Novel Genetic Findings for Myeloproliferative Neoplasms

Dave Hinds is a Principal Scientist in Statistical Genetics.  

Editor’s note: This post has been edited from its original to reflect changes in 23andMe’s product.23andMe is passionate about research on a group of rare blood disorders called myeloproliferative neoplasms, or MPNs. Physicians who study these disorders consider them to be blood cancers, though individual prognoses can vary widely – some people have shortened life expectancy while others live for decades. We recently reached our goal of enrolling 1,000 individuals into our MPN Research Initiative and are excited about the discoveries that are possible with such an amazing program.Some of the first discoveries stemming from this initiative will be presented at the upcoming American Society of Human Genetics (ASHG) conference, this year hosted in San Francisco.23andMe scientist David Hinds* will present results from a web-based study aimed at discovering new genetic variants associated with MPNs. In the first nine months after launching our study, 800 individuals with an MPN diagnosis supplied DNA by simply spitting into a tube. Although larger groups of patients are usually needed to produce meaningful results, we were still able to replicate known associations between inherited variants in the JAK2 gene and forms of MPN known as “JAK2 V617F-positive MPN”.
Participate in Research The results presented in this post demonstrate that web-based participation can contribute to genetic research for rare diseases, which are usually difficult to study because so few individuals have them. 23andMe offers a variety of ways for people with and without rare diseases to contribute to research – all it takes is a little bit of spit and the willingness to answer web-based questionnaires. What you get back is the knowledge that you’ve personally helped move science forward. Find out how you can contribute to research. Not yet a customer? Visit our store!
The DNA from these same 800 individuals also allowed us to make new discoveries. Dr. Hinds will report a novel association between MPNs and a variant in the TERT gene, which codes for a protein called telomerase reverse transcriptase. Other variants in the TERT gene, which are highly correlated with the variant that we discovered, have been previously associated with a variety of cancers. This is an interesting finding because it suggests common biological pathways are involved in both MPNs and other cancers.These findings are just the first of many to come from our MPN research initiative. We now have the largest broadly genotyped MPN cohort in the world and are excited to continue delving into the data. We’ll be sure to keep you posted along the way!*This study is possible because of our collaborators and unpaid advisors to 23andMe’s MPN Scientific Advisory Board: – Dr. Jason R. Gotlib, Associate Professor at Stanford – Dr. Ruben A. Mesa, Director of the Acute and Chronic Leukemia Program and Chair of the Division of Hematology & Medical Oncology at the Mayo Clinic – Dr. James L. Zehnder, Associate Professor of Pathology and Medicine (Hematology) at StanfordAdditional members of the 23andMe Research Team also contributed to this work.  
  • Tom

    I like the following statement. This is an interesting finding because it suggests common biological pathways are involved in both MPN’S and other cancers as I mentioned that myself on this site earlier this year. I await further information in this area.

    Could you please list the TERT Gene Variants. As well as a list of the other cancers. Thanks.

    • BethannH

      Hi Tom,
      Thanks for your interest in the post. The TERT variant associated with MPNs is rs2853677. Variation in TERT has also been associated with prostate, breast, bladder and testicular cancer, and glioma.

  • Issie

    It’s so exciting that more is being learned and we may have more connections that can help others. I’m proud to be one of the participants in the study. Just sad that I have the qualifications to be a participant. Looking for our “purple band-aid”, with more quality of life.


  • Jennett Pearson

    I could have told them this, because in my father’s family we’ve had a variety of blood cancers which HAD to have come from the same gene. But it’s exciting to see them finding the root so that maybe ALL blood cancers can be cured by attacking the root problem.

  • Very exciting news. Will be waiting to hear about your discovery in November

  • Sharla

    Can I propose a potential research topic for MPNs? I would like to know how many have been exposed to Agent Orange, or had a parent who was exposed to Agent Orange. It would be interesting to see this pursued, since there are some people who have noticed this as a possible pattern.

  • seham

    What is the RSID for V617 in the JAK2 gene? (JAK2 V617F-positive MPN)

    • BethannH

      Hello seham,
      We do not currently report on the V617F acquired mutation. However, customers can access results for inherited variants that increase a person’s risk of developing “JAK2 V617F-positive MPN”, a form of MPN that is characterized by the presence of the V617F acquired mutation in the JAK2 gene. Please check out our MPN Preliminary Report for results:

    • BethannH

      Hello again seham,
      I should also add that the rsid for V617F is rs77375493, but we do not currently report on it.