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Table 1 Clinical and molecular characteristics of patients with mutations

From: Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition

Patients with APC mutations
Casea Age at diagnosis Phenotype Family History (transmission) Additional informations APC Mutation Exon Effect
GD22 45 FAP yes (vertical) osteomas, desmoids, duodenal cancer c.646-1 G > Ab 7 Criptic splice site fsX292
GD23 n.a. FAP yes   c.4666dupb 16 p.Thr1556_AsnfsX1558
GD31 72 FAP yes (vertical) >1000 polyps, colon cancer c.3183_3187delb 16 p.Lys1061_LysfsX1062
GD33 n.a FAP yes (vertical)   c.904 C > Tb 9 p.Arg302X
GD37 41 AFAP yes (vertical) ileal polyps, colon cancer, c.1176_1177insTb 10 p.His393_PhefsX396
GD38 35 FAP yes (vertical) CHRPE, osteomas c.4717 G > Tb 16 p.Glu1573X
GD41 24 FAP yes (vertical) gastric and ileal polyps c.2684 C > Ab 16 p.Ser895X
GD48 33 FAP yes (vertical) duodenal polyps c.2758_2759delb 16 p.Asp920_CysfsX922
GD57 22 FAP no   c.2299 C > Tb 16 p.Gln767X
GD58 48 FAP no   c.4393_4394delb 16 p.Ser1465_TrpfsX1467
GD59 31 FAP yes (vertical)   c.4192_4193delb 16 p.Ser1398_SerfsX1407
GD74 27 FAP yes (vertical) >100 polyps, desmoids, colon cancer ex15del 15 ∆ 15
GD103 55 FAP no   c.694 C > Tb 7 p.Arg232X
GD119 26 FAP yes (vertical) duodenal polyps, rectal cancer c.2633delT 16 p.Leu878_CysfsX916
Patients with MUTYH mutations
Casea Age at diagnosis Phenotype Family History (transmission) Additional informations MUTYH Mutation Exon Effect
GD68 45 AFAP no 40 polyps [c.536A > G]+ 7, 12 [p.Tyr179Cys]+
[c.1163 T > C]b [p.Leu388Pro]
GD72 29 FAP yes (vertical)   [c.536A > G] + [c.=]b 7 [p.Tyr179Cys] + [p.=]
GD82#1 49 Multiple polyposis yes (horizontal) caecum cancer [c.536A > G]+ 7, 10 [p.Tyr179Cys]+
[c.820C > T]b [p.Arg274Trp]
GD82#2 54 Colon cancer yes (horizontal)   [c.536A > G]+ 7, 10 [p.Tyr179Cys]+
[c.820C > T] [p.Arg274Trp]
GD91 30 Multiple polyposis no 100 polyps [c.1145del]+ 12 [p.Ala382AlafsX407]+
[c.1145del]b
[p.Ala382AlafsX407]
GD155 70 AFAP no   [c.536A > G] + [c.=] 7 [p.Tyr179Cys] + [p.=]
  1. aIdentification number is followed by number of individual if several members were investigated per family
  2. bData from [24]
  3. n.a. = not available