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This Week in the Journal of the National Cancer Institute: Jul 28, 2011

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In the Journal of the National Cancer Institute this week, researchers in Northern Ireland present results from a large population-based study of the risks of malignant progression in patients with Barrett's esophagus syndrome. The team followed 8,522 Barrett's patients from 1993 to the end of 2008, and found that after a mean follow-up of seven years, 79 patients were diagnosed with esophageal cancer, 16 with cancer of the gastric cardia, and 36 with high-grade dysplasia. "In the entire cohort, incidence of esophageal or gastric cardia cancer or high-grade dysplasia combined was 0.22 percent per year," the authors write. "[Specialized intestinal metaplasia] was found in 46.0 percent of patients. In patients with SIM, the combined incidence was 0.38 percent per year." In all, the researchers add, the risk of malignant progression in Barrett's patients is lower than previously reported, which suggests that too much money is currently being spent on recommended surveillance strategies.

Also in the Journal of the National Cancer Institute this week, the journal's editors present a memo on five gene locations that have been identified as strong markers for melanoma susceptibility. An analysis done by the University of Athens Medical School's Alexander Stratigos of more than a hundred studies on the genetic associations of melanoma identified five gene variants — whittled down from 745 possibilities — that are statistically significantly associated with cutaneous melanoma at the genome level, the memo says. "The loci having the strongest associations with melanoma susceptibility contained genes that play an important role in determining skin, hair, and eye color," the memo adds. "However, the authors note that this finding has to be interpreted with caution because these loci were chosen in the first place, i.e., for testing in the original studies, because of their effect on pigmentation, which is known to be associated with melanoma risk."

And finally in the Journal of the National Cancer Institute this week, researchers in Colorado and Massachusetts present a study on the influence of comorbidities on the overall survival of older breast cancer patients. The study population included 64,034 patients with breast cancer diagnosed at a median age of 75 years — 58 percent of the patients had none of the 13 comorbid conditions identified by the researchers. "Each of the 13 comorbid conditions examined was associated with decreased overall survival and increased mortality," the team writes. "When patients of age 66-74 years were stratified by stage and individual comorbidity status, patients with each comorbid condition and a stage I tumor had similar or poorer overall survival compared with patients who had no comorbid conditions and stage II tumors."

The Scan

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.