RESUMO
The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols, Spain, in May 2008.
Assuntos
Bases de Dados Genéticas , Variação Genética , Genoma Humano/genética , Biologia Computacional/métodos , Biologia Computacional/normas , Predisposição Genética para Doença , Genótipo , Humanos , Disseminação de Informação , Mutação , Fenótipo , Polimorfismo Genético , EspanhaRESUMO
We report a rare case of leiomyosarcoma in the bladder which occurred in an 18-year-old female with a prior history of retinoblastoma (RB). Molecular characterization of this tumor displayed a homozygous RB deletion and a reduced P53 expression. These results suggest that the loss of RB and P53 may have contributed to the initiation and/or progression of the leiomyosarcoma of the bladder in this patient.