Table 1.

Number of rare variants (Total, LOF, Deleterious Missense or inframe deletion) in CDKN2A+ and CDKN2A− pancreatic cancer patients categorized by gene set

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