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Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis
TLDR
It is shown that 12 per cent of colorectal carcinomas carry somatic deletions in poly(dA . dT) sequences and other simple repeats, and it is concluded that these mutations reflect a previously undescribed form of carcinogenesis in the colon mediated by a mutation in a DNA replication factor resulting in reduced fidelity for replication or repair (a 'mutator mutation').
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Most human carcinomas of the exocrine pancreas contain mutant c-K-ras genes
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Somatic Frameshift Mutations in the BAX Gene in Colon Cancers of the Microsatellite Mutator Phenotype
TLDR
The results suggest that inactivating BAX mutations are selected for during the progression of colorectal MMP+ tumors and that the wild-type BAX gene plays a suppressor role in a p53-independent pathway for coloreCTal carcinogenesis.
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A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines.
TLDR
Criteria were pivotal in identifying kindreds that eventually led to the association of the HNPCC syndrome with germline mismatch repair gene mutations (MMR), however, the criteria do not account for extracolonic cancers or for small kindreds.
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Frameshift mutator mutations
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Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation
TLDR
In vivo and in vitro results show that the genomic instability persists after transformation and that microsatellite mutations accumulate as consecutive somatic slippage events of a single or a few repeated units.
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Three human transforming genes are related to the viral ras oncogenes.
TLDR
Three distinct transforming genes present in human tumor cell lines are all related to the viral oncogenes of Harvey and Kirsten murine sarcoma viruses, designated v-H-ras and v-K-ras, respectively, and based on the homology with the v-ras genes, they are established to be a third member of the ras gene family, which is called N-ras.
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Detection of high incidence of K-ras oncogenes during human colon tumorigenesis
TLDR
RNAse A mismatch cleavage analysis of 66 primary human colon tumours reveals a high incidence of K-ras genes with mutations at position 12, and evidence for ras mutational activation in premalignant tissue was obtained.
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Frameshift somatic mutations in gastrointestinal cancer of the microsatellite mutator phenotype.
TLDR
A multiple mutator gene model for the stepwise unfolding of the MMP is supported and the importance of the escape from apoptosis in gastrointestinal cancer is illustrated: the tumor suppressor role played by BAX is also supported by the finding of other somatic BAX mutations, including recurrent missense mutations.
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Defective mismatch repair in extracts of colorectal and endometrial cancer cell lines exhibiting microsatellite instability.
A replication error (RER+) phenotype, characterized by somatic instability in simple repeated sequences, is associated with several types of cancer. To determine if a defect in DNA replication…
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