Table 2. Clinicopathological and molecular features of patients with MMR deficiency.

Case	Age/Sex	Location	Stage	MSI	Immunohistochemistry*				Other tumors	Family history2	BRAF status	MLH1methylation	LINE-1 methylation (%)
					MLH1	PMS2	MSH2	MSH6				(%)
2ARG	46 F	Ascending	II	MSI	P	P	L	L	Colon (46)	No	wt		53
63ARG	12 M	Rectum	IV	MSI	P	P	L	L	No	No	wt		53
90ARG	19 M	Caecum	IV	MSI	P	P	L	L	No	No	wt		59
24ARG	34 M	Hepatic flexure	I	MSI	P	P	L	L	No	No	wt		69
23ARG	30 F	Sigmoid	III	MSI	P	P	L	L	No	No	ND		71
71ARG	38 F	Rectum	II	MSI	P	P	L	L	No	Pancreas (mother, 52); Colon (uncle, 55); Colon (cousin, 44)	wt		60
16ARG	52 F	Caecum	III	MSI	P	P	L	L	No	No	wt		63
97ARG	54 F	Ascending	II	MSI	P	P	L	L	No	No	wt		59
84ARG	56 M	Rectum	I	MSI	P	P	L	L	Colon (40)	Colon (sister, 37 and 49); Colon (father, 37)	wt		66
62ARG	57 F	Rectum	III	MSI	P	P	L	L	No	No	wt		49
76ARG	53 M	Caecum	II	MSI	P	P	L	L	No	No	wt		51
77ARG	59 F	Ascending	III	MSS	P	P	P	L	No	Colon (grandmother, 65)	wt		62
19ARG	37 F	Caecum	II	MSI	L	L	P	P	No	No	wt	2	66
101ARG	43 F	Descending	II	MSI	L	L	P	P	No	No	wt	27	64
46ARG	42 M	Caecum	II	MSI	L	L	P	P	No	No	wt	25	59
93ARG	33 M	Splenic flexure	II	MSI	L	L	P	P	No	No	wt	1	61
49ARG	43 M	Caecum	II	MSI	L	L	P	P	No	No	wt	26	63
37ARG	49 F	Caecum	III	MSI	L	L	P	P	No	No	mutated	88	64
38ARG	50 M	Descending	III	MSI	L	L	P	P	No	No	wt	2	66
115ARG	55 F	Rectum	II	MSI	L	L	P	P	No	No	wt	51	64
21ARG	15 F	Caecum	III	MSS	P	L	P	P	No	No	wt		71
113ARG	36 M	Descending	III	MSI	P	L	P	P	No	No	wt		47
18ARG	58 M	Hepatic flexure	II	MSI	P	L	P	P	No	No	wt		62
79ARG	51 M	Transverse	III	MSI	P	L	P	P	No	Colon (aunt, 76)	wt		61
108ARG	41 M	Ascending	II	MSI	L	P	P	P	No	No	wt	1	65
112ARG	28 F	Rectum	III	MSI	P	P	P	P	No	No	wt		63
82ARG	26 M	Caecum	III	MSI	P	P	P	P	No	Colon (mother, 52); Colon (aunt, 46)	wt		63

MMR: mismatch repair; MSI: microsatellite instability; MSS: microsatellite stability; ND: not determined; wt: wild-type; P: present; L: loss of expression.

¹Solid cells indicate loss of protein expression,

²Affected relative and age at diagnosis are indicated between parentheses.