Affiliation: University of California
- A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumorIsabella Gazzoli
Ludwig Institute of Cancer Research, University of California San Diego School of Medicine, La Jolla, California 92093, USA
Cancer Res 62:3925-8. 2002..This biallelic inactivation resulted in loss of expression of MLH1 in the tumor as confirmed by immunohistochemistry. These results suggest a novel mode of germ-line inactivation of a cancer susceptibility gene...
- Regulation of the human MSH6 gene by the Sp1 transcription factor and alteration of promoter activity and expression by polymorphismsIsabella Gazzoli
Ludwig Institute for Cancer Research University of California San Diego School of Medicine, CMME 3058, 9500 Gilman Drive, La Jolla, CA 92093, USA
Mol Cell Biol 23:7992-8007. 2003..An additional 2% of Caucasians contained another polymorphism, -210 C-->T, which inactivated a single Sp1 site that also contributes to promoter activity...
- Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) casesJames Mueller
Ludwig Institute for Cancer Research, Department of Medicine, Biomedical Sciences Graduate Program, University of California at San Diego School of Medicine, La Jolla, California 92093 0669, USA
Cancer Res 69:7053-61. 2009....