Archives For Genetics

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Family Update:

We are celebrating the two-year anniversary since my daughter’s last cancer. She is following a more frequent version of the Toronto Protocol (the go-to surveillance program for Li-Fraumeni Syndrome). We ride the rollercoaster every three months – so far so good. She survived her recent 10-day vision quest in the mountains with the requisite three-day fast and the close-call bear encounter with the revelation that she will grow old. I cried. Continue Reading…

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In March, like millions of people, I sat enrapt watching the three-night premier of the documentary by Ken Burns, “Cancer: The Emperor of All Maladies.” As you know cancer is very personal to me. I have “battled” and “survived” the diagnoses of multiple tumors for more than twenty years. I am not a doctor or scientist but a “career” cancer patient. I have had different bilateral breast cancers, pancreatic Continue Reading…

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The Ken Burns Event

Just like many millions of people, I spent the past three nights watching Ken Burns’ Cancer: The Emperor of All Maladies. This has been something I have been very excited about, have talked about, blogged about, posted, and tweeted since I learned that the Pulitzer-prize winning book by Dr. Siddhartha Mukherjee was going to be made into a documentary.

My impressions:

First of all, in my history and devotion to PBS, I have never seen as many sponsors listed before the Continue Reading…

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I just returned home from the Li-Fraumeni Syndrome conference held in Boston this past weekend. Besides the joy of getting together with friends that I know and love and meeting new people, I listened enrapt to the researchers who presented their updates on studying the DNA of humans and even elephants.

Did you know that elephants don’t get cancer? Apparently they have evolved to have 23 pairs of the p53 gene with is the major tumor suppressor of the genome. They have ‘super suppression’ of cancer. Their DNA takes care of what their immune system cannot. This phenomenon has given rise to “Peto’s Paradox’ and is similar in whales. The paradox is that much larger mammals, having many more cells that can mutate, would be expected to have even more incidence of cancer, yet they don’t. They also reproduce less frequently, which may have offered them some protection over the course of millennia. (Kind of makes you wonder if we will eventually become extinct from cancer and our rate of reproduction.)

(see: http://www.nature.com/news/massive-animals-may-hold-secrets-of-cancer-suppression-1.12258)

Dr. Josh Schiffman of the Huntsman Cancer Center in Salt Lake City Utah, who spoke at the conference, is studying the DNA of Asian elephants, and specifically this abundance of p53. He is asking the question: how this may help in correcting the mutated genes and the possibilities for cancer prevention in humans. As a wonk, nerd or whatever, I thoroughly enjoyed the presentations on retrogenes, theories on chromothripsis (see: http://www.nature.com/nature/journal/v470/n7335/fig_tab/470476a_F1.html), telomeres and another new term, ‘sonic hedge hog’ mutations. Continue Reading…