Skip to main content

Table 1 APC germline mutations identified in Greek FAP patients with supportive clinical data

From: Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients

Family ID Exon Mutation Consequence Age at diagnosis Phenotype Cancer Reason for diagnosis
F1195 3 c.340delC p.Pro114LeufsX11 49 50-100 colorectal polyps N symptoms
F1275 4 c.520_523delCCTT p.Pro174X1 30 50-100 colorectal polyps N family member
F75 6 c.694C > T p.Arg232X 37 50-100 colorectal polyps N symptoms
F1270 8 c.835-8 A > G aberrant splicing of ex. 7 38 100-200 colorectal polyps N symptoms
F76 9 c.1234 C > T p.Gln412X & aberrant splicing of ex. 9 30 30-50 colorectal polyps N symptoms
F1196 9 c.1263G > A p.Trp421X 28 100-1000 colorectal polyps, UGI polyps, desmoids Y symptoms
F113 11 c.1495C > T p.Arg499X 51 100-1000 colorectal polyps N symptoms
F741 11 c.1495C > T p.Arg499X 40 100-200 colorectal polyps N symptoms
F880 15A c.2181_2182insG p.Asn728GlufsX6 26 100-1000 colorectal polyps N family member +symptoms
F160 15B c.2413 C > T p.Arg805X 23 100-1000 colorectal polyps, desmoids, thyroid cancer Y family member
F1186 15C c.2701C > T p.Gln901X 28 100-1000 colorectal polyps Y family member +symptoms
F899 15D c.2821G > T p.Glu941X 23 50-100 colorectal polyps N family
F274 15D c.2991 T > A p.Tyr997X 56 100-1000 colorectal polyps N symptoms
F474 15D c.2991 T > A p.Tyr997X 26 100-1000 colorectal polyps N family member
F83 15E c.3183_3187delACAAA p.Gln1062FsX1 36 100-1000 colorectal polyps Y symptoms
F446 15E c.3189_3192delTGAG p.Glu1064LysfsX61 34 100-1000 colorectal polyps N family member
F71 15E c.3214delA p.Ser1072ValfsX54 35 100-1000 colorectal polyps N symptoms
F50 15E c.3260_3261delTC p.Leu1087GlnfsX31 23 100-1000 colorectal polyps N symptoms
F85 15G c.3830delT p.Leu1277TyrfsX11 28 > 1000 colorectal polyps, 150 UGI polyps N family member +symptoms
F153 15I c.4508C > G p.Ser1503X 48 100-200 colorectal polyps N symptoms
  1. cDNA numbering is based on reference sequence: GenBank NM_000038. +1 corresponds to the A of the ATG translation initiation codon. Novel mutations are highlighted in boldface.