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

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

ID	Age (years)	Diagnosis	Age at diagnosis	APC pathogenic variant	Colonic manifestation		Extracolonic manifestation
ID	Age (years)	Diagnosis	Age at diagnosis	APC pathogenic variant	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:17^pro	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:22^b	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:14^c	< 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:19^c	< 20	Normal	7	Yes	N/A	N/A	None	N/A

^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

ISSN: 1755-8794