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The Genotype-Tissue Expression (GTEx) project
TLDR
The Genotype-Tissue Expression (GTEx) project is described, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.
Integrated Genomic Analyses of Ovarian Carcinoma
TLDR
It is reported that high-grade serous ovarian cancer is characterized by TP53 mutations in almost all tumours (96%); low prevalence but statistically recurrent somatic mutations in nine further genes including NF1, BRCA1,BRCA2, RB1 and CDK12; 113 significant focal DNA copy number aberrations; and promoter methylation events involving 168 genes.
Comprehensive molecular characterization of human colon and rectal cancer
TLDR
Integrative analyses suggest new markers for aggressive colorectal carcinoma and an important role for MYC-directed transcriptional activation and repression.
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
TLDR
The interim integrative analysis of DNA copy number, gene expression and DNA methylation aberrations in 206 glioblastomas reveals a link between MGMT promoter methylation and a hypermutator phenotype consequent to mismatch repair deficiency in treated gliobeasts, demonstrating that it can rapidly expand knowledge of the molecular basis of cancer.
Comprehensive genomic characterization of squamous cell lung cancers
TLDR
It is shown that the tumour type is characterized by complex genomic alterations, with a mean of 360 exonic mutations, 165 genomic rearrangements, and 323 segments of copy number alteration per tumour.
Hemochromatosis and iron-overload screening in a racially diverse population.
TLDR
The C282y mutation is most common in whites, and most C282Y homozygotes have elevations in serum ferritin levels and transferrin saturation values in nonwhites.
Recommendations for follow-up care of individuals with an inherited predisposition to Cancer. II. BRCA1 and BRCA2
TLDR
It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.
Informed consent for genetic research on stored tissue samples.
TLDR
informed consent is required for all genetic research using linkable samples unless conditions for limitation or waiver are met and institutional review boards could usefully review all protocols that propose to use samples for genetic research.
Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: I. Hereditary Nonpolyposis Colon Cancer
TLDR
It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.
Hereditary hemochromatosis: gene discovery and its implications for population-based screening.
TLDR
Genetic testing is not recommended at this time in population-based screening for hereditary hemochromatosis, due to uncertainties about prevalence and penetrance of HFE mutations and the optimal care of asymptomatic people carrying H FE mutations.
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