Table 2.

All germline pathogenic variants (PV) and variants of uncertain significance (VUS) identified in screening participants

Gene	HGVS Nomenclature	Molecular consequence	Number of participants	PHx Cancer	FHx PDAC
ATM	c.1444A > C	VUS	n = 1 Female	Dx 47 breast	1FDR;1SDR
BRCA1	c.14C > T a	VUS	n = 1 Femalea	–	2FDR; 1SDR
	c.2475delC	Pathogenic; Frameshift/Truncating mutation	n = 1 Femaleb	Dx 42/54 breast; Dx 48 fallopian tube	1FDR
BRCA2	c.250C > T	Pathogenic; Nonsense	n = 1 Female	Dx 49 breast	1FDR
	c.750_753del4	Pathogenic; Deletion	n = 1 Female	–	2SDR
	c.971G > Ca	VUS	n = 1 Femalea	–	2FDR; 1SDR
	c.2808_2811del	Pathogenic; Frameshift/Truncating mutation	n = 1 Male (at 50% risk)	–	2FDR (siblings)
	c.3847_3848delGT	Pathogenic; Frameshift/Truncating mutation	n = 1 Male	–	2FDR
	c.4405_4409del	Pathogenic; Frameshift/Truncating mutation	n = 1 Female	Dx 53 follicular thyroid; Dx 63 breast	1FDR; 1TDR
	c.4478_4481del	Pathogenic; Frameshift/Truncating mutation	n = 1 Female	Dx 37/49 breast	1FDR
	c.4544del	Pathogenic; Frameshift/Truncating mutation	n = 1 Male	Dx 42/43 melanoma	1FDR
	c.4587dupG	Pathogenic; Frameshift/Truncating mutation	n = 1 Male	–	5FDR
	c.5238dup	Pathogenic; Nonsense	Kindred 1
			n = 1 Female	Dx 57/58 breast	1FDR; 1SDR
			Kindred 2
			n = 1 Femalec	Dx 55 PDAC on study; Dx56 CRC	1FDR
			n = 1 Female	-	2FDR
			n = 1 Male	-	2FDR
	c.5303-5304delTT	Pathogenic; Frameshift/Truncating mutation	n = 1 Female	–	1FDR
	c.5681dupA	Pathogenic; Truncating mutation	Kindred 1
			n = 1 Femalec	Dx 48 PDAC on study; Dx49 gastric	1FDR; 1SDR
			n = 2 Males	-	2FDRc; 1SDR
			n = 1 Female	-	1FDR; 2SDRc
			n = 1 Female (at 50% risk)	-	2FDRc; 1SDR
	c.5682C > G	Pathogenic; Truncating mutation	n = 1 Male	Dx 58 liver	1FDR
	c.5946del (Jewish founder)	Pathogenic; Frameshift/Truncating mutation	Kindred 1
			n = 1 male	Dx 64 prostate	1FDR
			n = 1 female	-	1FDR
			n = 1 female	-	1SDR
			Kindred 2
			n = 1 female	Dx 45 DCIS	1SDR
			Kindred 3
			n = 1 Femaleb	Dx 42/54 breast; Dx 48 fallopian tube	1FDR
			Kindred 4
			n = 1 Female	-	1SDR; 3TDR
			n = 1 Female	Dx 65 ovarian	1SDR; 3TDR
			Kindred 5
			n = 1 Male	-	1FDR
			Kindred 6
			n = 1 female	-	1TDR
			n = 2 males	-	1SDR
			Kindred 7
			n = 1 male	Dx 55 brain; Dx 60 prostate	1FDR; 1SDR
			Kindred 8
			n = 1 Male	-	1FDR
			n = 1 Female	Dx 34 CRC	1FDR
	c.6405_6409delCTTAA	Pathogenic; Frameshift/Truncating mutation	n = 1 Male	–	1FDR
	c.7505G > A	VUS	n = 1 Female	Dx 32 breast	1FDR; 1SDR
	c.7757G > A	Pathogenic; Nonsense	n = 1 Male	–	1FDR
	c. 7806-2A > G	Pathogenic; Splice acceptor	n = 1 Male	–	1FDR
	c.7976 + 5G > C	Likely pathogenic; Splicing disruptor	n = 1 Female	–	1SDR
	c.7977-1G > C	Pathogenic; Splice acceptor	n = 1 Male	–	1SDR
	c.7988A > T	Pathogenic; Missense	n = 1 Female	Dx 49 breast	1FDR
	c.8167G > C	Pathogenic; Missense	n = 1 Female	Dx 39 breast	1FDR
	c.8575del	Pathogenic; Frameshift/Truncating mutation	Kindred 1
			n = 1 Male	Dx 75 RCC	1FDR
			n = 1 Female	Dx 62 breast	1FDR
			n = 1 Male	-	1SDR
			Kindred 2
			n = 1 Female	-	1FDR
	c.9154C > T	Pathogenic; Missense	n = 1 Female	–	1FDR; 1SDR
	c.9294C > G	Pathogenic; Truncating mutation	Kindred 1
			n = 1 Male	-	1FDR
			n = 1 Female	Dx 46 breast	1FDR
	c.9371A > T	Pathogenic; Missense	n = 1 Female	Dx 44 breast	1SDR
	c.9924C > G	Pathogenic; Truncating mutation	Kindred 1
			n = 1 Female	Dx 43 breast	2TDR
n = 1 Female			Dx 33/40 breast	1SDR; 1TDR
Exon 14–16 deletion	Pathogenic; Deletion	n = 1 Male	–	1FDR
CDKN2A	c.47 T > G p.(Leu16Arg)	Pathogenic; Missense	n = 1 Female	Dx 45 melanoma	1FDR; 1SDR
	c.95 T > C	Pathogenic; Missense	Kindred 1
			n = 1 Female	-	3FDR
			Kindred 2
			N = 1 Male n = 1	Dx 30 melanoma	2SDR
			Female	Dx 21 melanoma	2SDR
			n = 1 Female	-	1FDR; 1SDR
MLH1	c.1758delC	Pathogenic; Truncating mutation	n = 1 Male	Dx 37 BCC; Dx 40 CRC	1FDR
PALB2	c.487_488del	Pathogenic; Frameshift/Truncating mutation	Kindred 1
			n = 1 Female	Dx 49 breast	1FDR; 2SDR
			n = 1 Female (at 50% risk)	-	1FDR; 2SDR
			n = 1 Male	-	1FDR; 2SDR
	c.2257C > T	Pathogenic; Nonsense	Kindred 1
			n = 1 Female	-	1FDR; 1SDR
			Kindred 2
			n = 1 Female	-	1FDR
	c.3113G > A	Pathogenic; Nonsense	n = 1 Male	Dx 40 melanoma	1FDR
			n = 1 Female	Dx 52 BCC
	c.3209 T > C	VUS	n = 1 Female	Dx 55 breast	2FDR
	c.3362delG	Pathogenic; Frameshift	Kindred 1
			n = 1 Male	-	1SDR
			n = 1 Female	Dx 28 melanoma; Dx 42 breast; Dx 55 SCC/BCC	1FDR
	c.3426_3429del	Pathogenic; Frameshift	n = 1 Female	–	1FDR; 1SDR
PRSS1	c.86A > C	Pathogenic; Missense	n = 1 Male	Dx chronic pancreatitis	Nil PDAC; 1FDR chronic pancreatitis
	c.86A > T	Pathogenic; Missense	n = 1 Female	Dx chronic pancreatitis	1FDR; 2SDR
STK11	c.179dup	Pathogenic, Nonsense	n = 1 Male	–	De novo PV
	Exon 2–9 deletion	Pathogenic; Deletion	n = 1 Female	–	De novo PV

FDR first-degree relative; SDR second-degree relative; TDR third-degree relative; CRC colorectal cancer; DCIS ductal carcinoma in situ; BCC basal cell carcinoma; SCC squamous cell carcinoma; RCC renal cell carcinoma. ^a same participant; both VUS identified in affected FDR; ^b same participant; ^c diagnosed PDAC on study