Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency.

doi:10.1136/bcr-2013-008684

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Article

Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency.

BMJ case reports - 25 Feb 2013

Hoang Don, Sue Gloria R, Xu Fang, Li Peining, Narayan Deepak

Abstract excerpt

Chromosomal instability is a potentially critical step in the development of colorectal cancer. The budding uninhibited by benzimidazole 1 (BUB1) gene is a highly conserved protein that plays a critical role at the spindle assembly checkpoint during cell division. BUB1 mutations function in a dominant-negative fashion and have been implicated in causing dysfunctional kinetochore attachments, premature chromatid...

Topics

Alleles
Aneuploidy
Cell Transformation, Neoplastic
Chromosomal Instability
Chromosome Deletion
Chromosome Segregation
Chromosomes, Human, Pair 2
DNA, Neoplasm
Follow-Up Studies
Gastrointestinal Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Middle Aged

Mutation

Protein Serine-Threonine Kinases

Real-Time Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 23440991
DOI: 10.1136/bcr-2013-008684
PMCID: PMC3604111

Genes

BUB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-23440991-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency.PMID 23440991Read ↗

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