Molecular Genetic Mechanism And Strategies For Monitoring And Management Of Chinese Familial Adenomatous Polyposis

There are rare reports about these questions in Chinese FAP patients.In the current study, contents are as follows: (J)Germline mutations of APC gene were studied.(2)Construction of familial adenomatous polyposis registration database and registration and pedigree analysis of families were carried on. Quality of life in FAP patients were assessed.(3)Diagnosis and treatment of familial adenomatous polyposis with extraintestinal tumours were studied. The results suggested that PCR-DHPLC is simple, sensitive and economic.There may be racial diversity in APC gene germline mutation. Application of the database can greatly facilitate the registration of FAP families and is an efficient way to manage families' information by computer.Since the establishment of the registration center, the prevalence of colorectal cancer had decreased considerably.The work of the center was probably the main cause of this improvement.FAP patients experienced significant inpairment in QOL. Chinese version of the SF-36 Health Survey Scales may be a useful measurement of QOL in FAP patients. FAP patients with extraintestinal tumours are not rare and enough attention should be paid to this disease entity.A reasonable remedy was selected according to general state of health and conditions of tumours which can improve prognosis and quality of life.