Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

NOTCH1 mutations in CLL associated with trisomy 12.

Blood - 12 Jan 2012

Balatti Veronica, Bottoni Arianna, Palamarchuk Alexey, Alder Hansjuerg, Rassenti Laura Z, Kipps Thomas J, Pekarsky Yuri, Croce Carlo M

Abstract excerpt

Two recent studies reported whole-genome sequencing of chronic lymphocytic leukemia (CLL) samples and found repeated mutations in the XPO1 and NOTCH1 genes. XPO1 was found mutated in 2.4% of cases, while NOTCH1 was found mutated in 12.2% or 15.1% of CLL samples. Here we report the results of sequencing of XPO1 and NOTCH1 in 186 CLL cases. Our results confirmed frequency of XPO1 mutations. However, we found only 5...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 12
Share to Immunoglobulin Heavy Chains

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Immunoglobulin Variable Region

Share to Leukemia, Lymphocytic, Chronic, B-Cell

Share to Mutation Rate

Share to Receptor, Notch1

Share to Trisomy

Share to ZAP-70 Protein-Tyrosine Kinase

Source

Open in PubMed Open full text

Identifiers

PMID: 22086416
DOI: 10.1182/blood-2011-10-386144
PMCID: PMC3257004

Genes

NOTCH1
XPO1
ZAP70

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NOTCH1 mutations in CLL associated with trisomy 12.PMID 22086416Read ↗

Clinical, immunophenotypic, and molecular profiling of trisomy 12 in chronic lymphocytic leukemia and comparison with other karyotypic subgroups defined by cytogenetic analysis.Semantic proximity Read ↗

Different distribution of NOTCH1 mutations in chronic lymphocytic leukemia with isolated trisomy 12 or associated with other chromosomal alterations.Semantic proximity Read ↗

NOTCH1 mutations in +12 chronic lymphocytic leukemia (CLL) confer an unfavorable prognosis, induce a distinctive transcriptional profiling and refine the intermediate prognosis of +12 CLL.Semantic proximity Read ↗

Trisomy 12 chronic lymphocytic leukemia expresses a unique set of activated and targetable pathways.Semantic proximity Read ↗

KRAS, NRAS, and BRAF mutations are highly enriched in trisomy 12 chronic lymphocytic leukemia and are associated with shorter treatment-free survivalSemantic proximity Read ↗

Trisomy 12 defines a group of CLL with atypical morphology: correlation between cytogenetic, clinical and laboratory features in 544 patientsSemantic proximity Read ↗

Molecular allelokaryotyping of early-stage, untreated chronic lymphocytic leukemia.Semantic proximity Read ↗

XPO1 mutations identify early-stage CLL characterized by shorter time to first treatment and enhanced BCR signalling.Semantic proximity Read ↗

Additional trisomies amongst patients with chronic lymphocytic leukemia carrying trisomy 12: the accompanying chromosome makes a differenceSemantic proximity Read ↗

Patients with chronic lymphocytic leukaemia and clonal deletion of both 17p13.1 and 11q22.3 have a very poor prognosisSemantic proximity Read ↗

14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma.Semantic proximity Read ↗

A Low Frequency of Losses in 11q Chromosome Is Associated with Better Outcome and Lower Rate of Genomic Mutations in Patients with Chronic Lymphocytic Leukemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.