Table 2.

Clinical attributes of the 12 patients who tested positive for the indel

Patient	Proband location	Sex/age at diagnosis	Site of cancer	Criteria met‡	No. of affected* parents	No. of affected* siblings	Microsatellite status unstable/No. typed	de novo status	Ancestral information†
1	USA	♂ 49 years	Rectum	Bethesda	0	0(1)	6/9	Unknown	pat—Ger; mat—Swe/Nor
2	Canada	♀ 44 years	Ascending	Bethesda	0	1(14)	2/2	Unknown	pat—Eng; mat—Eng/USA
3	USA	♂ 46 years	Splenic flexure	Bethesda	1	0(9)	5/5	Mother was an obligate carrier	African American
4	Sweden	♂ 54 years	Ascending	None	1	1(1)	6/6	Father carried the mutation	Swedish
5	Sweden	♀ 51 years	Descending	None	0	0(2)	2/5	Unknown	Swedish
6	Canada	♀ 74 years	Ascending	Bethesda	1	1(2)	5/5	Sister carries the mutation	English
7	USA	♂ 57 years	Caecum	None	0	0(3)	8/10	Unknown	pat—Irish/English; mat— n/a
8	USA	♂ 58 years	Caecum	None	0	0(2)	9/10	Unknown	Swedish
9	USA	♀ 51 years	Caecum	None	0	0(5)	8/10	Unknown	pat—Swe/Ger; mat—Eng
10	Canada	♂ 29 years	Rectum	Bethesda	0	0(1)	5/6	Unknown	English/Canadian
11	Australia	♀ 67 years	Stomach	Amsterdam II	1	2(8)	3/4	Brother carries the mutation	Australian
12	Australia	♀ 48 years	Caecum	Bethesda	0	0(2)	8/9	Sister carries the mutation	Australian

^*Affected with any of the following types of cancer: colorectal, endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary tract, brain, small bowel, sebaceous adenoma and keratoacanthoma.

^†pat, paternal side; mat, maternal side; Ger, German; Swe, Swedish; Nor, Norwegian; Eng, English; Can, Canadian; n/a, data not available.

^‡Based on guidelines by Umar et al and Vasen et al.^16,17