Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif.
作者： Nick M. Makridakis , Lúcio Fábio Caldas Ferraz , Juergen K.V. Reichardt
DOI: 10.1002/HUMU.20810
关键词:
摘要: Somatic mutations are hallmarks of cancer progression. We sequenced 26 matched human prostate tumor and constitutional DNA samples for somatic alterations in the SRD5A2, HPRT, HSD3B2 genes, identified 71 nucleotide substitutions. Of these substitutions, 79% (56/71) occur within a WKVnRRRnVWK sequence (a novel motif we call THEMIS [from ancient Greek goddess prophecy]: W=A/T, K=G/T, V=G/A/C, R=purine (A/G), n=any nucleotide), with one mismatch allowed. Literature searches this allowed 66% (37/56) 74% (90/122) breast found all genes analyzed. also 88% (23/26) ras1 gene formed sensitive to skin carcinogenesis (SENCAR) mouse model, after induction error-prone repair following mutagenic treatment. The high prevalence each above mentioned cases cannot be explained by chance (P<0.046). further 27 polymerase pol eta, kappa, beta patients. data suggest that most substitutions may sites conform motif. These caused "mutator" genes.
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