Browsing by Subject "Genes"

Now showing 1 - 2 of 2
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    Current strategies in the search for low penetrance genes in cancer
    (Murcia : F. Hernández, 2008) Milne, Roger L.; Benítez, Javier
    The genetic etiology of most cancers remains largely unclear and it has been hypothesised that common genetic variants with modest effects on disease susceptibility cause the bulk of this unexplained risk. Case-control association studies are considered the most effective strategy to identify these low-penetrance genes. While traditionally, such studies have focused on putative functional single nucleotide polymorphisms (SNPs) in candidate genes, a more comprehensive approach can now be taken, as a result of a number of recent developments: the mapping of the human genome, including the identification of almost ten million SNPs; and the development of high-throughput genotyping technologies that enable hundreds of thousands of SNPs to be genotyped in a single reaction, in multiple subjects and at an affordable cost. All common genomic variation can be captured by genotyping SNPs in gene-, pathway- or genome-widebased strategies and these are now being applied to many diseases, including cancer. We present an outline of each of these approaches, including recent published examples, and discuss a number of challenges that remain to be addressed.
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    The retinoblastoma gene family and its role in proliferation, differentiation and development
    (Murcia : F. Hernández, 1996) De Luca, A.; Esposito, V.; Baldi, A.; Giordano, A.
    The retinoblastoma gene family is composed of three members: the retinoblastoma gene, one of the most well studied tumor suppressor genes and two related proteins, p107 and pRb2lp130. These three proteins share many structural and functional features and play a fundamental role in growth control. Intense investieation of these moteins has identified a series of U similar cell-cycle regulators and transcription factors with which they interact. Although the precise function of the retinoblastoma gene product and its relatives remains unknown, recent data suggests that they play parallel roles in controlling cell cycle progression and promoting cellular differentiation. In this review, we will attempt to clarify some of the molecular mechanisms by which these three related proteins cooperate to control cellular proliferation and differentiation.