NEK11 as a candidate high-penetrance melanoma susceptibility gene.

Eirini ChristodoulouRemco van DoornMijke VisserAmina TeunisseMieke VersluisPieter van der VeldenNicholas K HaywardAart JochemsenNelleke Gruis

Published in: Journal of medical genetics (2019)

The NEK11 p.Arg374Ter variant identified in this family leads to loss-of-function through protein instability. Collectively, these findings support NEK11 as a melanoma susceptibility gene.

Keyphrases

copy number
genome wide
genome wide identification
skin cancer
gene expression
binding protein
protein protein
basal cell carcinoma