E E M Jaeger
Affiliation: National Institute for Medical Research
- An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndromeE E M Jaeger
Molecular and Population Genetics Laboratory, Cancer Research UK, London, United Kingdom
Am J Hum Genet 72:1261-7. 2003..Although there are probably multiple causes of the multiple colorectal adenoma and cancer phenotype in Ashkenazim, an important one is the HMPS/CRAC1 locus on 15q13-q14...
- Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutationO M Sieber
Molecular and Population Genetics Laboratory, Cancer Research UK, London Research Institute, London, UK
Gut 55:1440-8. 2006..Attenuated familial adenomatous polyposis (AFAP) is associated with germline mutations in the 5', 3', and exon 9 of the adenomatous polyposis coli (APC) gene. These mutations probably encode a limited amount of functional APC protein...
- Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instabilityN A Alam
Molecular and Population Genetics Laboratory, Cancer Research UK, 44, Lincoln s Inn Fields, London WC2A 3PX, UK
Cancer Genet Cytogenet 147:121-7. 2003..Also of interest is the absence of phenotypic abnormality apart from multiple leiomyomatosis in any deletion carrier even though the adjacent genes RGS7, KMO, CHML, and OPN3 were also deleted...