Table 1.
Gene Set | Number of Rare Variants in CDKN2A+ PC Patients (n=14) | Number of Rare Variants in CDKN2A− PC Patients (n=21) | ||||
---|---|---|---|---|---|---|
Total Variants | Loss of Function Variants | Deleterious Missense Variants | Total Variants | Loss of Function Variants | Deleterious Missense or Inframe Deletion Variants | |
MMR | 7 | 0 | 3 | 5 | 0 | 3 |
AD Disorder | 4 | 0 | 1 | 5 | 1* | 1 |
AR/AD Disorder | 0 | 0 | 0 | 7 | 3 | 3 |
Hereditary/chronic pancreatitis | 3 | 0 | 3 | 4 | 0 | 1 |
Previously reported BRCA2 frameshift (Ghiorzo et al, 2012b)
LOF, loss of function; PC, pancreatic cancer; MMR, mismatch repair; AD, autosomal dominant; AR, autosomal recessive