Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3
1999

Mutation Analysis of the Fanconi Anaemia A Gene in Breast Tumours

Sample size: 19 publication Evidence: low

Author Information

Author(s): Cleton-Jansen A-M, Moerland E W, Pronk J C, van Berkel C G M, Apostolou S, Crawford J, Savoia A, Auerbach A D, Mathew C G, Callen D F, Cornelisse C J

Primary Institution: Leiden University Medical Center

Hypothesis

Is the Fanconi anaemia A gene involved in breast cancer with loss of heterozygosity at 16q24.3?

Conclusion

The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer.

Supporting Evidence

  • The FAA gene is located on chromosomal band 16q24.3.
  • Loss of heterozygosity at 16q24.3 is frequently reported in breast cancer.
  • Five polymorphisms were identified but did not differ from normal controls.

Takeaway

The study looked at a gene thought to be linked to breast cancer but found it wasn't involved.

Methodology

Mutation analysis using SSCP and Southern blotting.

Limitations

The study did not identify any tumour-specific mutations.

Digital Object Identifier (DOI)

10.1038/sj.bjc.6690168

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