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This Week in BMC Cancer: Feb 23, 2011

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In BMC Cancer this week, researchers in India identified and validated genes involved in cervical tumorigenesis. They studied a total of 28 invasive cervical cancers and found 20 genes to be up-regulated and 14 down-regulated in cervical cancers. In addition, the authors validated another 26 genes identified in other studies as playing a role in cervical cancer. "UBE2C, CCNB1, CCNB2, PLOD2, NUP210, MELK, CDC20 genes were overexpressed in tumors … suggesting that they could have a role to play in the early phase of tumorigenesis," the team writes. "IL8, INDO, ISG15, ISG20, AGRN, DTXL, MMP1, MMP3, CCL18, TOP2A, and STAT1 were found to be upregulated in tumors." UBE2C could be evaluated for its potential as a therapeutic target for the disease, they add.

Researchers in the UK present evidence showing a secondary role for Nutlin-3 as a DNA-damage response triggering agent, independent of p53 status, and unrelated to its role as an MDM2 antagonist. In their study, the researchers investigated the stabilization and activation of p53 and its associated DNA-damage response proteins in response to treatment of human colorectal cancer cells with Nutlin-3, and found that Nutlin-3 stabilizes p53 and activates its target proteins. "Unexpectedly, Nutlin-3 also mediated phosphorylation of p53 at key DNA-damage-specific serine residues," the researchers write. "Furthermore, Nutlin-3 induced activation of CHK2 and ATM — proteins required for DNA-damage-dependent phosphorylation and activation of p53, and the phosphorylation of BRCA1 and H2AX — proteins known to be activated specifically in response to DNA damage."

Also in BMC Cancer this week, a research team in South Korea presents genome-wide expression patterns associated with oncogenesis and sarcomatous transdifferentation of cholangiocarcinoma, which is also known as bile duct cancer. The team used DNA microarray technology to identify genes that were differentially expressed between cholangiocarcinoma cell lines or tissues and cultured normal biliary epithelial cells. "We identified a set of 342 commonly regulated genes," the authors write. "Of these, 53, including tumor-related genes, were upregulated, and 289, including tumor suppressor genes, were downregulated." The deregulation of oncogenes, tumor suppressor genes, and methylation-related genes, they conclude, could be useful in identifying targets for diagnosis and prognosis of cholangiocarcinoma.

And finally in BMC Cancer this week, two researchers present the results of their study on the relative risk of second primary cancer in patients in Queensland, Australia. A total of 23,580 second invasive primary cancers were observed in 204,962 patients, and both males and females were found to have a significant excess risk of developing a second cancer relative to the incidence of cancer in the general population, the authors write, adding: "The excess risk of developing a second malignancy among cancer survivors can likely be attributed to factors including similar etiologies, genetics, and the effects of treatment, underlining the need for ongoing monitoring of cancer patients to detect subsequent tumors at an early stage."

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.