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This Week in the British Journal of Cancer: Dec 27, 2011


A team of international researchers reports in the British Journal of Cancer on whether a germline mutation in phosphoinositide-3-kinase catalytic subunit alpha, or PIK3CA, affects breast cancer risk — somatic mutations in PIK3CA are common in breast cancer tumors in Caucasians. The team genotyped approximately 36,400 cases and 35,000 controls from different studies. The team found that the SNP of interest was associated with a decreased risk of breast cancer in combined studies of white Europeans, but did not reach significance in a replication study. "Common germline variation in PIK3CA does not have a strong influence on the risk of breast cancer," the authors conclude.

Researchers from VU University in Amsterdam characterize the risk of renal cancer and pneumothorax for people with Birt-Hogg-Dubé syndrome, an autosomal dominant disorder caused by germline FLCN mutations. The researchers studied 115 people with FLCN mutations from 35 BHD families. "We confirmed a high yield of FLCN mutations in clinically defined BHD families [and] we found a substantially increased lifetime risk of renal cancer of 16 percent for FLCN mutation carriers," the authors write in the British Journal of Cancer, adding that the risk of pneumothorax in carriers was 29 percent.

Finally, researchers at National Taiwan University report on aberrant Wnt signaling in acute myeloid leukemia. In particular, they looked at hypermethylation of Wnt inhibitors and how that relates to gene aberrations in 269 AML patients. The researchers found a "distinct association between hypermethylation of individual Wnt inhibitors and specific gene aberrations, especially Class II mutations," they write. "The Wnt inhibitor hypermethylation might interact with genetic alterations in the leukaemogenesis."

The Scan

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.

Circulating Tumor DNA Linked to Post-Treatment Relapse in Breast Cancer

Post-treatment detection of circulating tumor DNA may identify breast cancer patients who are more likely to relapse, a new JCO Precision Oncology study finds.

Genetics Influence Level of Depression Tied to Trauma Exposure, Study Finds

Researchers examine the interplay of trauma, genetics, and major depressive disorder in JAMA Psychiatry.

UCLA Team Reports Cost-Effective Liquid Biopsy Approach for Cancer Detection

The researchers report in Nature Communications that their liquid biopsy approach has high specificity in detecting all- and early-stage cancers.