When oncology practices offer testing and evaluation services, such as the GREAT program, they can do more than just treat the disease. Testing provides an opportunity to develop cancer prevention and early detection strategies for patients and their at-risk family members. For those with mutat...
What we can discover in those unfurrowed fields is what is important to patients, why it is important, and how it influences the way patients makes sense of complex biomedical information and what they should do with it. Fear of going through treatment for cancer after having watched their pa...
Studies have characterized the immune escape landscape across primary tumors. However, whether late-stage metastatic tumors present differences in genetic immune escape (GIE) prevalence and dynamics remains unclear. We performed a pan-cancer characteriza
Drug resistance is a principal limitation to the long-term efficacy of cancer therapies. Cancer genome sequencing can retrospectively delineate the genetic basis of drug resistance, but this requires large numbers of post-treatment samples to nominate ca
Table 1. Allele frequency and effect sizes associated with high, moderate and intermediate penetrance variants, and their estimated contribution to the FRR for breast cancer. LocusRefGenes in/near regionVariantMAFRRFRR explainedb High penetrance mutations 17q21 (Antoniou et al., 2008a) BRCA1 0.0006...
Over the past decades, NA drugs including DNA- and RNA-based therapeutics, have been widely exploited to treat a wide range of diseases, especially genetic disorders, and cancers. The first attempt to deliver a gene coding for resistance to neomycin into lymphocytes harvested from cancer patients...
Therefore, many compounds have been developed and assessed to produce novel anti-cancer drugs related to this interaction. The first small compound demonstrated to impede YAP-TEAD binding was verteporfin, a photosensitizer utilized therapeutically in photodynamic treatment for neovascular macular degeneration...
In contrast, for in breast and colon cancer predisposition testing, an indeterminate result may occur, which can be a source of continued distress.5., 6., 7., 8. For people whose test results convey that they carry the disease gene, the results provide foreknowledge that may promote life...
1e). Accordingly, we performed a linear regression analysis between CSF sST2 level and AD and Aβ plaque load, adjusting for age, sex and postmortem duration (PMD), followed by multiple testing correction. Concordant with the regulation of plasma sST2 level in AD, in the UK Brain Banks ...
Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels acr...