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Table 1 Clinical data and histopathological data of the proband and family members

From: A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis

ID Age (years) Diagnosis Age at
diagnosis
APC pathogenic variant Colonic manifestation Extracolonic manifestation
Colonic polyps Rectum polyps CHRPE Gastric polyps
II:7-a  > 60 FAP 62 Yes N/A N/A N/A N/A
III:5 51–60 Normal 48 No N/A N/A N/A N/A
III:8 41–50 Normal 40 No N/A N/A N/A N/A
III:10 41–50 FAP 38 Yes  > 1000  < 20 None None
III:11 31–40 Normal / No N/A N/A N/A N/A
III:13 41–50 AFAP 36 Yes  < 10  < 20 N/A None
III:15 31–40 Normal / No N/A N/A N/A N/A
III:17pro 31–40 Sigmoid CA 30 Yes  > 1000  < 20 None Gastric polyps
III:19 21–30 FAP 24 Yes  > 1000  < 20 None Gastric polyps
III:21 21–30 Normal / No N/A N/A N/A N/A
III:22b Deceased Rectal CA 29 Yes  > 1000  < 20 N/A Gastric polyps
III:23 31–40 FAP 31 Yes  > 1000  < 20 None Gastric polyps
III:36 41–50 Sigmoid CA 44 Yes  > 1000  < 20 None Gastric polyps
IV:1 31–40 Normal / No N/A N/A N/A N/A
IV:14c  < 20 Normal 10 Yes N/A N/A N/A N/A
IV:15  < 20 Normal / No N/A N/A N/A N/A
IV:16  < 20 Normal / No N/A N/A N/A N/A
IV:18  < 20 FAP 15 Yes  > 100  < 20 None Gastric polyps
IV:19c  < 20 Normal 7 Yes N/A N/A None N/A
  1. a, II:7 can’t follow up; b, III:22 was deceased prior to the present study; c, IV:14 and IV:19 were too young for the colonoscopy; pro, proband; AFAP, attenuated familial adenomatous polyposis; CHRPE, congenital hypertrophy of the retinal pigment epithelium; CRC, colorectal cancer; F, female; FAP, familial adenomatous polyposis; M, male; N/A, not applicable due to neither the colonoscopy nor EGD was not performed