MedicalResearch.com Interview with:
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Dr. Ed Liu[/caption]
Ed Liu, M.D
President and CEO
The Jackson Laboratory (JAX)
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: A few years ago we and others identified a complex genomic instability profile commonly found in the genomes of breast, ovarian and endometrial carcinomas, which is characterized by hundreds of isolated head-to-tail duplications of DNA segments, called tandem duplications. We refer to this configuration as the tandem duplicator phenotype, or TDP.
In this study, we perform a meta-analysis of over 2,700 cancer genomes from over 30 different tumor types and provide a detailed description of six different types of TDP, distinguished by the presence of tandem duplications of different sizes. Collectively, these profiles are found in ~50% of breast, ovarian and endometrial carcinomas as well as 10-30% of adrenocortical, esophageal, stomach and lung adeno-carcinomas. We show that distinct genetic abnormalities associate with the distinct TDPs, clearly suggesting that distinct molecular mechanisms are driving TDP formation. In particular, we provide strong evidence of a casual relationship between joint abrogation of the
BRCA1 and
TP53 tumor suppressor genes and the emergence of a short-span (~11 Kb) TDP profile. We also observe a significant association between hyper-activation of the CCNE1 pathway and TDP with medium-span (~230 Kb) tandem duplications, and between mutation of the
CDK12 gene and medium- and large-span TDP (coexisting 230 Kb and 1.7 Kb tandem duplications).
Importantly, we find that different forms of TDP result in the perturbation of alternative sets of cancer genes, with short-span TDP profiles leading to the loss of tumor suppressor genes via double transections, and larger-span TDP profiles resulting in the duplication (i.e. copy number gain) of oncogenes and gene regulatory elements, such as super-enhancers and disease-associated SNPs.
David H. McDaniel, MD is Board Certified by the American Board of Dermatology. He is a Co-Director of the Hampton University Skin of Color Research Institute, Adjunct Professor in the School of Science, Hampton University.
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: The study was designed to evaluate at multiple sites the effects on submental fat of a 1060nm diode laser treatment which was already FDA cleared for non-invasive lipolysis of the abdomen, flanks, back, inner and outer thighs. A total of 19 volunteers were treated at our study site with typically two 25 minute treatments. There was a 12 week follow-up period after treatment and photography (both 2D and 3D) was used to evaluate with expert physician grader along with other 3D analytics and a subject satisfaction questionnaire.
The main findings were reduction in submental fat both from the expert grader and as well as the 3D metrics. The 3D metrics also showed a lifting effect. The study volunteers reported a ‘satisfied’ or ‘extremely satisfied’ score from the subject assessments.
