Colonic adenocarcinoma in a pediatric patient: A case report and review of literature

Table 1 Whole exome sequencing and whole genome sequencing carriership findings

Gene	Variant	Zygosity	Type	Classification1	Implication
DOCKB	NM_203447.3:c.2606-1G>A	Heterozygous	Splicing	Likely pathogenic (class 2)	Hyper IgE syndrome 2 with recurrent infections
HJV	NM_213653.3:c.225dup	Heterozygous	Frameshift	Pathogenic (class 1)	Albinism, oculocutaneous, type IV
SLC45A2	NM_016180.3:c.-492_-489delAATG	Heterozygous	Non-coding	Pathogenic (class 1)	Hemochromatosis, type 2A

¹Based on the American College of Medical Genetics recommendation.

Table 2 FoundationOne CDx panel for solid tumors

Gene	HGVS variant	Chromosomal position	Variant’s origin	Variant’s type	Variant allele frequency	Clinical actionability
SMAD4	NM_005359.5:c.1512T>A (p.S504R)	chr18:48604690	Somatic	Missense	5.6%	No therapies or clinical trials
SMARCA4	NM_003072.3:c.1943+1G>T (p.?)	chr19:11113836	Somatic	Splice site	6.3%	No therapies or clinical trials

HGVS: Human genome variation society.