- Title
- Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations
- Creator
- Sjursen, Wenche; McPhillips, Mary; Scott, Rodney J.; Talseth-Palmer, Bente A.
- Relation
- Molecular Genetics & Genomic Medicine Vol. 4, Issue 2, p. 223-231
- Publisher Link
- http://dx.doi.org/10.1002/mgg3.198
- Publisher
- John Wiley & Sons
- Resource Type
- journal article
- Date
- 2016
- Description
- Background: Lynch syndrome, the most frequent hereditary colorectal cancer syndrome, is caused by defects in mismatch repair genes. Genetic testing is important in order to identify mutation carriers who can benefit from intensive surveillance programs. One of the challenges with genetic testing is the interpretation of pathogenicity of detected DNA variants. The aim of this study was to investigate all putative pathogenic variants tested for at the Division of Molecular Medicine, Pathology North, in Newcastle, Australia, to establish whether previous variant classification is in accordance with that recently performed in the InSiGHT collaboration. Methods: Prediction programs and available literature were used to classify new variants or variants without classification. Results: We identified 333 mutation positive families, in which 211 different putative pathogenic mismatch repair mutations were found. Most variants with an InSiGHT classification (141 out of 146) were in accordance with our classification. Five variants were discordant, of which one can definitively be reclassified according to the InSiGHT scheme as class 5. Sixty-four variants had not been classified by InSiGHT, of whom 55 have not been previously reported. Conclusion: In conclusion, we found that our classifications were mostly in accordance with the InSiGHT scheme. In addition to already known MMR mutations, we have also presented 55 novel pathogenic or putative pathogenic mutations.
- Subject
- genetic testing; InSiGHT classification; interpretation of mutations; lynch syndrome; mismatch repair genes; pathogen mutations
- Identifier
- http://hdl.handle.net/1959.13/1323438
- Identifier
- uon:24811
- Identifier
- ISSN:2324-9269
- Rights
- © 2016 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
- Language
- eng
- Full Text
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