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Table 1 Summary of genotypes and phenotypes

From: Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

Family number APC gene mutation Consequence Type colonic polyposis (A, P, C) Colonic adenoma age Duodenal adenoma age Gastric adenoma age Other tumor type and location, Age Family origin
A43/M c.824delA p.N276fs C 32 - - adenoma, ureter/32 Sweden
A8/F c.1120G>T p.S373X C 14 31 32 - Sweden
A19/M c.1409-1G>A intron 10 splice site C 28 31 32 - Sweden
A46-1/F c.1582_1583insGC p.A529fs C 13 27 27 papillary cancer, thyroid/19 Sweden
A46-2/F c.1582_1583insGC p.A529fs C 18 38 40 papillary cancer, thyroid/28 Sweden
A29/M c.1690C>T p.R564X C 42 - - - Sweden
A34/F c.1958G>T exon 15 splice site P 44 44 - colon cancer/45 Gambia
A26/F c.3921_3925delAAAAC p.I1307fs C 22 40 47 - Sweden
A37/M del exon 1–15 c.1-?_8532+?del C 22 24 26 - Sweden
A40/M del exon 1–15 c.1-?_8532+?del C 42 48 - adenomyoma, gall bladder/44 Macedonia
A47/M c.4348C>T p.R1450X C 20 - - desmoid tumor, retroperitoneum/20 Iceland
A30/F c.5030_5031insAA p.G1784fs A 72 73 73 osteoma/NA three synchronous colon cancers/72 Sweden
        desmoid tumor, abdominal wall/73  
        osteoma/73 adenocarcinoma, small intestine/74  
  1. A: attenuated FAP, P: profuse FAP, C: classical FAP
  2. NA: not available