Letter to the Editor
Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance
Article first published online: 28 MAR 2013
© 2013 Wiley Periodicals, Inc.
Volume 34, Issue 6, pages 920–922, June 2013
How to Cite
Grandval, P., Fabre, A. J. and Olschwang, S. (2013), Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance. Hum. Mutat., 34: 920–922. doi: 10.1002/humu.22312
- Issue published online: 20 MAY 2013
- Article first published online: 28 MAR 2013
- Manuscript Accepted: 14 JAN 2013
- Manuscript Received: 18 OCT 2012
- 2012. Classification of mismatch repair gene missense variants with PON-MMR. Hum Mutat 33:642–650. , , .
- 2012. Functional characterization of MLH1 missense variants identified in lynch syndrome patients. Hum Mutat 33:1647–1655. , , , , , , , , , , , , et al.
- 2012. A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. Hum Mutat 33:488–494. , , , , , .
- 2009. UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity—application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum Mutat 30:952–959. , , , , , , .
- 2010. Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants. Methods Mol Biol 653:249–257. , , , , , .
- 2009. Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome. Surg Oncol Clin N Am 18:637–645.
- 2008. A database to support the interpretation of human mismatch repair gene variants. Hum Mutat 29:1337–1341. , , , , , .
- for the IARC Unclassified Genetic Variants Working Group. 2008. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 29:1282–1291. , , , , , , , , , ,
- 2011. The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome. Hum Mutat 32:696–697. , , , , .
- 2012. Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future. Hum Mutat 33:1617–1625. , , , , , , .