Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma

Table 1 Reported Germline AXIN2 Variants in Patients with Neuroblastoma

Publication	N	Diagnosis Age	Location	Variation	cDNA change	Protein change	Exon	ExAC	ClinVar	SIFT	PolyPhen2
Lasorsa^ab	1	22 months	Adrenal	missense	c.684G > C	p.L228F	2	Absent	Absent	deleterious	damaging
	2	10 months	Adrenal	non-frameshift deletion	c.1144_1149del	p.382_383del	5	Absent	Absent	–	–
	3	24 months	Not specified	missense	c.1151A > G	p.E384G	5	Absent	Variant of Uncertain Significance	tolerated	benign
	3	24 months	Not specified	missense	c.1878 T > G	p.S626R	7	8.26e-06	Absent	deleterious	benign
This publication -Macklin^c	4	49 years	olfactory	frameshift deletion	c.1822del	p.L608*	7	Absent	pathogenic	–	–

^aLasorsa VA, et al. Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression. Oncotarget. 2016 Apr 19;7 (16):21840–52. ^bNM_004655. ^cNM_004655.3

ISSN: 1471-2350