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NOTCH1
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Interpretation 2329
Tier 3
NOTCH1
Variants
NOTCH1 L2457V
Primary Sites
Thyroid
Tumor Types
Papillary Carcinoma
Interpretation

NOTCH1 is a transmembrane receptor, which plays a role in cell fate determination, growth, and survival. Somatic alterations in NOTCH1 are very rare in thyroid carcinomas and are identified in less than 1% of cases. NOTCH1 L2457V does not lie within any known functional domains of the NOTCH1 protein. L2457V has been identified in sequencing studies, but has not been biochemically characterized and therefore, its effect on protein function is unknown. The L2457V variant has been reported as a benign/likely benign germline variant in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/380420/). These results should be interpreted in the clinicopathologic context.

Citations
  1. Previs RA, Coleman RL, Harris AL, Sood AK. Molecular pathways: translational and therapeutic implications of the Notch signaling pathway in cancer. Clin Cancer Res. 2015 Mar 1;21(5):955-61.
  2. Wang NJ, et al. Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proc Natl Acad Sci U S A. 2011 Oct 25;108(43):17761-6.
  3. https://tcga-data.nci.nih.gov/docs/publications/tcga/?
  4. Uniprot.org
  5. Mullendore ME, et al. Ligand-dependent Notch signaling is involved in tumor initiation and tumor maintenance in pancreatic cancer. Clin Cancer Res. 2009 Apr 1;15(7):2291-301.
  6. Odejide O, et al. A targeted mutational landscape of angioimmunoblastic T-cell lymphoma. Blood. 2014 Feb 27;123(9):1293-6.
  7. De Keersmaecker K, et al. In vitro validation of gamma-secretase inhibitors alone or in combination with other anti-cancer drugs for the treatment of T-cell acute lymphoblastic leukemia. Haematologica. 2008. Apr;93(4):533-42.
  8. Cancer Genome Atlas Research Network.. Integrated genomic characterization of papillary thyroid carcinoma. Cell. 2014 Oct 23;159(3):676-90. doi: 10.1016/j.cell.2014.09.050. PubMed PMID: 25417114; PubMed Central PMCID: PMC4243044.
Last updated: 2019-02-22 18:02:37 UTC
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