Table 1.
Summary of International Classification of Diseases, 9th Revision (ICD9), gender, age at diagnosis, clinical criteria and tumor molecular characteristics of the familial CRC families
| Patient_ID | Gender | ICD9 diagnosis (age) | AMS criteria | Revised Bethesda | Tumor molecular characteristics |
|---|---|---|---|---|---|
| 3222 | F | CC (54), Hyperplastic polyp (55/61/62/63/65), BC (70) | 0 | Y | MMR IHC proficient |
| 3308 | F | CC (43), BC (51/52) | 0 | Y | MMR IHC proficient |
| 3387 | F | BC (40), OC (70), CC (80) | 0 | Y | MMR IHC proficient |
| 3426 | M | MM (39) | I & II | Y | na |
| 4932 | F | CC (34), EC (40), Hyperplastic polyp (43), BT (46) | I & II | Y | na |
| 5324 | F | M (52), CC (59), SMC (na), BC (72) | 0 | Y | na |
| 6174 | F | Hyperplastic polyp (63/67), BC (65) | I & II | Y | MMR IHC proficient |
| 6977 | F | TC (66) | 0 | Y | MMR IHC proficient |
| 9876 | F | M (45), BC (54) | 0 | Y | na |
| 9998 | F | Hyperplastic polyp (45), CC (45) | II | Y | MMR IHC proficient |
| 10,675 | F | BC (51), Hyperplastic polyp (59), TC (60) | II | Y | na |
| 12,954 | F | Hyperplastic polyp (69), ML (70) | II | Y | na |
| 13,072 | M | Hyperplastic polyp (63/64/65), CC (65/67) | 0 | Y | na |
| 14,930 | F | Hyperplastic polyp (86), CC (86) | 0 | Y | MMR IHC proficient |
| 18,843 | F | BC (44), CC (49), SMC (na) | 0 | Y | na |
| 19,411 | M | PC (70) | 0 | Y | MSH6 IHC deficient |
| 19,673 | F | BC (40/42) | II | Y | na |
| 20,612 | F | Hyperplastic polyp (59/65), EC (70) | 0 | Y | na |
| 21,368 | F | OC (62) | 0 | Y | na |
| 22,295 | F | Hyperplastic polyp (53), M (58) | 0 | Y | na |
| 23,761 | F | Hyperplastic polyp (40/42/44), BC (50) | 0 | Y | na |
| 23,910 | F | M (43), Hyperplastic polyp (49), BC (63), BT (63) | 0 | Y | na |
| 24,140 | F | CC (45/67), BC (56) | 0 | Y | na |
| 24,447 | F | BC (57/66), CC (66) | 0 | Y | MLH1/PMS2 IHC deficient and MSI |
| 11,705 | F | THC (53), KC (53/63) | II | Y | MMR IHC proficient |
| 12,673 | F | OC (23), SMC (36), RC (62) | II | Y | na |
| 13,393 | M | RC (48), CST (58) | I & II | Y | MMR IHC proficient and MSS |
| 14,963 | F | Hyperplastic polyp (69), BC (62) | 0 | Y | na |
| 19609a | F | CC (42), M (44), BC (57) | 0 | Y | MMR IHC proficient |
| 22,953 | F | BC (53) | II | Y | na |
| 24,789 | F | CC (43), RC (65), BC (72) | I & II | Y | MMR IHC proficient and MSS |
| 25,167 | M | CC (55) | I & II | Y | MMR IHC proficient |
| 5597 | M | Hyperplastic polyp (53/54), SC (55), KC (62) | 0 | Y | MMR IHC proficient |
| 8913 | F | Hyperplastic polyp (59), BC (61), TC (69) | 0 | Y | na |
CRC colorectal, ICD9 diagnosis International Classification of Diseases, 9th Revision, CC colon cancer, BC breast cancer, AMS Amsterdam criteria, 0 not fulfill the AMS criteria, Y yes, MMR mismatch repair, IHC immunohistochemistry, MSI microsatellite instabily, MSS microsatellite stable, na not available, OC ovary cancer, MM multiple myeloma, EC endometrial cancer, BT brain tumor, M melanoma, SMC other malignant of the skin, TC trachea, bronchus, lung cancer, ML malignant neoplasms of lymphoid, PC prostate cancer, THC thyroid cancer, KC kidney cancer, RC rectum cancer, CST malignant neoplasm of connective and soft tissue, SC stomach cancer
a Patient carrying CHEK2 c.470 T > C, p.I157T