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This Week in JAMA: Jul 27, 2011

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In JAMA this week, US researchers report findings from a study of the associations between survival in early-stage invasive breast cancer patients and occult metastases in sentinel lymph nodes and bone marrow. The team studied 5,210 patients who underwent breast-conserving surgery and sentinel lymph node dissection. Of the 3,326 lymph node specimens the researchers examined by immunohistochemistry, 10.5 percent were positive for tumor and of the 3,413 bone marrow samples tested by immunocytochemostry, 3 percent were found to be tumor-positive. At median follow-up of 6.3 years, 435 patients had died and 376 had disease recurrence, the team writes, which suggests that immunohistochemical evidence of sentinel lymph node metastases was not significantly associated with overall survival. Bone marrow metastases, on the other hand, were associated with decreased overall survival, the authors add.

Also in JAMA this week, researchers in Ohio and Maryland present preliminary findings from a study of germline mutations in the MSR1, ASCC1, and CTHRC1 genes in patients with Barrett's esophagus syndrome and esophageal adenocarcinoma — Barrett's esophagus is considered a precursor to esophageal adenocarcinoma. The researchers studied 21 concordant-affected sibling pairs with Barrett's esophagus or esophageal adenocarcinoma, 11 discordant sibling pairs, 176 white Barrett's esophagus or esophageal adenocarcinoma patients, and 200 ancestry-matched controls to identify possible risk alleles or mutations for the disease. Three major genes — MSR1, ASCC1, and CTHRC1 — were found to be associated with Barrett's esophagus and esophageal adenocarcinoma. "In addition, 13 patients (11.2 percent) with BE/EAC carried germline mutations in MSR1, ASCC1, or CTHR1," the authors write. "MSR1 was the most frequently mutated."

The Scan

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.

Team Presents Cattle Genotype-Tissue Expression Atlas

Using RNA sequences representing thousands of cattle samples, researchers looked at relationships between cattle genotype and tissue expression in Nature Genetics.

Researchers Map Recombination in Khoe-San Population

With whole-genome sequences for dozens of individuals from the Nama population, researchers saw in Genome Biology fine-scale recombination patterns that clustered outside of other populations.

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.