Table 2.
Clinical characteristics and frequency of P/LP variants among tested individuals.
| Diagnosis | Total Cases | Cases with P/LP Variants (%) | Gene with P/LP Variants | Number of Variants (%) |
|---|---|---|---|---|
| Breast cancer | 800 | 267 (33.4) | ATM | 10 (3.7) |
| ATR | 2 (0.7) | |||
| BARD1 | 6 (2.2) | |||
| BLM | 3 (1.1) | |||
| BRCA1 | 111 (41.6) | |||
| BRCA2 | 49 (18.4) | |||
| BRIP1 | 1 (0.4) | |||
| CHEK2 | 19 (7.1) | |||
| CTNNA1 | 2 (0.7) | |||
| FANCA | 1 (0.4) | |||
| FANCC | 3 (1.1) | |||
| FANCD2 | 1 (0.4) | |||
| FANCI | 11 (4.1) | |||
| HOXB13 | 2 (0.7) | |||
| MLH1 | 1 (0.4) | |||
| MLH3 | 1 (0.4) | |||
| MSH6 | 3 (1.1) | |||
| MUTYH | 4 (1.5) | |||
| NBN | 2 (0.7) | |||
| NF1 | 1 (0.4) | |||
| NTHL1 | 2 (0.7) | |||
| PALB2 | 9 (3.4) | |||
| PMS1 | 2 (0.7) | |||
| POLE | 2 (0.7) | |||
| POLG | 10 (3.7) | |||
| RAD50 | 1 (0.4) | |||
| RAD51C | 2 (0.7) | |||
| SLX4 | 1 (0.4) | |||
| TP53 | 2 (0.7) | |||
| XRCC2 | 3 (1.1) | |||
| Gastric cancer | 13 | 2 (15.4) | CHEK2 | 1 (50.0) |
| XRCC2 | 1 (50.0) | |||
| Colon cancer | 27 | 6 (22.2) | BMPR1A | 1 (16.7) |
| MLH1 | 3 (50.0) | |||
| MSH2 | 2 (33.3) | |||
| Ovarian cancer | 209 | 85 (40.6) | ATM | 2 (2.4) |
| BABAM1 | 1 (1.2) | |||
| BLM | 1 (1.2) | |||
| BRCA1 | 45 (52.9) | |||
| BRCA2 | 19 (22.4) | |||
| BRIP1 | 1 (1.2) | |||
| CDH1 | 1 (1.2) | |||
| CHEK2 | 6 (7.1) | |||
| MSH6 | 1 (1.2) | |||
| MUTYH | 2 (2.4) | |||
| POLG | 2 (2.4) | |||
| RAD51C | 3 (3.5) | |||
| XRCC2 | 1 (1.2) | |||
| Pancreatic cancer | 10 | 4 (40.0) | ATM | 1 (25.0) |
| BLM | 2 (50.0) | |||
| MLH1 | 1 (25.0) | |||
| Healthy individuals (see Table 1) | 57 | 8 (14.0) | BLM | 2 (25.0) |
| BRCA1 | 1 (12.5) | |||
| CHEK2 | 1 (12.5) | |||
| MLH3 | 1 (12.5) | |||
| PMS1 | 1 (12.5) | |||
| POLD1 | 1 (12.5) | |||
| STK11 | 1 (12.5) | |||
| Multiple primary cancers | 8 | 6 (75.0) | BRCA2 | 1 (16.7) |
| CDH1 | 1 (16.7) | |||
| CHEK2 | 1 (16.7) | |||
| FANCG | 1 (16.7) | |||
| MSH2 | 1 (16.7) | |||
| TP53 | 1 (16.7) |
P—pathogenic; LP—likely pathogenic.