Table 1. Pathogenic germline variants in PDAC patients.

A: 1203 PDAC patients underwent expanded germline testing through the Detect Hereditary Pancreatic Cancer initiative and 20.4% were found to have PGVs. Ordering practitioners added a pancreatitis panel to 445 of the 1203 cases and CFTR pathogenic variants were prevalent and most common 53/445. The alterations are listed by prevalence (%). All variants listed are confirmed pathogenic. B: Pathogenic germline variants within CFTR found in patients with pancreatic adenocarcinoma

Gene	n (%)	Gene	n (%)
A
CFTR	53 (11.9%)	TP53	3 (0.2%)
BRCA2	29 (2.4%)	PRSS1	1 (0.2%)
ATM	28 (2.3%)	BLM	2 (0.2%)
SPINK1	8 (1.8%)	BARD1	2 (0.2%)
MUTYH	21 (1.8%)	HOXB13	2 (0.2%)
CHEK2	20 (1.7%)	RAD50	2 (0.2%)
CTRC	5 (1.1%)	MSH2	2 (0.2%)
NTHL1	9 (0.8%)	NF1	2 (0.2%)
BRIP1	9 (0.8%)	PMS2	2 (0.2%)
APC	9 (0.7%)	VHL	2 (0.2%)
BRCA1	7 (0.6%)	CDKN1C	1 (0.1%)
MSH6	7 (0.6%)	EGFR	1 (0.1%)
PALB2	7 (0.6%)	MITF	1 (0.1%)
NBN	6 (0.5%)	RET	1 (0.1%)
WRN	5 (0.4%)	MSH3	1 (0.1%)
CDKN2A (p16INK4a)	5 (0.4%)	SDHB	1 (0.1%)
FANCC	4 (0.4%)	RAD51C	1 (0.1%)
FH	4 (0.3%)	CDKN2A (p14ARF)	1 (0.1%)
SDHA	4 (0.3%)	MEN1	1 (0.1%)
RECQL4	3 (0.3%)	MLH1	1 (0.1%)
CFTR Alteration Subtype	Other nomenclature	N (53)	Minor Allele Frequency (MAF)a
B
c.1210–34 TG[11]T[5]	5T; TG11	24	0.033 (3.3% ie >1%)
c.1210–34 TG[12]T[5]	5T; TG12	8	<0.01 (<1%)
c.1210–34 TG[13]T[5]	5T; TG13	1	<0.01 (<1%)
NM_000492.3:c.1327G > T	p.Asp443Tyr	1	<0.01 (<1%)
NM_000492.3:c.1521_1523del	p.Phe508del; aka ΔF508	12	0.01 (1%)
NM_000492.3:c.1624G > T	p.Gly542	2	<0.01 (<1%)
NM_000492.3:c.2657+5G > A	Intronic	1	<0.01 (<1%)
NM_000492.3:c.3454G > C	p.Asp1152His	2	<0.01 (<1%)
NM_000492.3:c.3846G > A	p.Trp1282	1	<0.01 (<1%)
NM_000492.3:c.3909C > G	p.Asn1303Lys	1	<0.01 (<1%)

^aHighest sub-population minor allele frequency as reported by gnomAD and 1000’s genome project.