Table 3.
Characteristics of pancreatic ductal adenocarcinoma (PDAC) patients with germline pathogenic variants (PV), categorized by genes associated and not associated with PDAC and by family status. Note: Pt 6373 has two PV.
| Pt | Sex | Age PC | Race/ethnicity | Personal history of other cancer (age) | Family status | # PDAC in family* | Family history of other cancers in first degree relative (n if more than 1) | Pathogenic variant | |
|---|---|---|---|---|---|---|---|---|---|
| Genes Associated with PDAC | |||||||||
|
| |||||||||
| 75 | M | 79 | Non-Hispanic white | Prostate (69) | FPC | 2 | Breast | ATM c.1978del (p.Met660Trpfs*4) | |
| 3124 | F | 50 | Non-Hispanic white | None | FPC | 2 | None | ATM c.741dup (p.Arg248Serfs*6) | |
| 3489 | F | 59 | Non-Hispanic white | None | FPC | 3 | Breast, esophageal | ATM c.7630-2A>C | |
| 6828 | M | 52 | Non-Hispanic white | None | FPC | 2 | Colorectal, head/neck | ATM c.1564_1565del (p.Glu522Ilefs*43) | |
| 7832 | M | 61 | Non-Hispanic white | None | FPC | 2 | None | ATM c.8264dup (p.Tyr2755*) | |
| 8089 | M | 58 | Non-Hispanic white | None | FPC | 2 | Brain, lung, myeloma | ATM c.3245_3247delinsTGAT (p.His1082Leufs*14) | |
| 485 | M | 60 | Non-Hispanic white | Bladder (51) | Non-FPC | 2 | Breast, prostate, sarcoma | ATM c.3802del (p.Val1268*) | |
| 4155 | M | 59 | Non-Hispanic white | None | Non-FPC | 2 | None | ATM c.5932G>T (p.Glu1978*) | |
| 6133 | M | 77 | Non-Hispanic white | Prostate (63) | FPC | 2 | Gynecologic (non-ovarian) | BRCA1 c.4382_4388dup (p.Tyr1463*) 4507ins7 | |
| 6373 | M | 60 | Non-Hispanic white, Ashkenazi Jewish | None | FPC | 2 | Breast |
BRCA1 c.68_69del (p.Glu23Valfs*17) 187delAG; BRCA2 c.5946del (p.Ser1982Argfs*22) 6174delT |
|
| 746 | F | 56 | Non-Hispanic white | None | FPC | 2 | Breast, sarcoma | BRCA2 c.961C>T (p.Gln321*) Q321X (1189C>T) | |
| 3268 | M | 93 | Non-Hispanic white, Ashkenazi Jewish | None | FPC | 3 | Breast (3), lung, prostate | BRCA2 c.5946del (p.Ser1982Argfs*22) 6174delT | |
| 4983 | F | 49 | Non-Hispanic white | None | FPC | 3 | Breast (2), leukemia | BRCA2 c.3744_3747del (p.Ser1248Argfs*10) 3972del4 | |
| 6245 | F | 73 | Non-Hispanic black | None | FPC | 2 | Head/neck | BRCA2 c.3407_3408insAlu | |
| 6533 | M | 49 | Non-Hispanic white | None | FPC | 2 | Lung, ovarian | BRCA2 c.9867del (p.Phe3289Leufs*24) 10095delT | |
| 6588 | M | 81 | Non-Hispanic white, Ashkenazi Jewish | Prostate (71) | FPC | 2 | None | BRCA2 c.5946del (p.Ser1982Argfs*22) 6174delT | |
| 8607 | F | 51 | Non-Hispanic white | None | FPC | 3 | Gynecologic (non-ovarian), prostate | BRCA2 c.6373dupA (p.Thr2125Asnfs*4) 6601insA | |
| 1 | F | 42 | Non-Hispanic white | None | Non-FPC | 2 | Prostate | BRCA2 c.5722_5723del (p.Leu1908Argfs*2) 5950delCT | |
| 1116 | M | 59 | Non-Hispanic white | None | Non-FPC | 2 | Gynecologic (non-ovarian) | BRCA2 c.4965C>G (p.Tyr1655*) Y1655X (5193C>G) | |
| 1279 | F | 64 | Non-Hispanic white | Breast (47) | Non-FPC | 2 | Brain, breast (2), sarcoma | BRCA2 c.1813dupA (p.Ile605Asnfs*11) 2041insA | |
| 883 | M | 64 | Non-Hispanic white | None | FPC | 2 | Bladder | CDKN2A/p16 c.286del (p.Val96Cysfs*50) 286delG | |
| 1359 | M | 56 | Non-Hispanic white | None | FPC | 5 | Gynecologic (non-ovarian) (3) | CDKN2A/p16 c.457G>T (p.Asp153Tyr) D153Y (457G>T) | |
| 3986 | F | 61 | Non-Hispanic white | None | FPC | 2 | None | CDKN2A/p16 c.-34G>T 5′UTR-34G>T | |
| 6888 | M | 76 | Non-Hispanic white | Melanoma (39) | FPC | 2 | Colorectal, lung | CDKN2A/p16 c.301G>T (p.Gly101Trp) G101W (301G>T) | |
| 703 | F | 54 | Non-Hispanic white | None | FPC | 3 | Colorectal, leukemia, prostate | MSH2 c.1046C>T (p.Pro349Leu) P349L (1046C>T) | |
| 6547 | F | 45 | Non-Hispanic white | None | FPC | 2 | Breast, prostate | PALB2 del exon 13 | |
| 571 | F | 85 | Non-Hispanic white | None | FPC | 2 | Colorectal | PMS2 c.2175-1G>A IVS12-1G>A | |
|
| |||||||||
| Genes Not Associated with PDAC | |||||||||
|
| |||||||||
| 4819 | M | 67 | Non-Hispanic white | None | FPC | 5 | None | BARD1 c.632T>A (p.Leu211*) | |
| 5994 | M | 55 | Non-Hispanic white | None | FPC | 2 | Breast, ovarian | CHEK2 c.1100del (p.Thr367Metfs*15) | |
| 590 | M | 72 | Non-Hispanic white | None | Non-FPC | 2 | None | CHEK2 c.1100del (p.Thr367Metfs*15) | |
| 6213 | F | 68 | Non-Hispanic white | None | Non-FPC | 3 | Ovarian, prostate | CHEK2 c.1100del (p.Thr367Metfs*15) | |
| 8142 | F | 59 | Non-Hispanic white | None | Non-FPC | 3 | Bladder, breast, prostate | CHEK2 c.1100del (p.Thr367Metfs*15) | |
| 4910 | M | 86 | Non-Hispanic white | Prostate (68) | Non-FPC | 2 | Breast, prostate | MUTYH/MYH c.1145G>A (p.Gly382Asp) G382D (1145G>A) | |
| 5297 | M | 51 | Non-Hispanic white | None | Non-FPC | 2 | None | MUTYH/MYH c.494A>G (p.Tyr165Cys) Y165C (494A>G) | |
| 5700 | F | 63 | Non-Hispanic white | Breast (58) | Non-FPC | 2 | Head/neck, stomach | MUTYH/MYH c.1145G>A (p.Gly382Asp) G382D (1145G>A) | |
| 3312 | F | 63 | Non-Hispanic white | None | FPC | 2 | None | NBN c.657_661del (p.Lys219Asnfs*16) | |
*
# PDAC in family includes tested individual and is not limited to first degree relative