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This Week in BMC Cancer: Jun 28, 2011


In BMC Cancer this week, researchers in the US and China present findings from a study on the regulation of gene expression in ovarian cancer cells by expression and activation of luteinizing hormone receptor. It has been suggested that activation of gonadotropin receptors may contribute to the etiology or progression of ovarian cancers. In this study, the researchers stably transfected ovarian cancer cells from the SKOV-3 cell line to express functional luteinizing hormone receptor and incubated them with luteinizing hormone. "We observed the differential expression of 1,783 genes in response to luteinizing hormone treatment, among which five significant families were enriched, including those of growth factors, translation regulators, transporters, G-protein coupled receptors, and ligand-dependent nuclear receptors," the authors write. "Overall, the present study elucidates the extensive transcriptomic changes of ovarian cancer cells in response to luteinizing hormone receptor activation, which provides a comprehensive and objective assessment for determining new cancer therapies and potential serum markers, of which over 100 are suggested."

Also in BMC Cancer this week, researchers in Australia present a high-throughput protocol for scanning mutations in the BRCA1 and BRCA2 genes. High-resolution melting is a cost-effective rapid screening strategy that detects heterozygous variants, and is "well-suited to screening genes such as BRCA1 and BRCA2 as germline pathogenic mutations in these genes are always heterozygous," the authors write. The team's HRM approach is the first to screen the entire coding region of the BRCA genes using one set of reaction conditions in a multi plate 384 well format using specifically designed primers. "HRM has the advantages of decreasing the necessary sequencing by more than 90 percent. This markedly reduced cost of sequencing will result in BRCA1 and BRCA2 mutation testing becoming accessible to individuals who currently do not undergo mutation testing because of the significant costs involved," the researcher add.

And finally in BMC Cancer this week, a team of US researchers present findings from a study of the association of a Rad51 polymorphism with DNA repair in BRCA1 mutation carriers and sporadic breast cancer risk. Inter-individual variation in DNA repair capacity is thought to modulate breast cancer risk, the authors write. In this study, the team looked at the relationship between the Rad51 DNA repair gene and BRCA1/2, and found that it was "not associated with breast cancer risk in the population-based study." The authors added, "Mutagen sensitivity might be a useful biomarker of penetrance among women with BRCA1 mutations because the mutagen sensitivity assay phenotype is partially explained by genetic variants in BRCA1 and Rad51."

The Scan

Self-Reported Hearing Loss in Older Adults Begins Very Early in Life, Study Says

A JAMA Otolaryngology — Head & Neck Surgery study says polygenic risk scores associated with hearing loss in older adults is also associated with hearing decline in younger groups.

Genome-Wide Analysis Sheds Light on Genetics of ADHD

A genome-wide association study meta-analysis of attention-deficit hyperactivity disorder appearing in Nature Genetics links 76 genes to risk of having the disorder.

MicroRNA Cotargeting Linked to Lupus

A mouse-based study appearing in BMC Biology implicates two microRNAs with overlapping target sites in lupus.

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.