Table 2.
Germline pathogenic variants (PV) prevalence by type of familial patient (patients meeting Familial Pancreatic Cancer [FPC] criteria vs familial Non-FPC), categorized by genes associated and not associated with PDAC. Genes with no PV included APC, BMPR1A, BRIP1, CDH1, CDK4, EPCAM, MLH1, MSH6, PTEN, RAD51C, RAD51D, SMAD4, STK11, and TP53.
| Total (n=302) | FPC (n=185) | Non-FPC (n=117) | p-value** | ||||
|---|---|---|---|---|---|---|---|
| N | % | N | % | N | % | ||
| All Genes | 36 | 11.9 | 25* | 13.5 | 11 | 9.4 | 0.29 |
|
| |||||||
| Genes Associated with PDAC | |||||||
|
| |||||||
| ATM | 8 | 2.6 | 6 | 3.2 | 2 | 1.7 | |
| BRCA1 | 2 | 0.7 | 2 | 1.1 | 0 | 0 | |
| BRCA2 | 11 | 3.6 | 8 | 4.3 | 3 | 2.6 | |
| CDKN2A (p16) | 4 | 1.3 | 4 | 2.2 | 0 | 0 | |
| MSH2 | 1 | 0.3 | 1 | 0.5 | 0 | 0 | |
| PALB2 | 1 | 0.3 | 1 | 0.5 | 0 | 0 | |
| PMS2 | 1 | 0.3 | 1 | 0.5 | 0 | 0 | |
| Subtotal* | 27 | 8.9 | 22* | 11.9 | 5 | 4.3 | 0.02 |
|
| |||||||
| Genes Not Associated with PDAC | |||||||
|
| |||||||
| BARD1 | 1 | 0.3 | 1 | 0.5 | 0 | 0 | |
| CHEK2 | 4 | 1.3 | 1 | 0.5 | 3 | 2.6 | |
| MUTYH/MYH | 3 | 1.0 | 0 | 0 | 3 | 2.6 | |
| NBN | 1 | 0.3 | 1 | 0.5 | 0 | 0 | |
| Subtotal | 9 | 3.0 | 3 | 1.6 | 6 | 5.1 | 0.09 |
*
One FPC case carried two PV: one in BRCA1 and one in BRCA2.
**
P-value compares prevalence of mutations in FPC versus familial non-FPC probands.