{"cache":{"posts_f30bc_036cd":{"__typename":"RootQueryToPostConnection","nodes":[{"__typename":"Post","id":"cG9zdDoyNDE2OA==","databaseId":24168,"featuredImage":null,"author":null,"date":"2016-08-09T06:00:53","uri":"/articles/new-genetic-findings-for-rare-blood-cancers","title_b28e9_bf21a":"New Genetic Findings for Rare Blood Cancers","slug":"new-genetic-findings-for-rare-blood-cancers","categories_3cd3e_bf21a":{"__typename":"PostToCategoryConnection","edges":[{"__typename":"PostToCategoryConnectionEdge","node":{"__typename":"Category","id":"dGVybToxMzQ0","name":"Research","slug":"23andme-research","uri":"/category/23andme-research","seo":{"__typename":"TaxonomySEO","title":"Research Archives - 23andMe Blog","opengraphTitle":"Research Archives","metaDesc":"23andMe research unique research model combines genetic and phenotypic information in what is among the largest databases of its kind.","opengraphDescription":"23andMe research unique research model combines genetic and phenotypic information in what is among the largest databases of its kind.","fullHead":"\n\n\n\n\n\n\n\n\n\n\t\n\t\n\t\n\n\n\n"}}}]},"imageOptions":{"__typename":"Post_Imageoptions","featuredImageSquare":{"__typename":"MediaItem","id":"cG9zdDozMTE0","altText":"","mediaDetails":{"__typename":"MediaDetails","width":350,"height":260,"sizes_cad4b_bf21a":[{"__typename":"MediaSize","name":"thumbnail","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodcells-150x150.jpg"},{"__typename":"MediaSize","name":"medium","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodcells-300x223.jpg"},{"__typename":"MediaSize","name":"square_sm","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodcells-271x260.jpg"},{"__typename":"MediaSize","name":"wide_sm","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodcells-271x149.jpg"},{"__typename":"MediaSize","name":"wide_md","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodcells-350x204.jpg"}]},"sourceUrl_772ce_bf21a":"https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodcells.jpg","mediaItemUrl":"https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodcells.jpg","title_b28e9_bf21a":"bloodcells"},"singleTemplateFeaturedImage":null},"content_b28e9_bf21a":"

A research study spearheaded by 23andMe has uncovered new genetic associations for a group of rare $\"bloodcells\"$ blood cancers offering insights into these sometimes fatal conditions.\n

\nPublished in the journal Blood earlier this summer, the research identified variants in seven genes associated with myeloprofliferative neoplasms, or MPNs, a group of rare blood disorders that occur when bone marrow produces too many red or white blood cells, or platelets. Most forms of MPN are cancerous and all types are rare, affecting fewer than 100,000 people in the United States.

“This work represents a significant addition to our understanding of the genetic predispositions for classic myeloproliferative neoplasms,” said David Hinds, lead author of the study and 23andMe Principal Scientist and Statistical Geneticist. “And these insights were fueled by the participation of members of our MPN Research Community.”\n

MPN Researchers

\nWorking with some of the leading MPN researchers in the world – Jason Gotlib and James L. Zehnder at Stanford, Ruben Mesa at the Mayo Clinic, and Marie Nguyen at the University of Michigan – 23andMe launched a community to study the genetics of MPN in 2011. The goal was to enroll 1,000 people with MPN into the research community, but within a year more than 1,700 people had joined and consented to participate in research.

The study identified new genetic associations with MPNs that are inherited, germline mutations, which means that you were born with them. The study included data from more than 250,000 23andMe customers who consented to research, 726 of whom had some form of MPN and another 497 of whom are carriers of the V617F mutation (see below).

The scientists found variants on or near seven genes – TERT, SH2B3, TET2, ATM, CHEK2, PINT, and GFI1B – associated with MPN. These associations may also help in learning more about the underlying biology of the disease, for instance variants in the TERT gene are associated with certain kinds of tumors and increased red blood cell counts. The ATM gene is involved in controlling the rate at which cells grow and divide, and scientists believe that the TET2 gene is important in the production of blood cells from stem cells.

The study also found that variants in those genes are also associated with the JAK2 V617F somatic mutation – a mutation that occurs after birth – that has previously been associated with developing MPNs.

Inherited v. Somatic Mutations

Nearly all people with the polycythemia vera form of MPN have this mutation while many of those with the other two forms of MPN – essential thrombocythemia and myelofibrosis – also have it.

What is also interesting about this study is that researchers were able to use inexpensive genotyping SNP arrays to detect not just inherited, germline mutations, but also the somatic V617F mutation. They were also able to detect the V617F mutation in individuals who had not reported having an MPN.

Both inherited and somatic mutations contribute to the development of MPN and something called “age-related clonal hematopoiesis,” which refers to a stem cell in the bone marrow making copy after copy of itself. Sometimes during the copying process the cell acquires a new somatic mutation. Researchers have found that in the development of different blood cells, these somatic mutations become more frequent as people age and can sometimes lead to blood cancer.\n

\nThe researchers believe that custom SNP arrays, such as the one used by 23andMe, could also be used to look for additional somatic mutations linked to other blood disorders and cancers.\n

\nThe study can be found in the journal Blood.

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Editor’s note: This post has been edited from its original to reflect changes in 23andMe’s product.

We’re posting a story about one of the participants in 23andMe’s $\"Esteban$
\n

One day in April of 2011, Esteban Zapiain’s life changed forever.

“No one ever wants to hear their doctor say, ‘You have cancer,’” said Esteban.

The 62-year-old retired school technology director learned that day that he had something called Chronic Myeloid Leukemia, or CML. The rare blood cancer is one of a group of similar cancers known as myeloproliferative neoplasms or MPNs. These cancers occur due to the excessive production of “myeloid” blood cells in the bone marrow.

For Esteban the diagnosis was frightening, but it also drove him to act, and he joined 23andMe’s MPN Research Initiative.

“My motivation is to help find the causes and connections between those of us diagnosed and those yet to be diagnosed,” said Esteban.

There is a strong genetic component for these rare cancers and 23andMe hopes to use the data generated by our research initiative to better understand the causes and find new treatments for these diseases. While Esteban is hopeful for new discoveries from the research, he said joining has its own rewards. $\"Esteban$

“Participating in this initiative was an integral part of my developing a coping strategy and positive attitude,” he said. “I refuse to let cancer defeat me. I cannot, and will not, live my life in fear. I will live for the joy of breathing, seeing, hearing, touching, tasting and feeling.”

Since starting the initiative about two years ago, 23andMe has recruited almost 1500 people with one of these rare blood cancers. 23andMe’s MPN Research Initiative now has the world’s largest group of genotyped MPN patients. Within months of enrolling patients, 23andMe began reporting out new findings from its research and we continue to work on new discoveries while enrolling more participants. (Enrollment is free for MPN patients.)

Many people with one of these rare cancers also have an acquired genetic mutation in the JAK2 gene called V617F. This mutation arises during the course of a person’s life as opposed to being a change in DNA that someone is born with. The JAK2 V617F mutation is currently used as a diagnostic marker of disease and numerous companies are developing drugs to inhibit the activity of the JAK2 protein, though it is too early to tell if they will be successful.

Often people with one of these types of cancers don’t even know they have it. The symptoms are such that cancer can go undetected for years.

MPN Research Initiative $\"research_springboard\"$

Since our founding 23andMe has offered individuals the opportunity to explore their own DNA while also allowing them to contribute to groundbreaking genetic research.

Our work studying MPN is part of that mission. In the short time since launching the study we’ve enrolled almost 1,500 people with one of these rare blood cancers and are already gathering insights into the genetics of the disease. We’ve replicated and identified new risk factors for MPNs.

In Esteban’s case, he said he wouldn’t have known he had cancer if it hadn’t been for the fact that he regularly donates blood. At one point, he was contacted by the blood bank informing him that he should talk to his doctor because of what they noticed in screening his blood. It’s profound, said Esteban that something he did to help potentially save someone else’s life, may have saved his own.

Since his diagnosis, Esteban and his doctors have been able to keep his cancer in check with new medication. He’s healthy and engaged. Esteban is the director of a mariachi band for which he plays the violin. He’s also appeared in several musical productions, including most recently a community production of Fiddler on the Roof, which won several awards.

And he continues to be positive. He’s been using 23andMe to delve into his own ancestry. Although his parents had always said he was 100 percent Mexican, his surname is Basque and Esteban has always wondered about his ancestry. Looking at his 23andMe results, he learned of his mixed ancestry that includes Native ancestry from South America and paternal ancestry that traces to the Berbers.

“My mother’s mother used to say, ‘The world’s big, we all fit,’” he said.

His decision to join the research initiative was about more than simply healing himself. In explaining his motivation, Esteban mentions something his parish priest says about little drops of water making up the ocean.

“Funny, but spit is much like a drop of water, together we are stronger than anyone of us alone,” he said.

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$\"\"$

Dr. Ross Levine

Last year 23andMe launched a Myeloproliferative Neoplasms Research Initiative to study this group of rare blood cancers. We are now very close to reaching our goal of enrolling 1,000 patients and are encouraged by what we’ve already learned.

We’re also humbled that another star in the field of MPN research, Dr. Ross Levine, has joined our MPN Research Initiative as a research collaborator.

As with our other research communities, reaching a recruitment goal isn’t just about a number: It is about creating patient-powered research that allows participants to leverage their data and make a contribution to hastening discoveries about the causes and treatments for diseases.

We’ve already made some promising findings, including a novel finding that we’ll report in November at the 62nd annual American Society of Human Genetics meeting being held in San Francisco.

23andMe researchers replicated an association between an inherited variation in the JAK2 gene and rare blood cancers linked to another JAK2 mutation that can appear later in life. To see more go to “Rapid replication of research in MPN” on our research findings page.

Encouraged by the results, 23andMe’s Dr. Kim Barnholt, the project manager of our MPN research community, had a message for all the people who’ve joined us to participate in the research.

“Thank you for your support and help to move this research forward at such an accelerated speed,” Kim said. “We are in the final days of study recruitment so please help spread the word to anyone who might be interested in this free genotyping and research opportunity before the enrollment period ends.”

This week Kim also shared the news about Dr. Levine.

A leading MPN physician-scientist at Memorial Sloan-Kettering Cancer Center in New York, Dr. Levine researches the genetic basis of certain types of blood cancers, focusing primarily on the role of genetic variants involved in the development of MPNs and acute myeloid leukemia (AML).

As a fellow working with Gary Gilliland at Dana Farber Cancer Institute, Dr. Levine played a critical role in identifying the JAK2 V617F and other molecular abnormalities in patients with MPNs. His work in this area facilitated the development of the first FDA-approved drug to treat MPNs. Dr. Levine joins our current panel of MPN experts, including Dr. Jason Gotlib, Dr. James Zehnder, and Dr. Ruben Mesa, in a collaborative effort to guide the research discovery process and future project directions.

Stay tuned for many important research announcements throughout the fall, including updates on surveys, information about new research findings, and opportunities for more ways to get involved. As always, we are grateful for your partnership in this work and look forward to continuing with you on this journey.

– An interview with Dr. Levine

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$\"Ashley$

\nby Ashley Gould
\nVice President Corporate Development & Chief Legal Officer, 23andMe\n

\nLinda Avey and Anne Wojcicki created 23andMe based on a number of visions. They described one of these to me in early 2007, capturing my imagination and playing a large role in my decision to become a member of the 23andMe team. This vision was of a web-based, patient-driven method of conducting research that removes physical boundaries and accelerates the search for answers.

The company has already made this vision a reality by launching Parkinson’s and Sarcoma Communities with participant data streaming in daily from dedicated surveys.

I am privileged and excited to announce that 23andMe is launching a Myeloproliferative Neoplasms (MPN) Community for patients with polycythemia vera (PV), essential thrombocythemia (ET), myelofibrosis (primary, post-PV and post-ET myelofibrosis), chronic myelogenous leukemia (CML), mastocytosis, and hypereosinophilic syndrome (HES) / related eosinophil disorders.

This group of rare blood cancers affects production of blood cells in the bone marrow and has no known cure except for blood or marrow transplantation.

My father, Harvey Gould, is now in his 11^thyear living with a diagnosis of primary myelofibrosis (PMF), a type of MPN in which the bone marrow makes abnormal blood cells and is replaced by increasing amounts of fibrous scar tissue over time. He is one of a relatively small group of PMF patients in the United States.

A study by the Mayo Clinic reported an incidence of 1.46 per 100,000 persons (1), and a prevalence of 30,000 patients nationwide. It’s also likely that some individuals don’t even know they have the disease because only highly trained specialists can diagnose it. The challenging nature of the disease, low incidence rate, and perhaps under-familiarity with the disease may partly explain why significant resources have not been applied towards identifying both inherited and acquired causes of myelofibrosis or towards development of effective therapies for this chronic and debilitating disease.

In 2005, several groups identified a mutation in the gene JAK2, referred to as JAK2 V617F in several MPNs. It is found in approximately 95% of patients with PV, and 50-60% of patients with ET and PMF. The JAK2 protein is a signaling protein within cells; when JAK2 is mutated, it contributes to increased signaling in cells and abnormal cell proliferation, a hallmark of these blood cancers. A number of clinical trials are now in progress with JAK inhibitors targeting the JAK2 protein and related signaling abnormalities in cells.

These trials, now mostly in patients with myelofibrosis, are listed at www.clinicaltrials.gov (search term “myelofibrosis” and “JAK2”). These investigational drugs have demonstrated substantial activity shrinking patient spleen size and improving symptoms. These JAK inhibitors have the potential to be the first major class of drugs approved for myelofibrosis. We’re looking to gather valuable information that might be helpful to researchers who are studying these diseases and inspire others to join in.\n

$\"Ashley$

\nI know from following my father’s struggles that treating myelofibrosis is more of an art than a science, even with highly skilled physicians involved. For more than four years, the drug imatinib (Gleevec ®) seemed to be helping, and then it simply stopped working. Why did it work at all when it does not work for most myelofibrosis patients? Why did it suddenly stop being effective?\n

\nA few years ago, while in Ireland, my father collapsed when his hemoglobin suddenly dropped from 13.4 g/dL (almost normal) to 5.4 g/dL (a crisis level). He received twelve units of blood on seven separate days over the course of three weeks, plus another two units after he was able to return to the States. This spurred my father to write to the Taoiseach (Irish Prime Minister), seeking recognition that he’d become a full-blooded Irishman — his Jewish heritage notwithstanding. (See his letter to the Taoiseach, correspondence from various offices in the Irish government, and the final verdict from the Tanaiste).\n

\nWhile my father’s gift for humor has helped us all cope, we still have many unanswered questions stemming from his experience. If we knew more about the genetic components of the disease, would researchers be able to find causes and cures? Could doctors better anticipate the progression of the disease? Could doctors better tailor drugs to their patients? Responses to these questions remain unknown for many of the myeloproliferative neoplasms. It’s our search for answers that has lead to the formation of 23andMe’s MPN Community.

We are honored to welcome Drs. Jason Gotlib and James Zehnder from the Stanford University School of Medicine and Stanford Cancer Center, as expert advisors and research collaborators in this effort. Dr. Gotlib brings his experience in clinical hematology and leadership in numerous phase I/II trials of novel therapies for MPNs. Dr. Zehnder, Professor in the Division of Hematology and Department of Pathology, contributes expertise in the realm of MPN molecular diagnostics. Their complementary skill sets will be an asset to the 23andMe program and MPN research efforts.

atch the video below to learn more about my father’s story and help by joining our research community.

Please note: 23andMe filmed this video when we planned to launch a more narrowly focused Myelofibrosis Community. Based upon valuable input from our scientific advisory team, 23andMe has since decided to expand the scope of our community to include all myeloproliferative neoplasms, including myelofibrosis (primary, post-PV, and post-ET myelofibrosis), polycythemia vera (PV), essential thrombocythemia (ET), CML, mastocytosis, as well as hypereosinophilic syndrome (HES) and related eosinophil disorders. \n

\nOur initial goal is to enroll approximately 1,000 patients diagnosed with a spectrum of myeloproliferative neoplasms who consent to participate in our research and who agree to complete surveys about their experiences. Patients will be asked to provide a sample of saliva (kits send to the patient’s address) to test their DNA for potential inherited predispositions to MPNs, and to assess whether the DNA results correlate with certain survey findings. As our MPN Community page describes in more detail, participants will receive complimentary access to 23andMe’s full Personal Genome Service ®. If you are someone who has been diagnosed with a myeloproliferative neoplasm, follow this link to learn more about joining our MPN Research Community and sign up.

If you know someone who you think might meet the criteria, please share this information with them.

If you are not a patient with myelofibrosis or other MPN diagnosis, you can still help by becoming a 23andMe customer and opting in to participate in our 23andWe research program. Having genetic information for generally healthy individuals plays an important role in research as well. Everyone has the opportunity to participate and support research that can lead to new treatments and possible cures.

(1) Mesa R, Silverstein M, Jacobson, Wollan P, Tefferi A. Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: an Olmsted county study, 1976-1995.

Gleevec ® is the trademark of Novartis Pharmaceuticals Corporation. 23andMe and Personal Genome Service are trademarks of 23andMe.

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