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This Week in BMC Cancer: May 28, 2012


In BMC Cancer this week, researchers in Japan examine the role of the glycoprotein emmprin in endometrial cancer. The team analyzed emmprin expression in uterine normal endometrium, endometrial hyperplasia, and cancer samples, and found that emmprin expression levels were significantly higher in endometrial cancer samples, compared with normal endometrium and endometrial hyperplasia. Additionally, disease-free survival and overall survival rates were higher in patients with high emmprin expression than in those with low emmprin expression. "Emmprin knockdown by the siRNA led to cell proliferation, migration and invasion through TGF-beta, EGF, NF-B, VEGF, MMP-2, and MMP-9 expression, which in turn resulted in increased levels of E-cadherin and reduced levels of Vimentin and Snail in endometrial cancer," the team writes.

Also in BMC Cancer this week, researchers in Taiwan and Italy report on the clinical significance of erythropoietin receptor expression in oral squamous cell carcinoma. The team examined 256 patients who had undergone primary surgical resection, without previous radiotherapy or chemotherapy. They found that erythropoietin receptor was over-expressed in oral squamous cell carcinoma tissues, and that high erythropoietin receptor expression was correlated with advanced tumor classification, advanced Tumor Node Metastasis stage, and positive node classification. Additionally, the team says, patients with high tumor erythropoietin receptor expression had a lower five-year overall survival rate than patients with low erythropoietin receptor expression. "EPOR expression may serve as a treatment target for OSCC in the future," the authors write.

And finally in BMC Cancer this week, researchers in South Korea report on the association between breast cancer survival and common polymorphisms of microRNA biogenesis pathway genes. The team used genotype data from a previously conducted study to study possible associations between 41 germline SNPs and both disease-free and overall survival in 488 breast cancer patients. They found that eight SNPs were associated with breast cancer survival: two SNPs in AGO2 and one in DICER1 were associated with both disease-free and overall survival, while two in HIWI and one in DGCR8 were associated with disease-free survival only, and one each in DROSHA and GEMIN4 were associated with overall survival only. "The most significant association was observed in variant allele of AGO2 rs117806030 with 2.62-fold increased risk of disease progression and in minor allele homozygote of AGO2 rs2292779 with 2.94-fold increased risk of death," the team writes. "We also found cumulative effects of SNPs on [disease-free survival] and [overall survival]."

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.