Skip to main content
. 2022 Feb 16;5(2):e2148721. doi: 10.1001/jamanetworkopen.2021.48721

Table 2. Cancer-Associated Germline Sequence Variations in Patients With PDAC in the Nanjing Cohort.

Case ID Chromosome position Sex Age, y Gene Amino acid change Nucleotide change Function ClinVara Personal history of other disease Family history of cancer
P1720 chr11:108106561 Female 71 ATM p.Glu166Gln c.496G>C Missense Pathogenic Negative Negative
P0251 chr11:108153468 Female 65 ATM p.Tyr1203Ter c.3609delT Nonsense Pathogenic Negative Negative
P1659 chr11:108170440 Male 51 ATM Splice c.5006-1G>A Noncoding Likely pathogenic Negative Negative
P2296 chr11:108178646 Male 64 ATM p.Cys1899Ter c.5697C>A Nonsense Pathogenic Negative Negative
P2281 chr11:108186639 Female 60 ATM Splice c.6095 + 1G>A Noncoding Likely pathogenic Negative Negative
P0537 chr17:41197809 Female 66 BRCA1 p.Ile1845fs c.5533_5540delATTGGGCA Frameshift Pathogenic Breast cancer, lymphoma Negative
P2289 chr17:41219625 Male 66 BRCA1 p.Asp1713Asn c.5137G>A Missense Likely pathogenic Negative Negative
P1565 chr17:41245390 Male 47 BRCA1 p.Glu720fs c.2157_2158insA Frameshift Pathogenic Negative Negative
P0907 chr13:32900280 Male 70 BRCA2 p.Lys157fs c.470_474delAGTCA Frameshift Pathogenic Negative Negative
P1473 chr13:32906915 Male 55 BRCA2 p.Lys437fs c.1310_1313delAAGA Frameshift Pathogenic Negative Negative
P2349 chr13:32907029 Male 51 BRCA2 p.Gln472Ter c.1414C>T Nonsense Pathogenic Negative Negative
P0418 chr13:32907371 Female 74 BRCA2 p.Lys586Ter c.1756A>T Nonsense Pathogenic Lung cancer Negative
P1449 chr13:32911228 Male 61 BRCA2 p.Thr915fs c.2743_2747delACTTG Frameshift Pathogenic Negative Negative
P0796 chr13:32912337 Male 40 BRCA2 p.Val1283fs c.3847_3848delGT Frameshift Pathogenic Negative Negative
P1579 chr13:32914102 Female 63 BRCA2 p.Lys1872fs c.5616_5620delAGTAA Frameshift Pathogenic Ovarian cancer Negative
P0703 chr13:32921033 Male 61 BRCA2 p.Arg2336His c.7007G>A Missense Pathogenic Negative Negative
P2247 chr13:32944538 Male 64 BRCA2 Splice c.8332-1G>T Noncoding Likely pathogenic Negative Negative
P2372 chr16:23614914 Male 48 PALB2 p.Leu1143fs c.3426_3427insA Frameshift Pathogenic Negative Negative
P0375 chr16:23619181 Female 67 PALB2 Splice c.3350 + 4A>G Noncoding Pathogenic Negative Negative
P1670 chr16:23635403 Male 66 PALB2 p.Gln921fs c.2760_2761insA Frameshift Pathogenic Negative Negative
P1649 chr16:23641218 Male 77 PALB2 p.Arg753Ter c.2257C>T Nonsense Pathogenic Negative Negative
P0757 chr16:23641306 Female 69 PALB2 p.Met723fs c.2167_2168delAT Frameshift Pathogenic Negative Negative
P0732 chr16:23646660 Male 56 PALB2 p.Leu403fs c.1206delT Frameshift Pathogenic Negative Negative
P0214 chr17:7577545 Male 42 TP53 p.Met246Val c.736A>G Missense Likely pathogenic Negative Negative
P0493 chr17:33428225 Male 68 RAD51D p.Arg320Ter c.958C>T Nonsense Likely pathogenic Negative Father with pancreatic cancer
P0774 chr17:33430317 Female 80 RAD51D p.Arg252Ter c.754C>T Nonsense Pathogenic Colon polyps Negative
P1831 chr17:33434458 Male 68 RAD51D p.Lys111fs c.331_332insTA Frameshift Pathogenic Negative Negative
P0417 chr17:59857633 Female 75 BRIP1 p.Asn643fs c.1923delT Frameshift Pathogenic Negative Negative
P0437 chr17:59858254 Male 59 BRIP1 p.Arg581Ter c.1741C>T Nonsense Pathogenic Negative Negative
P0581 chr17:59858254 Female 69 BRIP1 p.Arg581Ter c.1741C>T Nonsense Pathogenic Negative Negative
P2568 chr17:59878688 Female 60 BRIP1 p.Arg356Ter c.1066C>T Nonsense Pathogenic Negative Negative
P0519 chr16:89833603 Male 57 FANCA p.Ser849fs c.2546delC Frameshift Pathogenic Negative Negative
P1545 chr16:89866028 Male 49 FANCA p.Gln271Ter c.811C>T Nonsense Pathogenic Negative Negative
P0763 chr9:98002929 Male 77 FANCC Splice c.345 + 2GT>T Noncoding Likely pathogenic Esophageal cancer Negative
P0437 chr9:98002937 Male 59 FANCC p.Trp113Ter c.339G>A Nonsense Likely pathogenic Negative Negative
P1410 chr7:152346380 Male 68 XRCC2 p.Arg64Ter c.190C>T Missense Pathogenic Negative Negative
P0201 chr5:147207583 Male 51 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P0212 chr5:147207583 Male 57 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P0322 chr5:147207583 Male 68 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P0328 chr5:147207583 Male 73 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P0357 chr5:147207583 Male 54 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Chronic pancreatitis Negative
P0572 chr5:147207583 Male 75 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P0727 chr5:147207583 Male 77 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P0754 chr5:147207583 Male 56 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P0907 chr5:147207583 Male 70 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P1048 chr5:147207583 Male 65 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P1435 chr5:147207583 Female 41 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P1439 chr5:147207583 Male 54 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P1501 chr5:147207583 Male 65 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Father with gastric cancer
P1513 chr5:147207583 Female 57 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P1536 chr5:147207583 Female 77 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P1555 chr5:147207583 Male 72 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P1610 chr5:147207583 Male 59 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P1732 chr5:147207583 Male 61 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P2209 chr5:147207583 Male 69 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P2519 chr5:147207583 Male 78 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Negative Negative
P2556 chr5:147207583 Male 64 SPINK1 Splice c.194 + 2T>C Noncoding Pathogenic Chronic pancreatitis Father with lung cancer
P1689 chr7:117149143 Female 70 CFTR p.Arg74Trp c.220C>T Missense Likely pathogenic Negative Negative
P2293 chr7:117149143 Male 49 CFTR p.Arg74Trp c.220C>T Missense Likely pathogenic Negative Negative
P1714 chr7:117232086 Male 55 CFTR p.Gly622Asp c.1865G>A Missense Pathogenic Negative Negative
P1674 chr7:117246728 Male 73 CFTR p.Gly970Asp c.2909G>A Missense Likely pathogenic Negative Negative
P1677 chr7:117246728 Male 77 CFTR p.Gly970Asp c.2909G>A Missense Likely pathogenic Negative Negative
P2370 chr7:117246728 Male 74 CFTR p.Gly970Asp c.2909G>A Missense Likely pathogenic Lymphosarcoma Negative
P0533 chr7:117251704 Male 73 CFTR p.Arg1070Gln c.3209G>A Missense Pathogenic Negative Negative
P1681 chr7:117254665 Male 66 CFTR Splice c.3368-2A>G Noncoding Pathogenic Negative Negative

Abbreviation: PDAC, pancreatic ductal adenocarcinomas.

a

Pathogenic classification according to the ClinVar database.15