Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

María Carolina Manotas Ana Lucia Rivera María Carolina Sanabria-Salas

Published in: Molecular genetics & genomic medicine (2023)

Most VUS were reclassified as benign/likely benign. Since false-positive and -negative results can be obtained with automated tools, manual curation should also be used as a complement. Our results contribute to improving cancer risk assessment and management for a broad range of hereditary cancer syndromes in Hispanic/Latino populations.

Keyphrases

papillary thyroid
risk assessment
squamous cell
machine learning
african american
gene expression
childhood cancer
heavy metals
transcription factor
climate change
single cell