Affiliation: National Cancer Research Institute
- Familial adenomatous polyposis: genetics and epidemiologyL Varesco
Center for Hereditary Tumours, National Institute for Cancer Research, Genoa, Italy
Tech Coloproctol 8:s305-8. 2004..Also, genetic testing may be of help in the diagnosis of atypical adenomatous polyposis cases and in the clinical management of affected individuals...
- A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP familyM Montera
J Med Genet 38:863-7. 2001
- Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposisL Bertario
Department of Surgery, National Cancer Institute, Milan, Italy
Int J Cancer 95:102-7. 2001..9; 95% CI 1.1-3.4). Our results indicate that integrating genetic and clinical data is helpful in defining subgroups of patients at higher risk for desmoids, who may benefit from specific prevention programs...
- Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutationM Ponz de Leon
Dipartimento di Medicina Interna, , Modena, Italy
Dis Colon Rectum 44:1597-604. 2001..The study may help to understand the biologic mechanisms of genotype-phenotype correlations in adenomatosis coli...
- Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposisL Bertario
Division of Predictive and Preventive Medicine, Department of Experimental Oncology, National Cancer Institute, Via Venezian 1 20133 Milan, Italy
J Clin Oncol 21:1698-707. 2003..We analyzed a large series of FAP patients to identify associations among major clinical manifestations and to correlate the mutation site with specific disease manifestations...
- Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutationsG Ponti
Department of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy
Clin Genet 68:442-7. 2005..These findings suggest that patients with MTS phenotype that include colonic polyposis should be screened for MYH gene mutations...
- The NM23 gene maps to human chromosome band 17q22 and shows a restriction fragment length polymorphism with BglIIL Varesco
Institute of Pathological Anatomy and Histology, University of Pisa, Italy
Genes Chromosomes Cancer 4:84-8. 1992..The mapping of NM23-Hl by panels of rodent-human somatic cell hybrids and in situ hybridization showed that the gene is located in human chromosome band 17q22. A two-allele polymorphism with BglII was demonstrated...
- Different expressivity of two adjacent mutations of the APC geneS Presciuttini
Italian Polyposis Registry, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan
Tumori 85:28-31. 1999..1 for family B (P < 0.001). CONCLUSIONS: There is significant variation of expressivity (allelic heterogeneity) in FAP between two mutations separated by only eight codons, located at the 5' extremity of APC gene exon 15...
- CpG island clones from a deletion encompassing the gene for adenomatous polyposis coliL Varesco
Molecular Analysis of Mammalian Mutation Laboratory, Imperial Cancer Research Fund, Lincolns Inn Fields, London, United Kingdom
Proc Natl Acad Sci U S A 86:10118-22. 1989..5- to 2-megabase BssHII fragments purified by pulsed-field gel electrophoresis. Three markers are described that map within the deletions and must therefore be close to the APC gene...
- Impact of surgery on the development of duodenal cancer in patients with familial adenomatous polyposisG Biasco
Institute of Haemathology and Medical Oncology L and A Seràgnoli, Via Massarenti 9, 40138, Bologna, Italy
Dis Colon Rectum 49:1860-6. 2006..We proposed to determine the frequency, natural history, cumulative risk, and risk factors of the precancerous duodenal lesions in a series of patients diagnosed in northern Italy...