Functional analysis ofMSH2unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

Response to: Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance

(2013) Lene Juel Rasmussen et al.   HUMAN MUTATION

Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future

(2012) Lene Juel Rasmussen et al.   HUMAN MUTATION

A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

(2012) Bryony A. Thompson et al.   HUMAN MUTATION

Integrated analysis of unclassified variants in mismatch repair genes

(2011) Chiara Pastrello et al.   GENETICS IN MEDICINE

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants

(2011) Mark Drost et al.   HUMAN MUTATION

Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells

(2011) Eva A.L. Wielders et al.   HUMAN MUTATION

The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress

(2011) Ian Holt et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers

(2009) Laura Baglietto et al.   JNCI-Journal of the National Cancer Institute

Specific pathways prevent duplication-mediated genome rearrangements

(2009) Christopher D. Putnam et al.   NATURE

Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome

(2008) Juul T. Wijnen et al.   GASTROENTEROLOGY

Interplay of DNA Repair Pathways Controls Methylation Damage Toxicity in Saccharomyces cerevisiae

(2008) P. Cejka et al.   GENETICS

Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors

(2008) P T Campbell et al.   GUT

Accurate classification ofMLH1/MSH2missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)

(2008) Elizabeth C. Chao et al.   HUMAN MUTATION

In silico analysis of missense substitutions using sequence-alignment based methods

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

IGF1 is a modifier of disease risk in hereditary non‐polyposis colorectal cancer

(2008) Stuart G. Reeves et al.   INTERNATIONAL JOURNAL OF CANCER