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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
(NATURE PUBLISHING GROUP, 2016-06-22)
Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. ...
Genomic landscape and clonal architecture of mouse oral squamous cell carcinomas dictate tumour ecology.
(NATURE PORTFOLIO, 2020-11-09)
To establish whether 4-nitroquinoline N-oxide-induced carcinogenesis mirrors the heterogeneity of human oral squamous cell carcinoma (OSCC), we have performed genomic analysis of mouse tongue lesions. The mutational ...
Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes.
(NATURE PORTFOLIO, 2017-10-13)
Tumors are composed of an evolving population of cells subjected to tissue-specific selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene identification. Here, we integrate cancer cell ...
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
(CELL PRESS, 2019-04-04)
The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple steps of transcription. Mediator activity is regulated by the reversible association of a four-subunit module comprising CDK8 or ...