Understanding the frequency and nature of variants in cancer predisposition genes is important for planning of clinical services. Our analysis highlights the implications of more expansive genetic testing and the variant interpretation considerations necessary to yield benefit and avoid harm (eg, unnecessary surveillance) for patients.
[Articles] Interpretation of constitutional cancer predisposition gene variants in 14 765 individuals in the 100 000 Genomes Project cancer arm: a retrospective cohort analysis
The Lancet Oncology | | James Whitworth, Valerie Yawen Wang, Daniella Black, Helen Ruth Davies, Andrea Degasperi, Diana Prepelita, Serena Nik-Zainal
Topics: prevention