Table 2.

Clinicopathological characteristics of pathogenic variants

Pathogenic variant	Sex	Race	Current age, y	Age at CRC diagnosis, y	Other personal history of cancers	Family history of cancers in first-degree relatives	MMR status
APC c.1884_1885delTT	Male	Indian	34	29	Familial adenomatous polyposis; multiple gastric and colonic polyps	Not recorded*	Not recorded
APC c.3921_3925del AAAAG	Female	Indian	23	18	Familial adenomatous polyposis; single gastric and multiple colonic polyps	Mother (adenomatous polyposis coli)	Not recorded
APC c.4615delT	Male	Chinese	39	32	Gardner syndrome, with synchronous desmoid tumor at 32yo; multiple gastric and colonic polyps	Mother (cervical cancer); siblings had negative findings on colonoscopy	Not recorded
APC c.3928A>T	Male	Chinese	29	22	Familial adenomatous polyposis; multiple gastric and colonic polyps	Paternal cousin (unknown cancer); no family history of FAP	Proficient
MUTYH c.857G>A	Male	Chinese	Deceased at 50	49	None	Not recorded	Not recorded
MUTYH c.934-2A>G	Female	Chinese	53	49	None	Sister (uterine cancer, 60yo); brother (colon cancer, 63yo)	Proficient
ATM c.477_481delATCTC	Male	Chinese	41	36	None	None	Proficient
BRCA2 c.9154C>T	Male	Chinese	52	46	None	Father (Gastric cancer, 63yo)	Proficient
NTHL1 c.793G>A	Male	Chinese	56	48	None	Mother (colon cancer, 68yo)	Proficient
PALB2 c.1059delA	Male	Chinese	48	46	None	Father (lung cancer, 30yo); paternal uncle (colon cancer, 60yo); paternal aunt (breast cancer, 67yo); maternal uncle (melanoma, 40yo); maternal aunt (breast cancer)	Proficient
WRN c.499_500delAA	Female	Chinese	48	44	Krukenberg tumor, 44yo	Father (colon cancer, 75yo); paternal aunt (colon cancer, 60yo); maternal aunt (uterine cancer); maternal cousin (ovarian cancer)	Proficient
WRN c.499_500delAA	Male	Chinese	55	49	None	Father (stomach cancer); brother (colon cancer)	Proficient

^*Not recorded in the patient’s electronic medical records. CRC = colorectal cancer.