Location: Montreal, Canada
- Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec familyS McVety
J Med Genet 43:153-6. 2006..The exon 3 ESE is not recognised by all available motif scoring matrices, highlighting the importance of RNA analysis in the detection of ESE disrupting mutations...
- Novel genomic insertion-- deletion in MLH1: possible mechanistic role for non-homologous end-joining DNA repairS McVety
Department of Human Genetics, SMBD Jewish General Hospital, McGill University, Quebec, Canada
Clin Genet 68:234-8. 2005..We propose a mechanism involving non-homologous end joining to explain the occurrence of this complex deletion...
- The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing aloneSusan McVety
Department of Human Genetics, McGill University, Canada
Fam Cancer 5:21-8. 2006..The third is a large deletion in MSH2 that could not be detected by PTT because of its location relative to the primers used to amplify the cDNA, or by sequencing. This mutation was detected by MLPA...
- Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)Lili Li
Program in Cancer Genetics, McGill University, Montreal, Quebec, Canada
Hum Mutat 27:388. 2006..Our study suggests that Alu is a promoting factor for the genomic recombinations in both MLH1 and MSH2, and the local Alu density may be involved in shaping the deletion pattern...
- Analysis of PALB2/FANCN-associated breast cancer familiesMarc Tischkowitz
Program in Cancer Genetics, Departments of Oncology and Human Genetics and Departments of Medicine and Human Genetics, McGill University, Montreal, QC, Canada
Proc Natl Acad Sci U S A 104:6788-93. 2007..The apparently high penetrance noted in this study suggests that at least some PALB2 mutations are associated with a substantially increased risk for the disease...
- Cyclin D1/cdk4 can interact with E2F4/DP1 and disrupts its DNA-binding capacityAnthony Scime
Department of Pathology and Molecular Medicine, McMaster University, Main Street West, Hamilton, Ontario, Canada
J Cell Physiol 214:568-81. 2008..These data support a model in which E2F4 DNA binding is abolished during mid-G(1) at the same time when E2F interactions with pRb-related proteins are disrupted by cyclin D1/cdk4...
- Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variantLili Li
Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
Hum Mutat 30:1543-50. 2009..Such comprehensive functional studies will be important adjuncts to genetic studies of variants...