Table 1 Features of families carrying a germline mutation in either of the MMR genes.
Patient ID | Clinical manifestations (age of onset) | Family history | Criteria used for selection |
|---|---|---|---|
F33 | Endometrial Ca (40) | mother hysterectomy at 40y-CRC at 70y, 1st brother CRC at 50y, 2nd brother CRC at 32y | AMS II |
F39 | CRC (50) | father stomach Ca at 64y, sister ovarian Ca at 56y, one 2nd degree relative (P) brain Ca at 47y, one 2nd degree relative (P) pancreatic Ca at 58y, 2 2nd degree relatives (P) CRC at 52y & 80y respectively | AMS II |
F41 | Endometrial Ca (~45)- CRC (77) | 1 daughter endometrial Ca at 45y- CRC at 58y,1 grandson died from CRC at 29y, 1 granddaughter < 5 polyps at 33y, two brothers CRC > 50y, 1 sister endometrial Ca at 26y, 1 niece endometrial Ca at 40y | AMS II |
F74 | CRC (42)- endometrial Ca (64) | mother endometrial Ca- CRC, brother CRC at 26y, grandmother (M) CRC, uncle (M) CRC at 37y- CRC at 54y, cousin (M) CRC at 40y | AMS II |
F84 | Endometrial Ca (40) | mother died from pulmonary embolism, grandmother (M) stomach Ca at 60y, 2 2nd degree relatives CRC, 1 2nd degree relative CRC-metachronous endometrial Ca | AMS II |
F263 | CRC (42)- metachronous CRC (47) | mother endometrial Ca at 50y, grandfather (M) stomach Ca, 4 2nd degree relatives CRC, 1 2nd degree relative endometrial Ca at 34y | AMS II |
F111 | CRC (42) | father renal Ca-prostate Ca, grandfather (P) CRC, uncle (P) CRC | Revised Bethesda |
F150 | CRC (40) | father CRC at 48y, uncle (P) CRC at 50y | AMS I |
F656 | CRC (59) | father CRC at 41y, 1st sister CRC at 41y, 2 nd sister CRC at 65y, grandmother (P) gynecological Ca at ?y | AMS II |
F1278 | CRC (33) | father CRC at 56y, grandmother (P) gynecological Ca at ?y- CRC at ~43y | AMS II |
F68 | CRC (28)- metachronous CRC (44) | father prostate Ca, brother 4 polyps at 36y, 1 2nd degree relative CRC at 45y-metachronous CRC at 80y, 1 2 nd degree relative duodenum adenoCa at 42y | Revised Bethesda |
F1376 | Ca cecum (30) | mother CRC at 50y-polyp in the female reproductive tract at ~45y, grandfather (M) CRC at ~80y, 5 2nd degree relatives CRC < 60y, 1 2nd degree relative endometrial Ca at ~50y-metachronous CRC at 65y | AMSII |
1SRB (Serbian origin) | CRC (49) | father CRC at 60y, 2 brothers CRC at 49 & 59y respectively, 1 sister endometrial Ca at 48y-metachronous CRC at 57y, 1 sister pancreatic Ca at 63y, 1 niece CRC-synchronous stomach Ca at 25y, 2 2nd degree relatives (P) CRC at 50 & 60y respectively, 1 2nd degree relative (P) bladder Ca at 60y | AMSII |