SOME FUN GENETICS

                                 Linda, thoroughly be-catted

Mice and humans are both mammals, but our lineages separated way back in the middle Mesozoic, even before T. rex and his buddies roamed the earth.  Given that much time, evolution has played hob with our respective genomes, developing new genes where such were required and eliminating genes that had become functionally useless.  Yet mice and men have many gene sequences in common – and until recently nobody knew why.  Well, smart folk at Fred Hutch seem to have cracked the puzzle.  These “ultra-conserved” gene sequences appear to contain “poison exons”, which are needed to allow genetic sequences to be expressed, or to make sure they aren’t.  Ultra-conserved genetic sequences are fairly common, it seems, and have been bothering evolutionary biologists for some time.

 All this has nothing much to do with ovarian cancer, but it is fun genetics and I thought you might be interested.

https://www.fredhutch.org/en/news/center-news/2020/01/bradley-poison-exon-essential.html?utm_source=newsletter&utm_medium=email&utm_campaign=hutchnewsjan2020 

SOME NEWS OUT OF FINLAND

                                       An early camping trip

                            Amazingly, that truck still exists

                                                        And runs!

Well, I don’t see this as some stupendous breakthrough, but I guess every little bit helps.  It appears that a research group in Finland has deduced just how OVCA cells – in women with BRCA1/2 mutations – avoid being attacked by the immune system.  As only about 20% of OVCA patients have these genetic failings, these Finnish results would appear to have limited applicability.  OVCA has been conspicuously resistant to immunotherapy; perhaps research like this eventually will tell us why, and what to do about it.  One can only hope.

https://www.sciencedaily.com/releases/2022/02/220211102631.htm 

ANOTHER REVIEW ARTICLE

                  What can I say?  I was a cheapskate

This is a rather simplistic review of the genetics of ovarian cancer, containing lots of stuff you already know.  Nevertheless it is worth reading, or at least skimming.  Always remember:  the majority of OVCA cases are not caused by inherited genetic mutations, but rather are caused by what I think of as simple bad luck.  Your “luck” gets lessened by increased age, lots of ovulation (no birth control pills, no pregnancies), hormone therapy for menopausal symptoms, and obesity.  If you don’t understand, read the article.  Please.

https://www.healthline.com/health/ovarian-cancer/is-ovarian-cancer-genetic 

 

A SIMPLE TEST FOR OVCA

                                    Guess where

Not much here, but what little there is certainly is encouraging.  Apparently some smart people in Austria have developed a means to detect OVCA using samples from simple surgical swabs.  Apparently they look for tell-tale signs that certain genes are “methylated”.  No doubt you recall that methylation is one aspect of the epigenetic processes that (mysteriously, at least to me) control which genes are suppressed and which are permitted to function.  Apparently there is something about various aspects of this methylation thing that points to the presence of ovarian cancer – and this can be determined from a simple swab!  As I said previously, not much about the nuts and bolts of this procedure, but it is good to know about it none the less.

https://www.newscientist.com/article/2306655-cervical-swabs-could-identify-people-at-high-risk-of-ovarian-cancer/

 

 

"SOCIALIZED MEDICINE?"

                               Linda and friend, Isle of Skye

In the past few years I have become increasingly persuaded that the future of medical care here in the United States should include a single-payer system, much like those in the UK and Canada.  I used to regard this sort of thing as “socialized medicine”, sure to cost a lot, create a bureaucratic nightmare, and in general deliver poor value for money.  Now, I’m not so sure.  I predicted that Obamacare was a step in that direction, and would fail.  Well, it certainly has been no flaming panacea – but it does seem to have helped, somewhat.  Thus, it Washington chooses to impose a Canada-like system on us, I won’t scream too loudly. 

However, it is well to consider counter-arguments.  The news item shown below – which concerns ovarian cancer – while anecdotal, is a case in point.  Read about this poor woman’s dilemma, and then see if you can come up with some alternatives.

https://vancouversun.com/opinion/columnists/daphne-bramham-desperate-cancer-specialist-shortage-meant-long-delays-even-before-covid 

MORE ON "THE PILL"

 Linda and her mom on our patio in Borrego Springs

I have written several times about the beneficial side effect of relying on birth control pills to prevent undesired pregnancy.  Here is statistical proof, courtesy of a massive study performed in the UK, that it really works.  OVCA deaths are down 17% in that country, over a five year period.  This apparently is much greater than the equivalent statistic for the rest of Western Europe (~7%).  Part of these declines is attributable to advances in treatment and early detection, which presumably are substantially equivalent all over Western Europe; the difference here is attributed to the greater use of oral contraception in the UK.  Differences in the use of hormone replacement also contribute.  Statistics for the U.S* are more in line with continental Europe than with the UK.  The practical message then seems to be:  pill, good; hormones, bad.

And so, all you parents with young, unmarried daughters – if you find birth control pills in her purse, she may have a legitimate prophylactic excuse.  Or not.    (That was an attempt at humor which probably fell flat.  Sorry.)

https://www.theguardian.com/society/2022/jan/26/uk-ovarian-cancer-death-rate-down-17-since-2017-study-suggests 

*I dug this fact out using the SEER statistical system, which I have written about several times previously.  It wasn’t easy.  In an heroic effort to be inclusive and digitally sophisticated the SEER people also have done - in my opinion - a very fine job of gumming up the works!.

GENETIC COUNCELLING

                                           Linda and my Mom

                                                          Probably 1984

This article discusses the importance of genetic counseling.  Under all but the most straightforward circumstances genetic counseling is useful, and some cases it is indispensable.  However, there aren’t enough genetic counselors to go around.  We need to produce more.  If you like biology, can tolerate math, and want to help people, consider the field.

My youngest daughter, Kristen, trained as a genetics counselor, and she would have been a good one.  However, several unfortunate tricks of fate forced her to abandon the field.  She still informs me when my ideas are cockeyed, so I guess her education wasn’t wasted.  Thanks for your help, Kristen.

https://www.onclive.com/view/genetic-counseling-for-ovarian-cancer