NOTCH1 Mutation

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Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Chronic Lymphocytic Leukemia3
NOTCH1 Mutation	(prognostic)	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
NOTCH1 Mutation	(prognostic)	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

Molecular profile

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

Chronic Lymphocytic Leukemia3

NOTCH1 Mutation

(prognostic)

Prognostic

Supports Poor Outcome

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

NOTCH1 Mutation

(prognostic)

Prognostic

Supports Poor Outcome

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

Diffuse Large B-Cell Lymphoma1
NOTCH1 Mutation	(oncogenic)	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

Diffuse Large B-Cell Lymphoma1

NOTCH1 Mutation

(oncogenic)

Oncogenic

Supports Oncogenicity

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

Mantle Cell Lymphoma3
NOTCH1 Mutation	(prognostic)	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
NOTCH1 Mutation	(prognostic)	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
NOTCH1 Mutation	(oncogenic)	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

Mantle Cell Lymphoma3

NOTCH1 Mutation

(prognostic)

Prognostic

Supports Poor Outcome

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

NOTCH1 Mutation

(prognostic)

Prognostic

Supports Poor Outcome

submitted

EID11895

This study confirmed clinical associations between TP53 and NOTCH1 with poor outcome.

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

civic

NOTCH1 Mutation

(oncogenic)

Oncogenic

Supports Oncogenicity

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

T Acute Lymphoblastic Leukemia2
NOTCH1 Mutation	Prednisone	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
NOTCH1 Mutation	Prednisone	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

T Acute Lymphoblastic Leukemia2

NOTCH1 Mutation

Prednisone

Predictive

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

NOTCH1 Mutation

Prednisone

Predictive

Supports Sensitivity Response

—

submitted

EID2693

PMID 16614245 · Breit et al., 2006 · Open in CIViC

civic

Evidence by cancer (9 items)

Clinical significance (0)