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Pilot studies for personalized cancer medicine: focusing on the patient for treatment selection.

ABSTRACT: Advances in diagnostics and targeted therapies during the past decade have changed how oncology is viewed. "Stratified medicine" has emerged from the accumulated evidence garnered from matching targeted therapies with tumor molecular aberrations. Concomitantly, current knowledge derived from large-scale, massively parallel sequencing technologies and global research initiatives such as the international 1000 Genomes Project, the Cancer Genome Atlas, the International Cancer Genome Consortium, and publicly available catalogs such as the Catalogue of Somatic Mutations in Cancer and Genomics of Drug Sensitivity in Cancer have illuminated the utility of understanding the molecular basis of cancer through genome analysis. In addition, multiple collaborative efforts are widening the possibility of universally personalizing cancer care. Although several key challenges of personalized cancer medicine (PCM) need to be addressed, some pilot studies are transforming the way we analyze tumor tissue molecular aberrations, design clinical trials, and measure treatment efficacy. Taken together, these pilot studies are paving the way for clinical trials that are designed to empirically test the concept of PCM. In this paper, we describe lessons learned from the first pilot initiatives of PCM and how this knowledge is being used to design novel clinical trials.

SUBMITTER: De Mattos-Arruda L

PROVIDER: S-EPMC3825301 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Pilot studies for personalized cancer medicine: focusing on the patient for treatment selection.

De Mattos-Arruda Leticia L Rodon Jordi J

The oncologist 20131017 11

Advances in diagnostics and targeted therapies during the past decade have changed how oncology is viewed. "Stratified medicine" has emerged from the accumulated evidence garnered from matching targeted therapies with tumor molecular aberrations. Concomitantly, current knowledge derived from large-scale, massively parallel sequencing technologies and global research initiatives such as the international 1000 Genomes Project, the Cancer Genome Atlas, the International Cancer Genome Consortium, an ...[more]

PMID: 24136009

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Project description:Colorectal cancer (CRC) is a very heterogeneous disease that is caused by the interaction of genetic and environmental factors. CRC develops through a gradual accumulation of genetic and epigenetic changes, leading to the transformation of normal colonic mucosa into invasive cancer. CRC is one of the most prevalent and incident cancers worldwide, as well as one of the most deadly. Approximately 1235108 people are diagnosed annually with CRC, and 609051 die from CRC annually. The World Health Organization estimates an increase of 77% in the number of newly diagnosed cases of CRC and an increase of 80% in deaths from CRC by 2030. The incidence of CRC can benefit from different strategies depending on its stage: health promotion through health education campaigns (when the disease is not yet present), the implementation of screening programs (for detection of the disease in its early stages), and the development of nearly personalized treatments according to both patient characteristics (age, sex) and the cancer itself (gene expression). Although there are different strategies for screening and although the number of such strategies is increasing due to the potential of emerging technologies in molecular marker application, not all strategies meet the criteria required for screening tests in population programs; the three most accepted tests are the fecal occult blood test (FOBT), colonoscopy and sigmoidoscopy. FOBT is the most used method for CRC screening worldwide and is also the primary choice in most population-based screening programs in Europe. Due to its non-invasive nature and low cost, it is one of the most accepted techniques by population. CRC is a very heterogeneous disease, and with a few exceptions (APC, p53, KRAS), most of the genes involved in CRC are observed in a small percentage of cases. The design of genetic and epigenetic marker panels that are able to provide maximum coverage in the diagnosis of colorectal neoplasia seems a reasonable strategy. In recent years, the use of DNA, RNA and protein markers in different biological samples has been explored as strategies for CRC diagnosis. Although there is not yet sufficient evidence to recommend the analysis of biomarkers such as DNA, RNA or proteins in the blood or stool, it is likely that given the quick progression of technology tools in molecular biology, increasingly sensitive and less expensive, these tools will gradually be employed in clinical practice and will likely be developed in mass.

Dataset Information

Pilot studies for personalized cancer medicine: focusing on the patient for treatment selection.

Publications

Pilot studies for personalized cancer medicine: focusing on the patient for treatment selection.

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