WCMC logo
PMKB
  • WCMC logoPMKB
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity
  • Login
SETD2
  • Information
  • View History
  • Pending Review
Interpretation 16
Tier 1
SETD2
Variants
SETD2 any nonsense
SETD2 any frameshift
SETD2 any missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
T Lymphoblastic Leukemia/Lymphoma
Interpretation

SETD2 encodes a H3K36 trimethylase and loss of function mutations (missense, nonsense and frameshift mutations) have been reported in approximately 10% of acute myeloid leukemia, and 10% of acute lymphoblastic leukemia, including acute early T cell precursor acute lymphoblastic leukemia. SETD2 mutations appear to be enriched among cases of acute leukemia with rearrangements of MLL. Coexistence of two mutations in SETD2 has been described and together with recurrent loss of function mutations suggest this gene is acts as a tumor suppressor. The presence of loss of function mutations in SETD2 has been associated with global loss of H3K36me3. In addition, the presence of SETD2 mutations may be associated with therapy resistance.

Citations
  1. Zhu X, et al. Identification of functional cooperative mutations of SETD2 in human acute leukemia. Nat Genet 2014;46(3):287-93
  2. Mar BG, et al. Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia. Nat Commun 2014;5():3469
  3. Zhang J, et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 2012;481(7380):157-63
Last updated: 2016-06-04 21:31:38 UTC
PMKB Bot
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity

Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


HELP
User Guide
Video Tutorial
INFO
About
Latest
API
Twitter
CONTACT US
Contact

Englander Institute for Precision Medicine
© Weill Cornell Medicine | Version 1.7.2Privacy PolicyTerms of use