作者: Marianne Berg , Stine A. Danielsen , Terje Ahlquist , Marianne A. Merok , Trude H. Ågesen
DOI: 10.1371/JOURNAL.PONE.0013978
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摘要: The incidence of colorectal cancer (CRC) increases with age and early onset indicates an increased likelihood for genetic predisposition this disease. somatic genetics tumor development in relation to patient remains mostly unknown. We have examined the mutation status five known critical genes at diagnosis, compared genomic complexity tumors from young patients without CRC syndromes those elderly patients. Among 181 patients, stratified by microsatellite instability status, DNA sequence changes were identified KRAS (32%), BRAF (16%), PIK3CA (4%), PTEN (14%) TP53 (51%). In younger than 50 years (n = 45), mutations not observed more frequent older groups. total gene index was lowest youngest contrast, genome complexity, assessed as copy number aberrations, highest A comparable ( 70 years) quadruple negative four predictive markers (KRAS-BRAF-PIK3CA-PTEN); however, 16% versus only 1% old had PTEN/PIK3CA exclusively. This implies that testing prediction EGFR treatment response may be restricted (>70 Distinct differences found whom are clinical pathological variables, indicate a different risk profile