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NOTCH1
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Interpretation 2286
Tier 3
NOTCH1
Variants
NOTCH1 exon(s) 26-27 deletion
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

NOTCH1 is a transmembrane receptor, which plays a role in cell fate determination, growth, and survival. Notch signaling has been demonstrated to play a role in lung development and lung carcinogenesis. Notch activity is counteracted by NUMB. Gain-of-function mutations of NOTCH1 have been identified in approximately 10% of patients with non-small cell lung carcinoma (NSCLC). In addition, loss-of-function mutations in NUMB that allow for increased NOTCH1 activity have been observed in approximately 30% of NSCLC patients. Studies have observed that increased NOTCH1 expression is associated with a poor prognosis in patients with lung adenocarcinoma. The NOTCH1 intronic deletion variant (NM_017617:g.139397792_139397795del) is located nine base pairs downstream of exon 27. While the variant is located in close proximity to an exon-intron junction, a potential effect on gene splicing is unknown. These results should be interpreted in the clinical context.

Citations
  1. Chen CY, Chen YY, Hsieh MS, Ho CC, Chen KY, Shih JY, Yu CJ. Expression of
  2. Notch Gene and Its Impact on Survival of Patients with Resectable Non-small Cell
  3. Lung Cancer. J Cancer. 2017 May 11;8(7):1292-1300.
  4. 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.
  5. Westhoff B, Colaluca IN, D'Ario G, Donzelli M, Tosoni D, Volorio S, Pelosi G,
  6. Spaggiari L, Mazzarol G, Viale G, Pece S, Di Fiore PP. Alterations of the Notch
  7. pathway in lung cancer. Proc Natl Acad Sci U S A. 2009 Dec 29;106(52):22293-8.
  8. Zou B, Zhou XL, Lai SQ, Liu JC. Notch signaling and non-small cell lung
  9. cancer. Oncol Lett. 2018 Mar;15(3):3415-3421.
Last updated: 2019-01-22 18:25:31 UTC
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