My Linh Thibodeau

Abstract Germline structural variants (SVs) are challenging to resolve by conventional genetic testing assays. Long-read sequencing has improved the global characterization of SVs, but its sensitivity at cancer susceptibility loci has not been reported. Nanopore long-read genome sequencing was performed for nineteen individuals with pathogenic copy number alterations in BRCA1, BRCA2, CHEK2 and PALB2 identified by prior clinical testing.

Whole genome and whole transcriptome analysis of this case of metastatic EP provided insight into the complex molecular pathophysiology of this rare tumour. Overall, somatic SNV, CNV/LOH and SV were scarce when compared to other cutaneous tumours or even non-cancerous sun-exposed skin.9 However, some key components of cell cycle regulation and Wnt pathways were somatically altered, and will be further discussed below.