作者: T Minamoto , Z Ronai , M Mai
DOI:
关键词: Allele 、 Cancer research 、 Sample collection 、 Internal medicine 、 Polymerase chain reaction 、 Gene mutation 、 Mutation 、 DNA mismatch repair 、 Oncology 、 Medicine 、 Pancreas 、 Genetic testing
摘要: Multiple genomic alterations are involved in the development of most human cancers. They include oncogenes, tumor suppressor genes, DNA mismatch repair and excision genes. Genetic testing for susceptibility has been a part management patients with well-defined but uncommon hereditary cancers which certain susceptible gene mutations determined germ line. However, molecular diagnostic approach to sporadic cancers, comprise vast majority malignant tumors beings, is still under development. One best characterized tumor-related genes K-ras, somatically mutates several types Since this occur exclusively three hot spots (codons 12, 13 61), frequently detected well colorectal, pancreas lung diagnosis (risk) assessment targeting K-ras being developed. For purpose, sample collection methods that reflect state entire affected organ important. Clinical samples used risk stool lavage fluid, pancreatic duodenal juices, sputum fluids respectively. The reported incidence these ranges from 7% 80% colorectal 25% 87% 48% Incidence clearly depends on sensitivity method detecting mutant allele, as nature quality clinical samples. Various including plaque hybridization, dot blot combined PCR RFLP or SSCP, sensitive have used, they exhibited high specificity (75 100%) mutations. Molecular analysis demonstrating promise assessing to, developing,