Last Updated: 09/26/2026
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Found 9 publications
Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome.
Journal: Genes, chromosomes & cancer
Published: January 12, 2021
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 24, 2019
Next generation sequencing is informing phenotype: a TP53 example.
Journal: Familial cancer
Published: May 17, 2017
High-risk family colorectal cancer screening service in Ireland: Critical review of clinical outcomes.
Journal: Cancer epidemiology
Published: January 25, 2017
Breast cancer detection among Irish BRCA1 & BRCA2 mutation carriers: a population-based study.
Journal: Irish journal of medical science
Published: December 18, 2014
Genetic testing and interpretive complexity: a BRCA1 gene mutation example.
Journal: Irish journal of medical science
Published: May 08, 2014
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Journal: Nature genetics
Published: September 19, 2013
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.
Journal: Familial cancer
Published: July 10, 2012
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Last Updated: 09/26/2026