Definition of high-risk individuals eligible for pancreatic cancer surveillance.
| Gene mutation | PDAC family history criteria | Agreement | Grade |
|
LKB1/STK11
(Peutz-Jeghers syndrome) | Regardless of family history | 99% | 1 |
| CDKN2A p16* (FAMMM) | With at least one affected FDR | 99% | 1 |
| CDKN2A p16* (FAMMM) | Regardless of family history | 77% | 1 |
| BRCA2 | If at least one affected FDR, or at least two affected relatives† of any degree | 93% | 2 |
| PALB2 | If at least one affected FDR | 83% | 2 |
| MLH1/MSH2/MSH6 (Lynch) | If at least one affected FDR | 84% | 2 |
| ATM | If at least one affected FDR | 88% | 2 |
| BRCA1 | If at least one affected FDR | 69.6%‡ | 3 |
| Regardless of gene mutation status | If at least three affected relatives† on the same side of the family, of whom at least one is an FDR to the individual considered for surveillance | 97% | 2 |
| Regardless of gene mutation status | If at least two affected relatives† who are FDR to each other, of whom at least one is an FDR to the individual considered for surveillance | 93% | 2 |
| Regardless of gene mutation status | If at least two affected relatives† on the same side of the family, of whom at least one is an FDR to the individual considered for surveillance | 88% | 2 |
*Only encompassing CDKN2A mutations leading to changes in the p16 protein.
†Wherever relative is stated, this indicates blood relatives only.
‡An additional 20.3% somewhat agreed with surveillance (total 89.9%).
ATM, ataxia telangiectasia mutated; BRCA2, breast cancer 2; CDKN2A, cyclin-dependent kinase inhibitor 2A; FAMMM, familial atypical multiple mole melanoma; FDR, first-degree relative; GRADE, Grading of Recommendations, Assessment, Development, and Evaluations; HBOC, hereditary breast and ovarian cancer; LKB1/STK11, liver kinase B1/serine/threonine kinase 11; Lynch syndrome, MLH1, mutL homolog 1; MSH2, mutS homolog 2; MSH6, mutS homolog 6; PALB2, partner and localizer of BRCA2; PDAC, pancreatic ductal adenocarcinoma.