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Table 1 Pedigree information and clinical diagnosis of the investigated patients

From: HNPCC: Six new pathogenic mutations

Patient ID

Clinical diagnosis

Manifestation patient (age of diagnosis)

Manifestation family members (age of diagnosis)

0546-2

AMS II

CRC (32)

Mother: adenocarcinoma in the small pelvis (39)

brother of mother: CRC (35)

sister of mother: endometrial carcinoma (35)

sister of mother. endometrial carcinoma (53), CRC (54)

grandfather: CRC (42)

sister of grandfather: CRC (66)

sister of grandfather: CRC (48)

brother of grandfather: gastric cancer (34)

0699-3

B2, 3 and 4/Br1, 2, and 4

CRC (40; 53)

Mother: breast cancer (45)

grandmother: CRC (70)

cousin of mother: endometrial carcinoma (45)

cousin of mother: CRC (40); endometrial carcinoma (48)

daughter of cousin: CRC (33)

0545-0

B2,3 and 4/Br1, 2 and 4

CRC (29)

Father: CRC (52; 55; 58)

0729-5

AMS I

CRC (44; 46; 54)

Father: CRC (55)

Grandfather CRC (unknown age)

0660-6

AMS I

CRC (42)

mother: CRC (30 and 57)

grandmother: endometrial carcinoma (47), lung cancer (48)

sister of grandmother: CRC (51)

sister of grandmother: endometrial carcinoma (50)

brother of grandmother: CRC (53 and 65)

0531-X

B7/Br1

colon adenoma (39; 41)

Sister: colon adenoma (41)

Grandmother: CRC (40)

  1. AMS I Amsterdam criteria; AMS II Amsterdam criteria revised; B Bethesda criteria, Br revised Bethesda criteria; CRC colorectal cancer