Journal article

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

BA Thompson, A Martins, AB Spurdle

Clinical Genetics | WILEY | Published : 2015


Many mismatch repair (MMR) gene disease-causing mutations identified in cancer patients result in aberrant messenger RNA (mRNA) splicing. However, mRNA assay interpretation can be complicated by the existence of naturally occurring alternative mRNA transcripts, most of which have not been formally described or fully characterized. Here, we provide a comprehensive catalogue of all MMR transcripts described to date, and a review of MMR nucleotide variants associated with an apparent upregulation of alternatively spliced transcripts. This work sets reference starting points for designing and interpreting MMR RNA analyses. Our database and literature searches retrieved 30 MLH1, 22 MSH2, 4 MSH6 a..

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University of Melbourne Researchers


Awarded by Cancer Australia

Funding Acknowledgements

B. A. T. is supported by a Cancer Council of Queensland PhD scholarship and by a Queensland Institute of Medical Research PhD Top-Up award. A. B. S. is a National Health and Medical Research Council Senior Research Fellow. The work performed by A. B. S. and B. A. T. was additionally supported by Cancer Australia (1010859). A. M. is supported by the French National Cancer Institute (INCa), the Canceropole Nord-Quest (CNO), and the Fondation ARC pour la Recherche sur le Cancer. We thank James Fackenthal for his unpublished information on BRCA2 alternative splicing transcripts.