to get
the thick biology out of the way, it appears that scientists at Cambridge
University (the one in U.K.) have found proof that mutation of a third gene,
PALB2 by name, contributes to susceptibility to breast cancer. “Third”, because BRCA1 and BRCA2 already are
well understood to be bad actors in the breast cancer field (also ovarian, as
you probably already know). The BRCAs
are “double strand repair genes”, which means that they code for proteins that
stitch the DNA molecule back together when, during cell division, it
incorrectly breaks in two. PALB2 seems
to contribute to this process, in ways that I don’t understand. I wonder if this new gene also is important
in ovarian cancer.
An interesting
tidbit: men get breast cancer, too, although not often – and the BRCAs and
PALB2 are contributing factors.
And then, at
the end of the article arfrives the almost inevitable statement that screening for
BRCA and PALB mutations in “normal” women is not recommended, although it is for
women with a well defined family history of this disease. The stats for breast-cancer probability in
mutation-carriers quoted in the article make this a no-brainer. It is just too bad that there isn’t enough
wealth sloshing around so that screening the general population would be
feasible. But, heck, if we spent that
much money on the war on cancer there wouldn’t be enough left over to fight the
war on terror, or any other wars, for that matter. That would be a hell of a fix!
You know, this blog commenting thing does not work right. Several times now I have written comments only to have them deleted when I sign in.
ReplyDeleteI was saying this is very interesting and exciting news!!! And now I want mom and the rest of us to be tested for this one. She tested negative for the three most common mutations at the time, but I never believed we don't have genetic susceptibility, with that many people affected. Cool!
Well, this one got through just fine. Funny.
DeleteBut, really…. There ought to be an affordable test for BRCA mutations (and PALB2: see blog “Cancer Science Marches On”). There are several points to make here. First, the cost of the BRCA test is high partly because the outfit that developed it has it under patent, and is attempting to recoup its costs and make a profit. Deny them that right and they will go out of business, to the detriment of us all. Second, the test does cost real money: it requires sequencing several parts of the human genome, which – although much easier and cheaper than a decade ago – is still a non-trivial operation. So, should the government take over and, say, routinely test all girls when they hit puberty? That would cost so much that we couldn’t afford battleships or subsidies to rich farmers and corporations! It is a hell of a note to find something so valuable that we simply cannot afford. “Single-payer medicine” would be of vanishingly little help; we (the people) still would have to pay for it somehow. For women with a family history of breast/ovarian cancer this is a no-brainer: have the test (and sue your insurance company if they refuse to pay for it.) Otherwise, I guess we have to hope that technology evolves to the point that genome sequencing is as easy and cheap as mammograms. And that ain’t just over the horizon/.
ReplyDelete