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Table 2 Clinical features and variants detected by NGS in patients with somatic APC mosaicism

From: Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis

ID Age at onset Number of polyps Colorectal carcinoma Family history Specimen Mutation detected Variant callers (variants allele frequency) Median depth Confirmation test
HC MuTect2 VarScan2 Pindel
P1 40~49 100 s No None leukocyte c.3295_3296del p.Val1099PhefsTer19 ND 0.077 ND 0.068 2668 MEMO-PCR
P1   polyp c.3295_3296del p.Val1099PhefsTer19 0.206 0.206 0.228 0.197 790  
P2 40~49 100 s Adenocarcinoma None leukocyte c.3860_3861dup p.Gly1288Ter ND 0.035 0.094 0.032 2497 MEMO-PCR
P3 30~39 200 s No None leukocyte c.3577_3578del p.Gln1193ValfsTer14 ND 0.003 ND 0.003 4076 Tissue
P4 50~59 50–70 Adenocarcinoma None leukocyte c.1754delT p.Leu585ProfsTer5 ND 0.018 ND 0.020 2960  
P5 40~49 30–50 No Maternal rectal cancer at the age of 70 leukocyte c.694C > T p.Arg232Ter ND 0.034 ND ND 2185 Tissue
P6 40~49 20–30 No None leukocyte c.3566C > G p.Ser1189Ter 0.114 0.114 0.114 ND 3624 Sanger sequencing
P7 30~39 300 s Adenoma None leukocyte c.3211_3238dup p.Glu1080AlafsTer10 0.195 0.275 ND 0.174 1310 Sanger sequencing
  1. HC HaplotypeCaller, MEMO Mutant enrichment with 3′-modified oligonucleotides, ND Not detected