Table 1.
Proband characteristics and tumour histological features from the Australian Colon Cancer Family Registry (ACCFR)
| Number (%) | |||
|---|---|---|---|
|
All
(823 CRC, 813 probands) |
MMR-Proficient
(729 CRC, 723 probands) |
MMR-Deficient
(94 CRC, 90 probands) |
|
| Gender | |||
| Female | 395 (49) | 352 (49) | 43 (48) |
| Male | 418 (51) | 371 (51) | 47 (52) |
| Age at diagnosis† (years) | |||
| Median (range) | 47 (18-59) | 47 (18-59) | 43 (18-59) |
| Mean ± Standard deviation | 46.3 ± 8.0 | 46.7 ± 7.7 | 43.1 ± 9.1 |
| 18 – 30 | 25 (3) | 18 (2.5) | 7 (7.4) |
| 31 – 40 | 153 (18.6) | 129 (17.7) | 24 (25.5) |
| 41 – 50 | 374 (45.4) | 332 (45.5) | 42 (44.7) |
| 51- 60 | 268 (32.6) | 249 (34.2) | 19 (20.2) |
| 61- 70 | 3 (0.4) | 1 (0.1) a | 2 (2.1) b |
| 71-80 | 0 | 0 | 0 |
| >80 | 0 | 0 | 0 |
| Family History | |||
| Amsterdam I | 38 (5) | 26 (4) | 12 (13) |
| Amsterdam II | 11 (1) | 5 (1) | 6 (7) |
| Amsterdam I or II | 49 (6) | 31 (4) | 18 (20) |
| Revised Bethesda | 602 (74) | 514 (71) | 90 (100) |
| Tumour location | |||
| Proximal colon | 214 (28) | 155 (23) | 59 (66) |
| Distal colon | 231 (30) | 216 (32) | 15 (17) |
| Rectum | 317 (42) | 302 (45) | 15 (17) |
| Missing | 61 | 56 | 5 |
| Histological type | |||
| Adenocarcinoma | 724 (91) | 658 (93) | 66 (74) |
| Mucinous carcinoma | 70 (9) | 47 (7) | 23 (26) |
| Signet ring cell carcinoma | 4 | 4 | 0 |
| Missing | 25 | 20 | 5 |
| Histological grade (adenocarcinoma) | |||
| Low grade | 591 (82) | 543 (83) | 48 (73) |
| High grade | 126 (18) | 108 (17) | 18 (27) |
| Missing | 7 | 7 | 0 |
| Stage (TNM) | |||
| Stage I | 134 (18) | 118 (17) | 16 (19) |
| Stage II | 259 (34) | 208 (31) | 51 (61) |
| Stage III | 323 (42) | 307 (45) | 16 (19) |
| Stage IV | 48 (6) | 47 (7) | 1 (1) |
| Missing | 59 | 49 | 10 |
| Tumour margin | |||
| Expanding | 447 (63) | 376 (60) | 71 (89) |
| Infiltrating | 261 (37) | 252 (40) | 9 (11) |
| Missing | 115 | 101 | 14 |
| Peritumoural lymphocytes | |||
| Present | 320 (43) | 266 (41) | 54 (67) |
| Absent | 412 (57) | 385 (59) | 27 (33) |
| Missing | 91 | 78 | 13 |
| Crohn's-like reaction | |||
| Present | 145 (20) | 101 (16) | 44 (55) |
| Absent | 578 (80) | 542 (84) | 36 (45) |
| Missing | 100 | 86 | 14 |
| Tumour-infiltrating lymphocytes | |||
| Present | 166 (22) | 100 (15) | 66 (76) |
| Absent | 605 (78) | 584 (85) | 21 (24) |
| Missing | 52 | 45 | 7 |
| BRAFV600E mutation | |||
| Positive | 57 (7) | 44 (6) | 13 (15) |
| Negative | 735 (93) | 659 (94) | 76 (85) |
| Missing | 31 | 26 | 5 |
†
Age at diagnosis of first CRC for metachronous CRC
a
proband had MMR-proficient CRC diagnosed at 53 years and metachronous MMR-proficient CRC diagnosed at 61 years.
b
proband had MMR-proficient CRC diagnosed at 58 years and two metachronous MMR-deficient CRCs diagnosed at 62 years.