Jejunal Cancer with WRN Mutation Identified from Next-Generation Sequencing: A Case Study and Minireview

Table 3

Gene sequencing results for the Asian patient. Mutation information is provided accordingly.

Genomic profiling	Variant	SNP ID	Zygosity	References
PMS2 mutation	NM_000535.5:c.59G>A,; p.Arg20Gln	rs10254120	Heterozygous	[29, 30]
WRN mutation	NM_000553.4:c.1882C>G,; p.Leu628Val	rs77969734	Heterozygous	[31]

Next-generation sequencing (NGS): genomic DNA was isolated from submitted specimens. DNA was barcoded and enriched for the coding exons of queried genes using hybrid capture technology. The prepared DNA library was then sequenced using a next generation sequencing platform. Variants were detected in regions of 20x coverage where 20% of alleles were variant. 93% of targeted regions had at least 20x coverage. The remaining regions did not have 20x coverage and were not evaluated. The following variants were filtered: those with dsSNP minor allele frequency >1%, those noted as nonpathogenic in dsSNP, and those not resulting in amino acid alterations when no obvious splicing effect was anticipated. The remaining variants were interpreted manually.