A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Carolina VelázquezEnrique LastraFrancisco Avila CobosLuis AbellaVirginia de la CruzBlanca Ascensión HernandoLara HernándezNoemí MartínezMar InfanteMercedes Durán

Published in: Journal of translational medicine (2020)

Our results reinforce the utility of NGS gene panels in the diagnostic routine to increase the performance of genetic testing, especially in individuals from families with overlapping cancer phenotypes.

Keyphrases

papillary thyroid
squamous cell
clinical practice
childhood cancer
gene expression
genome wide
young adults
dna methylation
copy number
oxidative stress
transcription factor
loop mediated isothermal amplification
quantum dots