Understanding genetics, genomics, and their utility in prostate cancer


Our friends at UroToday have just published a perfectly lovely lecture on this topic given by Prof. Lenny Gomella at the recent annual meeting of the Large Urology Group Practice Association (LUGPA).

Prof. Gomella’s lecture (with slides) was obviously developed very specifically as an educational lecture for his urology colleagues, but it is actually highly informative for the interested prostate cancer patient and prostate cancer advocate too, and (from the point of view of prostate cancer support group leaders) might make a lovely “free lecture” at upcoming support group meetings if you have access to a video screen.

We recommend this lecture to anyone who is trying to understand how genetics and genomics is currently and will in the future affect the screening, diagnosis, prognosis, and actual management of prostate cancer.

You do have to be a member of UroToday to be able to watch this lecture — but membership of the site is free to anyone who is interested. You can sign up here.

7 Responses

  1. Excellent presentation — I agree with Sitemaster. Sophisticated enough to present to a medical audience, albeit dumbed down enough to allow most of us to understand. We frequently discuss many of these topics in our virtual groups.

    Just one addition — while BRCA mutations are predominantly germline (inherited) they can be developed somatically — by one’s own tumor. So even if you do not have a germline mutation, you can still be a candidate for a PARP inhibitor.

  2. Dear Rick:

    Just for clarity … Do you have any data indicating the percentage of men with metastatic prostate cancer who develop a somatic BRCA1/2 mutation even though they are germline-negative for the BRCA genes? My understanding is that this is actually very rare.

  3. No I don’t have stats – not sure they exist. Agreed, it is rare but can happen. Anecdotally I have experience with a man who tested germline negative but somatically positive for a mutation eligible for PARP inhibitor treatment.

  4. Genetic breakdown in metastases is a significant factor.

    Dan et al. found that 19/150 (12.7%) of metastases had BRCA2 loss, and that 8 of the 19 (42%%) had germline mutations, whereas the other 11 (58%) had somatic-only mutations.

    In one study of 10 metastases from men who were diagnosed with Gleason scores of 8 to 10, there were three BRCA2 biallelic somatic mutations, and only one of them had a germline biallelic mutation.

    But BRCA2 mutations are not the only target for PARP inhibitors. There are other DNA-repair mutations (somatic and germline) that may benefit as well, especially ATM. Dan et al. found that 34/150 (23%) had DNA-repair mutations that may be sensitive to PARP inhibitors. In addition, they found that three out of four metastases had mutations in DNA mismatch-repair genes which had been found to be sensitive to Keytruda therapy.

  5. Thanks for the details Allen, I appreciate it. That was roughly what I was remembering but I no longer had any idea when or where I had seen the data. (In my paid employment, yesterday alone, I was doing work on more than half a dozen other disease states that weren’t even cancers. It can rapidly become hard to remember exactly what I saw and where!)

    :O)

  6. Thanks for doing the heavy lifting, Alan!

  7. Thanks for this. I am less than incompetent at anything dealing with genetics, starting with Gregor Mendel’s bean hobby. I’m also statistically challenged. I signed on and will watch later.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: