NEK11 as a candidate high-penetrance melanoma susceptibility gene

Cutaneous melanoma is an aggressive type of cancer developing from pigment-producing cells of the skin. Clustering of melanoma in at least two first degree relatives indicates a genetic contribution to the disease. Our general aim was to provide insight into the genetic basis of familial melanoma. We report on the identification of a novel co-segregating variant, in the checkpoint regulatory gene, NEK11, by application of Whole Exome Sequencing analysis. We further showed somatic loss of the wildtype allele in the melanoma of a NEK11 mutation carrier and demonstrated loss-of-function through protein instability. Collectively our findings support NEK11 as a candidate melanoma susceptibility gene.  (By Eirini Christodoulou, https://jmg.bmj.com/content/early/2019/11/08/jmedgenet-2019-106134 )

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