Table 1.
Characteristics of the individuals evaluated at the high-risk gastrointestinal cancer clinic.
| Characteristic | Gastric Cancer (45) | Pancreatic Cancer (32) | All (77) |
|---|---|---|---|
| Age at cancer diagnosis1; median (IQR) | 47 (40–55) | 51.5 (45.5–59) | 49 (41.5–58) |
| Gender (women); number (%) | 29 (64.4) | 17 (53.1) | 46 (59.7) |
| Race | |||
| Caucasian, number (%) | 43 (95.6) | 33 (100) | 75 (97.4) |
| Asian, number (%) | 2 (4.4) | 0 | 2 (2-6) |
| Referral criteria, number (%) | |||
| -Age ≤60 years old | 29 (64.4) | 22 (68.5) | 51 (66.2) |
| -Multiplicity (PH GC/PC and any other tumor) | 1 (2.3) | 2 (6.5) | 3 (3.9) |
| -Family history | 15 (33.3) | 8 (25) | 23 (29.9) |
| PH of any other neoplasm, number (%) | 6 (13) | 3 (8.8) | 9 (11.7) |
| Age; median (IQR) | 49 (41.5–58) | 53 (35–53) | 53 (39.5–58) |
| Neoplasm type, number (%) | |||
| Breast | 3 (50) | 2 (66%) | 5 (55.5) |
| Endometrium | 2 (33.4) | - | 2 (22.2) |
| Colon | 1 (16.6) | - | 1 (11.1) |
| Lymphoma | - | 1 (34%) | 1 (11.1) |
| Family history of the same tumor 2 | |||
| (FDR or SDR), number (%) | 20 (44.4) | 10 (31.2) | 30 (38.9) |
| Number of affected relatives; median (IQR) | 2 (1.2–3) | 2 (1–2.7) | ---- |
| Family history of the same tumor in FDR, number (%) | 18 (40) | 8 (25) | 26 (33.7) |
| Younger age at diagnosis; median (IQR) | 55 (44.5–67.5) | 62.5 (52.5–69.7) | ----- |
| Family history of other neoplasms (FDR or SDR) | 29 (64.4) | 24 (75) | 53 (68.8%) |
| Number of affected relatives; median (IQR) | 1.5 (1–3) | 2 (1–3) | 2 (1–3) |
| Total registered tumors | 65 | 56 | 121 |
| Most frequent tumors, number (%) | |||
| Breast | 14 (21.5) | 4 (7.1) | 18 (14.8) |
| Colon | 7 (10.7) | 5 (8.9) | 13 (10.7) |
| Lung | 2 (3.1) | 3 (5.3) | 5 (4.1) |
| Prostate | 3 (4.6) | 3 (5.3) | 6 (4.9) |
| Endometrium | 1 (1.5) | 3 (5.3) | 4 (3.3) |
| Pancreas | 5 (7.7) | - | 5 (4.1) |
| Leukemia | 1 (1.5) | 3 (5.3) | 4 (3.3) |
| IHC-MMR tumor, number (%) | 29 (64.4) | 9 (28.1) | 38 (49.3) |
| Altered IHC-MMR, number (%) | 1 (3.4) | 0 | 1 (2.6) |
| Germline genetic study, number (%) | 16 (35.6) | 6 (18.8) | 22 (28.6) |
| Gene-guided study (Sanger) | 8 (50) | 1 (16.7) | 9 (40.1) |
| Multi-gen panel | 8 (50) | 5 (83.3) | 13 (59.1) |
| Germline genetic mutations identified, number (%) | 7 (43.7) | 3 (18.8) | 10 (30.3) |
| Familial cancer criteria, number (%) | 19 (24.7) | ||
| Criteria of FGC | 17 (37.8) | - | |
| ≥3 FDR or SDR with GC | 5 (29.4) | - | |
| ≥2 FDR or SDR with GC, 1 < 50 | 7 (70.6) | - | |
| Criteria of FPC | - | 7 (21.8) | |
| ≥3 FDR/SDR/TDR with PC | - | 2 (28.5) | |
| ≥2 FDR with PC | - | 5 (71.5) | |
| Final classification after genetic counseling, number (%) | 7 (26.7) | 3 (9.4) | 10 (13) |
| (a) Hereditary-cancer associated syndrome | |||
| (b) Familial form of cancer | 12 (15.5) | 7 (21.9) | 19 (24.6) |
| (c) Sporadic cancer | 26 (57.8) | 22 (68.7) | 48 (62.4) |
IQR, interquartile range; PH, personal history; GC, gastric cancer; PC, pancreatic cancer; FDR, first-degree relative; SDR, second-degree relative; IHC-MMR, Immunohistochemical analysis of DNA repair proteins, FGC, familial gastric cancer; FPC, familial pancreatic cancer. 1 Age of the youngest GC/PC case in the family. 2 Family history of GC in case of PH of GC; and family history of PC in case of PH of PC.