A Pilot Study Using Next-Generation Sequencing in Advanced Cancers: Feasibility and Challenges

“New anticancer agents that target a single cell surface receptor, up-regulated or amplified gene product, or mutated gene, have met with some success in treating advanced cancers. However, patients’ tumors still eventually progress on these therapies. If it were possible to identify a larger number of targetable vulnerabilities in an individual’s tumor, multiple targets could be exploited with the use of specific therapeutic agents, thus possibly giving the patient viable therapeutic alternatives.”


A Pilot Study Using Next-Generation Sequencing in Advanced Cancers: Feasibility and Challenges

“New anticancer agents that target a single cell surface receptor, up-regulated or amplified gene product, or mutated gene, have met with some success in treating advanced cancers. However, patients’ tumors still eventually progress on these therapies. If it were possible to identify a larger number of targetable vulnerabilities in an individual’s tumor, multiple targets could be exploited with the use of specific therapeutic agents, thus possibly giving the patient viable therapeutic alternatives.”


A Pilot Study Using Next-Generation Sequencing in Advanced Cancers: Feasibility and Challenges

“New anticancer agents that target a single cell surface receptor, up-regulated or amplified gene product, or mutated gene, have met with some success in treating advanced cancers. However, patients’ tumors still eventually progress on these therapies. If it were possible to identify a larger number of targetable vulnerabilities in an individual’s tumor, multiple targets could be exploited with the use of specific therapeutic agents, thus possibly giving the patient viable therapeutic alternatives.”


Genome Sequencing of Mucosal Melanomas Reveals that They are Driven by Distinct Mechanisms from Cutaneous Melanoma

“Mucosal melanoma displays distinct clinical and epidemiological features compared to cutaneous melanoma. Here we used whole genome and whole exome sequencing to characterize the somatic alterations and mutation spectra in the genomes of ten mucosal melanomas. We observed somatic mutation rates that are considerably lower than occur in sun-exposed cutaneous melanoma, but comparable to the rates seen in cancers not associated with exposure to known mutagens. In particular, the mutation signatures are not indicative of ultraviolet light- or tobacco smoke-induced DNA damage.”


Genetic Mutations Could Help Identify Aggressive Prostate Tumors Faster


A new study suggests that mutations associated with aggressive prostate tumors can be detected before pathologists recognize the cells as aggressive. John Cheville, MD, pathologist; George Vasmatzis, PhD, assistant professor of laboratory medicine and pathology; and colleagues from the Mayo Clinic in Rochester, Minnesota, used next-generation genomic sequencing to compare the genetic alterations of pathologically distinct cells from the same prostate tumor. The study is published in Cancer Research, a journal of the American Association for Cancer Research. Continue reading…


Simultaneous Spurts of Mutations Drive Prostate Cancer, Whole-Genome Sequencing Study Finds


A large collaborative research effort shows that prostate cancers may evolve in sudden, brief spurts of many simultaneous genetic mutations that disrupt important prostate cancer genes. Using deep-sequencing techniques and computer modeling, scientists have created a detailed temporal map of how genetic aberrations evolve within prostate tumors. This result differs from the traditional model of cancer resulting from the step-by-step accumulation of individual mutations. The study is published in the journal Cell. Continue reading…


Genome Sequencing of Mucosal Melanomas Reveals That They are Driven by Distinct Mechanisms from Cutaneous Melanoma

Mucosal melanoma displays distinct clinical and epidemiological features compared to cutaneous melanoma. Here we used whole genome and whole exome sequencing to characterize the somatic alterations and mutation spectra in the genomes of ten mucosal melanomas. We observed somatic mutation rates that are considerably lower than occur in sun-exposed cutaneous melanoma, but comparable to the rates seen in cancers not associated with exposure to known mutagens. In particular…”


Tumor associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing

Patients with prostate cancer may present with metastatic or recurrent disease despite initial curative treatment. The propensity of metastatic prostate cancer to spread to the bone has limited repeated sampling of tumor deposits. Hence, considerably less is understood about this lethal metastatic disease, as it is not commonly studied. Here we explored whole-genome sequencing of plasma DNA to scan the tumor genomes of these patients noninvasively…”


Cancer Genome Landscapes

“Over the past decade, comprehensive sequencing efforts have revealed the genomic landscapes of common forms of human cancer. For most cancer types, this landscape consists of a small number of “mountains” (genes altered in a high percentage of tumors) and a much larger number of “hills” (genes altered infrequently). To date, these studies have revealed ~140 genes that, when altered by intragenic mutations, can promote or “drive” tumorigenesis…”