Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study

Table 4 Correlation between gene mutations and tumor phenotype

Patient ID	Gene mutations	Polyp number	Colectomy	CRC (location)	Age at the diagnosis of CRC	Extracolonic manifestation
1	APC, PIEZO1	> 100	Prophylactic RP-IPAA	Yes (coecum)	24.5	Duodenal and gastric polyp
2	APC, PIEZO1	> 100	Prophylactic RP-IPAA	No		Duodenal and gastric polyp
3	POLE, NTHL1, CHEK2	10-100	Prophylactic RP-IPAA	Yes (coecum, ascending colon)	31	No
4	POLE, NTHL1, PIK3CA, CHEK2	10-100	No	No		No
5	PDGFRA, CHEK2	10-100	No	No		No
6	APC	> 100	Prophylactic RP-IPAA	No		Duodenal and gastric polyp
7	POLE	> 100	Prophylactic RP-IPAA	No		Ovarian tumor
8	APC, FLCN, POLE	> 100	Therapeutic RP-IPAA	Yes (sigmoid colon)	50.5	No
9	APC	> 100	Prophylactic RP-IPAA	No		No
10	APC	> 100	Therapeutic RP-IPAA	Yes (rectum)	49.5	No
11	APC	10-100	No	No		No
12	APC	> 100	Prophylactic RP-IPAA	No		No
13	APC, ATM MSH3	> 100	Prophylactic RP-IPAA	No		No
14	APC	10-100	No	No		No
15	APC	> 100	Prophylactic RP-IPAA	No		No
16	APC, CHEK2, PIEZO1	> 100	Prophylactic RP-IPAA	No		Breast cancer
17	APC	> 100	Prophylactic RP-IPAA	No		No
18	APC, PMS2, CHEK2	> 100	Prophylactic RP-IPAA	No		Duodenal polyp
19	MSH3	10-100	No	No		No
20	APC	10-100	No	No		No
21	MSH3 (pathogenic), MSH3	10-100	Therapeutic RP-IPAA	Yes (rectum)	64	No
22	APC, CHEK2	> 100	Therapeutic RP-IPAA	Yes (sigmoid colon)	31	Testis cancer
23	APC, PIEZO1, POLE, RNF43	> 100	No	No		No
24	APC	> 100	Therapeutic RP-IPAA	Yes (rectum, hepatic flexure)	48	Gastric polyp
25	APC	> 100	Prophylactic RP-IPAA	No		Desmoid tumor
26	APC	10-100	No	No		No

CRC: Colorectal cancer; RP-IPAA: Restorative proctocolectomy with ileal pouch anal anastomosis.