Table 4.

Uptake of Genetic Testing and Pathogenic Variants Detected Among 98 Randomized Participants^±

	Randomized Study Participants N (%)
Completed genetic testing	90 (92)
Did not complete genetic testing	8 (8)
Overall uptake of testing
In first-degree relative of PV carrier (N=81)	77 (95)
In second-degree relative of PV carrier (N=36)	32 (89)
In both (N=20)*	19 (95)
Overall prevalence of PDAC-associated pathogenic variants**
In first-degree relative of PV carrier (N=77)	39 (51)
In second-degree relative of PV carrier (N=32)	10 (31)
In both (N=19)*	8 (42)
Pathogenic variants detected (N=90)
APC	0
ATM	11 (12)
BRCA1	3 (3)
BRCA2	15 (17)
CDKN2A	4 (4)
EPCAM	0
MLH1	2 (2)
MSH2	2 (2)
MSH6	0
PALB2	2 (2)
PMS2	2 (2)
STK11	0
TP53	0
Other ***	4 (4)

^±Uptake of genetic testing as of 9/11/20

^*Participant has an FDR and SDR with PDAC-associated pathogenic variant

^**Percent in those who received results; includes pathogenic variants in APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

^***Includes pathogenic variants in CHEK2 (2) and MITF (2). 1 participant carried pathogenic variants in BRCA1/CHEK2, 1 carried BRCA2/MITF, 1 carried ATM/CHEK2, 1 carried MITF; double pathogenic variants are counted in the “other” category as well as the PDAC-predisposing pathogenic variants listed above. Pathogenic variants in CHEK2 and MITF are not believed to be associated with PDAC susceptibility.