Table 1.

Mutations in BRCA pathway genes in pancreatic ductal adenocarcinoma.

Gene	Status	Coding DNA	Protein	dbSNP	Frequency in ExAC	Prediction*	Allele frequency		Case
							Tumor	Normal
BRCA1	germline	c.4883T > C	p.M1628T	rs4986854	0.0015	B; T; B	0.45	0.50	Case 42
BRCA2	germline	c.53G > A	p.R18H	rs80358762	0.00004	B; T; D	0.61	0.49	Case 29
BRCA2	germline	c.551T > C	p.L184P	rs80358775	—	C; D; D	0.41	0.45	Case 7
BRCA2	germline	c.623T > G	p.V208G	rs80358865	0.00006	U; D; D	0.50	0.45	Case 32
BRCA2	germline	c.964A > C	p.K322Q	rs11571640	0.00006	C; D; D	0.55	0.56	Case 11
BRCA2	germline	c.1744A > C	p.T582P	rs80358457	0.0002	C; D; D	0.46	0.49	Case 6
BRCA2	germline	c.2350A > G	p.M784V	rs11571653	0.0003	B; T; B	0.59	N.A.**	Case 19
BRCA2	germline	c.2396A > G	p.K799R	—	—	N; T; B	0.50	0.50	Case 28
BRCA2	germline	c.6131 G > T	p.G2044V	rs56191579	0.00004	C; T; B	0.72	0.53	Case 2
BRCA2	germline	c.6444_6445del	p.S2148fs	rs80359592	—	P; N; N	0.45	0.50	Case 24
BRCA2	germline	c.8891G > C	p.R2964T	—	—	N; D; D	0.48	0.47	Case 35
BRCA2	germline	c.9875C > T	p.P3292L	rs56121817	0.00007	C; D; PD	0.38	0.51	Case 11
PALB2	germline	c.2228A > G	p.Y743C	rs141749524	0.0001	C; T; B	0.50	0.50	Case 3

*Predictions are noted in the order of ClinVar, SIFT and PolyPhen-2, and abbreviations are B, benign; C, conflicting interpretations of pathogenicity; D, damaging; N, no information; P, pathogenic; PD, possibly damaging; T, tolerant; and U, uncertain significance.

**N.A., not available because existence of this variation was confirmed by Sanger sequencing.