This cohort study investigates clearance patterns of somatic mutations in acute myeloid leukemia patients given induction chemotherapy, and associations between those patterns and clinical outcomes.
Using colon cancer registry data, these investigators found that in women with a mismatch repair gene mutation, hormonal factors such as age at menarche, parity, and use of hormonal contraceptives were associated with a lower risk of endometrial cancer.
This observation trial reports that whole-exome sequencing provides a potential molecular diagnosis for patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations, contributing to disease.
To determine the molecular basis of multiple respiratory chain complex deficiencies, Taylor and coauthors used a whole-exome sequencing approach in 53 patients with biochemical evidence of multiple respiratory chain complex defects but no primary pathogenic mitochondrial DNA mutation.
Kris and coauthors determine the frequency of oncogenic drivers in patients with lung adenocarcinomas and use the data to select treatments targeting the identified driver(s) and measure survival among 1007 US patients with metastatic lung adenocarcinomas.
Dewey and colleagues found that depending on the sequencing platform used, there was incomplete coverage of inherited disease genes, low reproducibility of potentially clinically significant genetic variation, and uncertainty about clinically reportable findings.
Steele and coauthors assess the association between chronic mild hyperglycemia and complication prevalence and severity among 271 participants in the United Kingdom.