A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells

BMC Cancer

Table 1 Candidate somatic mutations identified in each patient

Patient	Subgroup	Gene	Genomic change	Protein change	Class	VAF	COSMIC v71
Case 1	HD	NRAS	g.chr1:115258744C > T	p.G13D	Missense	0.48	Haematopoietic and Lymphoid tissue
		ACD/TPP1	g.chr16:67693443C > A	p.G223V	Missense	0.51	-
		DOT1L	g.chr19:2191086G > T	p.V114F	Missense	0.46	-
Case 2	t(12;21)	BRAF	g.chr7:140481411C > G	p.G466A	Missense	0.15	Thyroid
Case 2	t(12;21)	HCFC1	g.chrX:153230064A > G	p.Y103H	Missense	0.51	-
Case 3	CN	FLT3	g.chr13:28592642G > T	p.D835Y	Missense	0.44	Haematopoietic and Lymphoid tissue

Variant allele frequencies (VAF) (number of supporting reads/coverage) were calculated based on ultra-deep targeted re-sequencing data (mean coverage >1800X). Only tissue types harbouring the highest occurrence of the mutation in the COSMIC database (v71) are presented. HD hyperdiploid, CN Cytogenetically normal

ISSN: 1471-2407