Genetic Investigation of Solid Tumors Cohort
Recent studies in human genetics have discovered several intervals in the human genome
containing inherited variants that are statistically associated with the propensity to
develop solid tumors. Even though it has been firmly established that if an individual
carries these DNA variants they have an increased chance of developing a solid tumor the
underlying biological mechanisms for most of these associations are largely unknown.
In addition to inherited DNA variants that are associated with the development of solid
tumors it is well established that during the development and growth of solid tumors the DNA
in these cancer cells undergo somatic changes (mutations). These somatic DNA changes have
been studied over the past decade and frequently are specific chromosomal translocations and
amplifications associated with the development of particular solid tumors. In some
instances, examining the chromosomal translocation and amplification has lead to the
discovery of proteins contributing to solid tumor pathology.
the human 8q24 interval that has strong genetic associations with solid tumor development
has also been noted as frequently amplified in solid tumors and serves as a predictor of
poor survival in prostate cancers.
Observational Model: Cohort
Solid tumor biological insights
Obtain blood samples, solid tumor and/or benign hyperplasia samples, and in some instances normal tissue in order to gain biological insights into cancer (solid tumors) through population genetics and genomics.
James Mason, MD
United States: Institutional Review Board
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