Gene

NOTCH1

notch receptor 1

Explore in graph →CI-GENE-00017006HGNC:7881 ENSG00000148400 NCBI 4851 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (33)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–33 of 33 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
NOTCH1 Amplification2
(prognostic)	Malignant Colorectal NeoplasmCURATED_BROADER	Prognostic	B	Supports Poor Outcome	2	accepted

Cohorts

Alteration frequency by cohort (200)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved200 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Cutaneous Squamous Cell Carcinoma (UOW, Front Oncol 2022) cscc_ranson_2022	Skin Squamous Cell Carcinoma	Ssm

Literature

Linked publications (9)

25 per page, newest first.

pubmedPublishedShowing 1–9 of 9 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia.
· Blood · 2016 · PMID 26837699 · validated civic_curation pubmed
Recurrent mutations refine prognosis in chronic lymphocytic leukemia.
· Leukemia · 2015 · PMID 24943832 · validated civic_curation pubmed
Alterations of the Notch pathway in lung cancer.
· Proc Natl Acad Sci U S A · 2009 · PMID 20007775 · validated civic_curation pubmed
Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia.
· Blood · 2012 · PMID 22077063 · validated civic_curation pubmed

NOTCH1 Loss-of-function2
Bimiralisib	Head and Neck Squamous Cell Carcinoma	Predictive	B	Supports Sensitivity Response	3	submitted	EID13292 In a phase II, nonrandomized, single-arm trial (NCT03740100), 8 patients with recurrent/metastatic HNSCC harboring NOTCH1 mutations predicted to cause loss of function received bimiralisib after prior… (full text at CIViC) PMID 36124629 · Johnson et al., 2022 · Open in CIViC	civic
Porcupine Inhibitor WNT974	Head and Neck Squamous Cell Carcinoma	Predictive	D	Supports Sensitivity Response	2	accepted	EID1525 In an evaluation of 96 head and neck squamous cell carcinoma (HNSCC) cell lines, 31 were responsive to LGK974 (PORCN inhibitor). Of 40 cell lines (25 responsive, 15 non-responsive) that were exome seq… (full text at CIViC) PMID 24277854 · Liu et al., 2013 · Open in CIViC	civic

NOTCH1 Mutation9
(prognostic)	Chronic Lymphocytic Leukemia	Prognostic	A	Supports Poor Outcome	5	accepted	EID1538 In a study of 406 previously untreated CLL cases, a multivariate analysis indicated clonal NOTCH1 mutations (N=55) were significantly associated with reduced overall survival (HR: 1.5; 95%CI: 1.13-1.9… (full text at CIViC) PMID 26837699 · Nadeu et al., 2016 · Open in CIViC	civic
〃	Chronic Lymphocytic Leukemia	Prognostic	B	Does Not Support Poor Outcome	5	accepted	EID1486 In a multivariate analysis of 774 CLL patients, NOTCH1 mutations were not significantly correlated with shorter time to first treatment (HR=1.305; 95% CI=0.923-1.847). PMID 24943832 · Baliakas et al., 2015 · Open in CIViC	civic
〃	Mantle Cell Lymphoma	Prognostic	B	Supports Poor Outcome	3	accepted	EID494 14 out of 121 patient samples contained mutations in NOTCH1. Those with mutations had worse overall survival than wild-type (median OS, 1.43 years vs. 3.86 years). PMID 22210878 · Kridel et al., 2012 · Open in CIViC	civic
〃	Chronic Lymphocytic Leukemia	Prognostic	B	Supports Poor Outcome	2	accepted	EID1479 In the randomized UK LRF CCL4 phase 3 trial comparing first-line treatment with chlorambucil, fludarabine, or fludarabine plus cyclophosphamide, univariate analysis of patients with NOTCH1 mutations (… (full text at CIViC) PMID 23086750 · Oscier et al., 2013 · Open in CIViC	civic
〃	Mantle Cell Lymphoma	Prognostic	E	Supports Poor Outcome	4	submitted	EID11895 This study confirmed clinical associations between TP53 and NOTCH1 with poor outcome. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC	civic
(oncogenic)	Mantle Cell Lymphoma	Oncogenic	E	Supports Oncogenicity	4	submitted	EID11900 Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including NOTCH1. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC	civic
〃	Diffuse Large B-Cell LymphomaCURATED_BROADER	Oncogenic	E	Supports Oncogenicity	4	submitted	EID11970 This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC	civic
Prednisone	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Predictive	C	Supports Sensitivity Response	—	submitted	EID2692 In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC	civic
〃	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Predictive	C	Supports Sensitivity Response	—	submitted	EID2693 In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC) PMID 16614245 · Breit et al., 2006 · Open in CIViC	civic