Germ-line allele-specific expression (ASE) is a useful marker of genetic predisposition to cancer or other diseases. Carriers of MUTYH mutations have an increased risk of developing gastrointestinal tumors. In this study we will analyzed whether the germ-line variations in APC and MUTYH ASE may be associated with low penetration-familial cancers in APC mutation-negative colorectal cancer patients and whether the pathogenic APC and MUTYH mutations have impact on ASE.
The study will be carried out on DNA obtained from a collection of 44 blood samples of APC mutation-negative colorectal cancer patients, 13 APC mutation-positive FAP patients and 160 healthy donors from ‘‘SS. Annunziata’’ Chieti Hospital. DHPLC-based primer extension-method will be used to analyze APC and MUTYH ASE.
Preliminary studies underlined the importance of RNA level analyses in the molecular diagnosis of patients with colorectal cancer without detectable APC and/or MUTYH mutations.
The study will be carried out on DNA obtained from a collection of 44 blood samples of APC mutation-negative colorectal cancer patients, 13 APC mutation-positive FAP patients and 160 healthy donors from ‘‘SS. Annunziata’’ Chieti Hospital. DHPLC-based primer extension-method will be used to analyze APC and MUTYH ASE.
Preliminary studies underlined the importance of RNA level analyses in the molecular diagnosis of patients with colorectal cancer without detectable APC and/or MUTYH mutations.
Auhtors involved: G. Aceto1, L. De Lellis2, F. Fantini1, P. Battista1, A. Cama2, M. C. Curia3.
Departments of Clinical and Experimental Sciences (1), Drug Sciences (2) and Medical, Oral and Biotechnological Sciences (3), ‘‘G. d’Annunzio’’ University, Chieti-Pescara.