Genetic variations may predict outcomes for colorectal cancer patients
Image: PD 1. Single nucleotide polymorphisms (SNPs) in LKB1, AMPK, and TSC1 genes were identified as predictive of decreased patient...
Genetics
Reports of high-impact genetics studies by medical professionals
HLA-DRB1*07:01 confirmed as risk factor for lapatinib-induced liver damage
Image: PD 1. HLA-DRB1*07:01 and HLA-DQA1*02:01 are strongly associated with liver injury among patients with HER2+ primary breast cancer taking...
2 Minute Medicine Rewind March 10 – 17, 2014
Image: PD In this section, we will highlight the key high-impact studies, updates, and analyses published in medicine during the...
Whole genome sequencing not yet practical for the clinical setting
Image: PD 1. Between 10% to 19% of genes associated with inherited disease were not covered at a minimum standard...
DNA methylation associated with higher body-mass index
Image: PD 1. DNA methylation at three sites within the intron of the gene HIF3A on chromosome 19 was associated...
2 Minute Medicine Rewind February 24th – March 2nd, 2014
In this section, we will highlight the key high-impact studies, updates, and analyses published in medicine during the past week....
![Maternal cell-free DNA sequencing superior to standard aneuploidy screening [CARE Study]](https://www.2minutemedicine.com/wp-content/uploads/2014/02/47-karyotype-350x250.jpg)
Maternal cell-free DNA sequencing superior to standard aneuploidy screening [CARE Study]
Image: CC 1. Maternal plasma cell-free DNA (cfDNA) testing had significantly lower false positive rates and higher positive predictive values...
Mitochondrial dysfunction identified in the pathogenesis of renal Fanconi’s syndrome
Image: PD 1. A missense mutation in the gene encoding the enzyme, EHHADH was identified in all members of a...
New gene associated with essential thrombocytopenia and primary myelofibrosis
Image: PD 1. Mutations in the gene encoding calreticulin (CALR) were found in a majority of patients with non-JAK2, non-MPL...
A new genetic test for susceptibility to dapsone hypersensitivity syndrome
Image: PD 1. The HLA-B*13:01 allele was strongly associated with dapsone hypersensitivity syndrome. 2. The presence of the allele is...