Table 1.
Characteristics of 28 affected individuals in 22 families with hereditary diffuse gastric cancer without CDH1 pathogenic variants
|
Number of samples sequenced* |
Age of proband at diagnosis (years) | Cancers diagnosed in relatives of probands† | Candidate gene identified in proband | ||
|---|---|---|---|---|---|
| Affected | Unaffected | ||||
| 1 | 2 | 0 | 41 | Diffuse gastric cancer (44)‡, gastric cancer (57) | None |
| 2 | 2 | 4 | 27 | Peritoneal cancer, ovarian cancer (22), diffuse gastric cancer (24)‡, diffuse gastric cancer (28) | None |
| 3 | 1 | 0 | 40 | Gastric cancer (28), diffuse gastric cancer (48) | None |
| 4 | 1 | 2 | 55 | Breast cancer, lung cancer, laryngeal cancer, gastric cancer, and diffuse gastric cancer (44, 52) | PALB2 |
| 5 | 1 | 0 | 36§ | Diffuse gastric cancer (37), lung cancer (54), colorectal cancer (57), breast cancer (50), diffuse gastric cancer (61), diffuse gastric cancer (79), lung cancer (83) | None |
| 6 | 1 | 0 | 37 | Breast cancer, gastric cancer (63), gastric cancer (64) | RECQL5 |
| 7 | 2 | 0 | 36 | Colorectal cancer, breast cancer (43), diffuse gastric cancer (55)‡ | None |
| 8 | 1 | 0 | 47¶ | Diffuse gastric cancer (44) | MSH2‖ |
| 9 | 1 | 0 | 44 | Diffuse gastric cancer (28) | None |
| 10 | 1 | 2 | 28 | Breast cancer, gastric cancer (44), gastric cancer (47) | None |
| 11 | 4 | 1 | 28 | Signet-ring cells‡, Signet-ring cells‡, breast cancer (40s), diffuse gastric cancer (45)‡, prostate cancer (60s), colorectal cancer (75) | ATR, NBN |
| 12 | 1 | 0 | 68 | Lung cancer, gastric cancer (49), gastric cancer (50), gastric cancer (76) | MSH2‖ |
| 13 | 1 | 0 | 47 | Gastric cancer, gastric cancer (50s), gastric cancer (60s) | None |
| 14 | 1 | 0 | 23 | Diffuse gastric cancer (40s), diffuse gastric cancer (46), thyroid cancer (30) | None |
| 15 | 1 | 0 | 53 | Gastric cancer (49), gastric cancer (67), gastric cancer (71) | None |
| 16 | 1 | 0 | 37 | Gastric cancer, breast cancer (54), breast cancer (65), colorectal cancer (66) | None |
| 17 | 1 | 0 | 45 | Diffuse gastric cancer (42) | None |
| 18 | 1 | 0 | 48 | Gastric cancer (44), gastric cancer (54) | None |
| 19 | 1 | 1 | 35 | Lung cancer, uterine cancer (65) | None |
| 20 | 1 | 0 | 55 | Gastric cancer (51), colorectal cancer (76) | None |
| 21 | 1 | 1 | 28 | Gastric cancer (53), breast cancer (76), gastric cancer (80) | RECQL5 |
| 22 | 1 | 0 | 30 | Gastric cancer, diffuse gastric cancer (67) | None |
In total, 39 individuals were sequenced, including 11 unaffected relatives. Numbers in parentheses indicate age in years at diagnosis.
*
All probands were sequenced in this study.
†
Includes both first-degree and second-degree relatives; age in years at diagnosis is in parentheses when known.
‡
Sequenced in this study.
§
This proband was also diganosed with colorectal cancer at age 47 years.
¶
This proband was also diagnosed with lobular breast cancer at age 36 years.
‖
No microsatellite instability was detected in tumour.