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NOTCH1 exon(s) 26-27 deletion
GeneNOTCH1
Variantdeletion
Transcript ID (GRCh37/hg19)ENST00000277541
Exon26-27
Genomic Coordinates (GRCh37/hg19)9:139399125-139399556, 9:139397634-139397782
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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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.

Last updated: 2019-01-22 18:25:31 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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