Table 2.
Frequency of germline pathogenic variants found in the study population.
| Gene | No. of Patients | % | 95% CI |
|---|---|---|---|
| Negative for GPV | 240 | 74.8 | |
| Positive for GPV | 81 | 25.2 | |
| Total of GPV | 83 | ||
| High risk breast cancer genes | 39 | 47.0 | |
| BRCA1 | 17 | 20.5 | 12.4 – 30.8 |
| BRCA2 | 14 | 16.9 | 9.5 – 26.7 |
| TP53 | 4 | 4.8 | 1.3 – 11.9 |
| PALB2 | 4 | 4.8 | 1.3 – 11.9 |
| Moderate risk breast cancer genes | 15 | 18.0 | |
| ATM | 8 | 9.6 | 4.3 – 18.1 |
| CHEK2 | 6 | 7.2 | 2.7 – 15.1 |
| RAD51C | 1 | 1.2 | 0.0 – 6.5 |
| Low risk breast cancer genes | 29 | 35.0 | |
| MUTYH (monoallelic) | 7 | 8.4 | 3.5 – 16.6 |
| SBDS | 3 | 3.6 | 0.8 – 10.2 |
| FANCI | 2 | 2.4 | 0.3 – 8.4 |
| HNF1A | 2 | 2.4 | 0.3 – 8.4 |
| PFR1 | 2 | 2.4 | 0.3 – 8.4 |
| RECQL4 | 2 | 2.4 | 0.3 – 8.4 |
| BLM | 1 | 1.2 | 0.0 – 6.5 |
| BRIP1 | 1 | 1.2 | 0.0 – 6.5 |
| FANCA | 1 | 1.2 | 0.0 – 6.5 |
| FANCD2 | 1 | 1.2 | 0.0 – 6.5 |
| FANCE | 1 | 1.2 | 0.0 – 6.5 |
| FANCL | 1 | 1.2 | 0.0 – 6.5 |
| FANCM | 1 | 1.2 | 0.0 – 6.5 |
| FH | 1 | 1.2 | 0.0 – 6.5 |
| PHOX2B | 1 | 1.2 | 0.0 – 6.5 |
| PMS2 | 1 | 1.2 | 0.0 – 6.5 |
| SLX4 | 1 | 1.2 | 0.0 – 6.5 |
GPV, germline pathogenic variants.
Genes included in the multigene panel: AIP, ALK, APC, ATM, BAP1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GPC3, HNF1A, HRAS, KIT, MAX, MEN1, MET, MLH1,, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PHOX2B, PMS1, PMS2, PRF1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC.