Leukemia, Myelomonocytic, Juvenile study with AMPLICON, Bisulfite-Seq + 3 more data on dbGaP (220 participants)

phs002504 — UCSF Database for the Advancement of JMML - Integration of Metadata with    Omic Data

<p>Juvenile myelomonocytic leukemia (JMML) is a rare and frequently fatal myeloproliferative/myelodysplastic disorder of early childhood with an estimated incidence of 1.2 cases per million. It is associated with a spectrum of diverse outcomes ranging from spontaneous resolution in rare patients to transformation to acute myeloid leukemia in others. The overwhelming majority of JMML patients (~95%) will harbor mutations in canonical Ras pathway genes, including <i><a href="https://www.ncbi.nlm.nih.gov/gene/4763">NF1</a></i>, <i><a href="https://www.ncbi.nlm.nih.gov/gene/4893">NRAS</a></i>, <i><a href="https://www.ncbi.nlm.nih.gov/gene/3845">KRAS</a></i>, <i><a href="https://www.ncbi.nlm.nih.gov/gene/5781">PTPN11</a></i>, and <i><a href="https://www.ncbi.nlm.nih.gov/gene/867">CBL</a></i>. As Ras proteins are mutated in more than 30% of human cancers, the information gleaned from the study of JMML has provided insights into Ras signaling in cancer as well as a group of congenital diseases with tumor predispositions known as the “Rasopathies”. While oncogenic Ras is one of the most common mutations in human cancer, it remains one of the most vexing targets for efficacious therapy.</p><p> </p><div> </div><div>To better understand this disease, a JMML tissue bank was established at UCSF that allows for consenting of subjects, biobanking of tissue and collection of follow up data from patients both locally and at other institutions. Through the collection and analysis of specimens, knowledge about the genetic, epigenetic, and biochemical basis of JMML has been gained. This integrated database will enable future JMML research, and importantly, additional Ras/MAPK pathway research by depositing linked, processed data to well annotated anonymized patients in an easily accessible online database </div><br><p></p>