Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report

Table 1 Somatic variants may initiate tumor development

SNP ID	Gene	Chrs	Gene Region	Function	Cancer-promoting gene	Diseases
rs188382333	ABCA6	17	exonic	nonsynonymous SNV	Y	Colorectal cancer, acute myeloid Leukemia
rs201064036	C6	5	exonic	nonsynonymous SNV	Y	C6 deficiency
rs79930314	CCDC144NL	17	exonic	Stop gain	N	Colorectal cancer; Renal cancer
rs41291550	CYP2C18	10	exonic	Stop gain	N	NA
rs1799931	NAT2	8	exonic	nonsynonymous SNV	N	Slow acetylation
rs192410865	NOX3	6	exonic	Stop gain	N	NA
NM_000438:exon2:c.232G>A:p.V78M	PAX3	2	exonic	nonsynonymous SNV	Y	Alveolar rhabdomyosarcomas, type1 and type3 Waardenburg syndrome
rs138133378	SCN7A	2	exonic	nonsynonymous SNV	N	NA
rs117153533	TC2N	14	exonic	nonsynonymous SNV	N	Colorectal cancer,
rs201277886	TOX	8	exonic	nonsynonymous SNV	N	Colorectal cancer, virus-associated hepatocellular cancer, gastric cancer, esophageal cancer

Each SNP was searched in the following databases to confirm its correlation with diseases and whether it belongs to a cancer-promoting gene: ClinVar, ICGC, COSMIC, HGMD and OMIM

ISSN: 1471-2350