Linda and Kristen
Tucson, mid 1980s
When Linda was diagnosed with ovarian cancer about a decade
ago she was not offered genetic testing.
I believe that was because of how little was known about the genetics of
ovarian cancer at the time. Now, it is
recommended that every woman be offered BRCA testing upon diagnosis, whether or
not there is a family history of breast or ovarian cancer. This is partly because treatment and
prognosis in part are determined by BRCA state.
For instance, it appears certain that patients who are BRCA-positive
have longer remissions. If you have
breast or ovarian cancer in your familial history you should study this web
site.
(This must be a contender for the title of “most difficult
web address to type accurately” in the world.
I wonder what it would look like in Arabic.)
As I have discussed elsewhere, the more OVCA and genetics
are parsed, the murkier the connection becomes.
Apparently there are a dozen or so mutated genes that can contribute to
ovarian cancer; BRCA1 & 2 merely have the highest “penetrance”. (Rough definition: the higher the penetrance,
the higher the probability of coming down with the disease.)
If you study the web site you will find a pie diagram that
illustrates just how difficult this whole thing of OVCA/genesis turning out to
be. The diagram shows the fraction of
hereditary OVCA attributable to certain mutations – BRCA, for instance, is held
responsible for ~20%. The largest piece
of the pie - fully 60% - is labeled “unexplained familial risk”.
By the way – health insurance will cover BRCA testing.
Does Medicare cover the test? Maybe you can find out for those of us that have it. (see how I am passing on a research topic to you to keep you occupied?) Thanks in advance.
ReplyDeleteMore on BRCA testing:
ReplyDeletehttp://www.onclive.com/onclive-tv/dr-robert-coleman-on-brca-testing-in-ovarian-cancer
Now here is some breaking news. (Cynicism alert!)
ReplyDeletehttps://ovariancancernewstoday.com/2017/07/10/breast-cancer-ovarian-cancer-brca1-brca2-mutations-seen-as-risk-factors-study-shows/
ACOG stands for American College of Obstetricians and Gynecologists. ACOG recently issued a list of “guidelines” for testing for ovarian and breast cancer. These guidelines apply mainly to women who carry the BRCA1 and/or BRCA2 mutations, and they seem mainly aimed at “clinicians” (doctors, not we common folk). Nevertheless, this short video is interesting and easily understood. It only takes five minutes, so give it a listen
ReplyDeletehttp://www.medscape.com/viewarticle/885927
Whatever version of health care we end up with here in the United States, genetic testing for BRCA mutations ought to be available to all women. Do it when they’re babies. So says Dr. Myrl.