Avtor/Urednik		Podpečnik, Darja
Naslov		Molekularnogenetska analiza genov K-ras, Rassf1A in p53 pri bolnikih z rakom glave in vratu, pljuč in širokega črevesa ter napovedni pomen mutacij teh genov
Prevedeni naslov		Molecular genetic analysis of the K-ras, Rassf1A and p53 genes in patients of the head and neck, lung and colon cancer and prognostic value of the mutations of this genes
Tip		monografija
Kraj izdaje		Ljubljana
Založnik		Medicinska fakulteta
Leto izdaje		2003
Obseg		str. 91
Jezik		slo
Abstrakt		Cancer is genetically heterogeneus disorder. The molecular mechanisms of cancer are still not fully understood. Mutations of tumor suppressor genes and oncogenes play a central role in tumorigenesis. Some of these are mutations of the K-ras oncogene and Rassf1A and p53 tumor suppressor genes. We estimated the presence of K-ras, Rassf1A and p53 mutations in colon (546 patients examined), head and neck (160 patients examined) and lung cancer (97 patients examined) that are the most common types of cancer in Slovenia. The incidence of mutations and polymorphisms of the K-ras gene (exons 1 and 2), Rassf1A gene (exons 1-6) and p53 gene (exons 5-8) were determined. Differences in DNA sequences were analysed by conformaton analysis followed by sequencing. K-ras mutations were observed in 35% of patients and p53 mutations in 12% of patients with colon cancer. Of these, 8 new K-ras mutations and 10 new p53 mutations were identified. 11 % of patients with head and neck cancer had Rassf1A mutations and 32% had p53 mutations. 21 new p53 mutations were identified. In lung cancer 13% of patients had K-ras mutations (1 new mutation), 22% of patients had Rassf1A mutations (1 new mutation) and 32% of patients had p53 mutations (I1 new mutations). New mutations identified in studied cancers may reveal attributes of the Slovenian cancer patients. Additionally, the prognostic significance of K-ras, Rassf1A and p53 mutations was evaluated. p53 mutations in general have a positive effect on the survival of patients with colon cancer whereas some types of mutations, transitions and missense mutations have a negative effect on survival. K-ras mutations in general, 35G>T mutations, 38G>A mutations, G>T mutations in general, transversions and codon 12 mutations of the Kras gene have negative effect on the survival of patients with colon cancer not analysed for p53 gene mutations. (Abstract truncated at 2000 characters).
Deskriptorji		HEAD AND NECK NEOPLASMS LUNG NEOPLASMS COLONIC NEOPLASMS GENES, RAS GENES, P53 POLYMERASE CHAIN REACTION POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL BASE SEQUENCE PREDICTIVE VALUE OF TESTS EXONS SURVIVAL ANALYSIS