TABLE 4.

‘Pathogenic’ Germline Variants (Bin 1)

Gene	cDNA Nucleotide Change	rsID	Population	Reference
ATM	c.5932G>T	rs587779852	US, Europe	153,154
ATM	c.8266A>T	rs371638537	US	58
BRCA1	c.5263_5264insC	rs80357906	(Ashkenazi Jewish) US, Canada, Poland, Israel	65,82,83,155–159
BRCA1	c.68_69delAG*	rs386833395	(Ashkenazi Jewish) US	69,160
BRCA1	c.66_67delAG*	rs796856605	(Ashkenazi Jewish) US, Israel, Canada	82,83,155,158,159,161,162
BRCA2	c.5946delT	rs80359550	(Ashkenazi Jewish) US, Israel, Canada	69,81–83,156,158,159,161–166
BRCA2	c.6591_6592delTG	rs80359605	Germany, UK	80,167,168
BRCA2	c.9227G>A	rs80359187	Germany, UK	80,168
BRCA2	c.10095delCinsGAATTATATCT	rs276174803	Germany, UK	80,168
CDKN2A	c.457G>T	rs45476696	US	60,69,169,170
CDKN2A	c.377T>A	rs104894098	US	60,68,69,169,171
CDKN2A	c.301G>T	rs104894094	US, Italy	60,68,69,111,169
CDKN2A	c.225_243del19	rs730881674	Netherlands, US	68,69,169,172–174
CDKN2A	c.148C>T	rs864622636	Germany, US	69,175
CDKN2A	c.−34G>T	rs1800586	US	68,69,169,170
CHEK2	c.1100delC	rs555607708	Germany, Poland, US	153,157,176
PALB2	c.509_510delGA†	rs515726124	Czech Republic, Poland, US	60,89,157
PALB2	c.508_509delAG†	-	Europe	88
PALB2	c.172_175delTTGT	rs180177143	Poland, US	65,157,177
SPINK1	c.194+2T>C‡	rs148954387	(Japanese) Japan, Germany	26,178

All germline variants are reported in patients with pancreatic cancer in multiple studies, and all variants except one SPINK1 variant are reported in familial pancreatic cancer cases.

^*,†Each symbol represents a group of variants that result in same cDNA and protein change.

^‡Absent in familial pancreatic cancer study.

cDNA indicates complementary DNA; US, United States; UK, United Kingdom.