BUB1 infrequently mutated in human breast carcinomas.

Anita Langerød, Maria Strømberg, Koei Chin, Vessela N. Kristensen, Anne Lise Børresen-Dale

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

The BUB1 gene is a key player in the mitotic spindle checkpoint machinery that monitors proper segregation of sister chromatides during mitosis. It has been suggested that mutations in BUB1 may disrupt the spindle checkpoint and thereby cause chromosomal instability, which is a hallmark of solid tumors including those from the breast. From a series of breast carcinomas we selected 20 cases with genomic instability, as scored by Comparative Genome Hybridization (CGH), and without somatic TP53 (p53) mutations, and sequenced the entire coding region of the BUB1 gene. Two different constitutional sequence variants were found; a base substitution in exon 5, c.481G>A (CAG>CAA, a synonymous change encoding Gln144) in two samples, and a base substitution 8 bp upstream of exon 10, c.1007-8T>C in two other samples. No somatic mutations were detected. These results indicate that genomic instability scored as copy number alterations by CGH in TP53 wild type breast carcinomas is not caused by somatic mutations in the BUB1 gene.

Original languageEnglish (US)
Number of pages1
JournalHuman mutation
Volume22
Issue number5
DOIs
StatePublished - Nov 2003

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Langerød, A., Strømberg, M., Chin, K., Kristensen, V. N., & Børresen-Dale, A. L. (2003). BUB1 infrequently mutated in human breast carcinomas. Human mutation, 22(5). https://doi.org/10.1002/humu.9194