Table 4. Mutation subtype by demographic, clinical, histopathologic and family history variables.
| Pathogenic ( n =9) | Predicted pathogenic ( n =61) | Predicted non-pathogenic ( n =91) | No mutation detected ( n =1730) | P -value | |
|---|---|---|---|---|---|
| Mean age (s.d.) | 47.1 (6.0) | 53.2 (15.2) | 57.1 (11.9) | 56.1 (12.1) | 0.032 |
| Age ⩽50, n (%) | 7 (77.8) | 26 (42.6) | 31 (34.1) | 563 (32.5) | 0.012 |
| Age >50, n (%) | 2 (22.2) | 35 (57.4) | 60 (65.9) | 1167 (67.5) | |
| Race, n (%) | |||||
| Caucasian | 8 (88.9) | 56 (93.4) | 75 (82.4) | 1610 (93.1) | |
| Black | 1 (11.1) | 1 (1.6) | 3 (3.3) | 32 (1.8) | 0.056 |
| Asian | 0 (0) | 3 (5.0) | 13 (14.3) | 78 (4.5) | |
| Other | 0 (0) | 0 (0) | 0 (0) | 10 (0.6) | |
| Time from diagnosis to interview, days (median) | 784 | 576 | 671 | 610.5 | 0.271 |
| Histology | |||||
| Borderline, n (%) | 0 (0) | 11 (18.0) | 6 (6.6) | 237 (13.7) | 0.083 |
| Invasive, n (%) | 9 (100) | 50 (82.0) | 85 (93.4) | 1493 (86.3) | |
| Serous, n (%) | 2 (22.2) | 17 (34.0) | 45 (52.9) | 868 (58.1) | 0.001 |
| Non-serous, n (%) | 7 (77.8) | 33 (66.0) | 40 (57.1) | 625 (41.9) | |
| Clear cell | 2 (28.6) | 6 (18.2) | 8 (20.0) | 100 (16) | |
| Endometrioid | 5 (71.4) | 16 (48.5) | 20 (50.0) | 272 (43.5) | 0.801 |
| Mucinous | 0 (0) | 5 (15.2) | 5 (12.5) | 117 (18.7) | |
| Othera | 0 (0) | 6 (18.2) | 7 (17.5) | 136 (21.8) | |
| Family history b | |||||
| Relatives with colorectal cancer, n (%) | 4 (44.4) | 8 (13.3) | 16 (17.4) | 335 (19.4) | 0.143 |
| Relatives with endometrial cancer, n (%) | 0 (0) | 1 (1.7) | 4 (4.3) | 54 (3.1) | 0.731 |
| Relatives with any HNPCC cancerc, n (%) | 4 (44.4) | 18 (30) | 31 (33.7) | 584 (33.8) | 0.832 |
| Number of mutations | |||||
| Toronto, n (proportion) | 7 (0.5) | 41 (2.7) | 76 (5.0) | 1396 (91.8) | |
| Tampa, n (proportion) | 1 (0.8) | 6 (4.8) | 5 (4.0) | 114 (90.5) | 0.244 |
| Duke, n (proportion) | 1 (0.4) | 14 (5.7) | 10 (4.1) | 220 (89.8) | |
Abbreviations: HNPCC=hereditary non-polyposis colorectal cancer.
a
Other includes the following histologies: carcinoma, unspecified (108), mixed cell (34), ovarian surface epithelial tumour (1), primary peritoneal (1) and transitional cell carcinoma (5).
b
Family history used the following relatives: mother, father, sisters, brothers, daughters, sons, grandmother, grandfather, aunt, uncle, nieces, nephews, halfsiblings.
c
The HNPCC cancer sites included colorectum, endometrium, other gastrointestinal tract, urinary tract, ovary and brain.