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Table 2 List of pathogenic and likely pathogenic variants identified

From: Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer

Gene Transcript cDNA change Protein change Variant Type Consequence IARC Sex Age at diagnosis Personal history (age) Familial history (cases)
BRCA1
NM_007294
c.5468-1G > A p.(?) SNV Splicing C5 F 69 breast
(42, 55)
pancreas (1), breast (1), uterus (1)
BRCA2
NM_000059
c.6039del p.(Val2014TyrfsTer26) del Frameshift C5 M 63 none breast (1), stomach (1), lung (1), brain (1)
BRCA2
NM_000059
c.8364G > A c.8364G > A SNV Missense C5 M 72 none NA
BRCA2
NM_000059
c.1532_133insT (p.Pro512ThrfsTer2) ins Frameshift C5 M 61 none lung (1), prostate (1)
ATM
NM_000051
c.3275C > A p.(Ser1092*) SNV Nonsense C5 M 44 NA NA
ATM
NM_000051
c.4236 + 2 T > A p.(?) SNV Splicing C4 F 56 none none
PALB2
NM_024675
c.2167_2168del p.(Met723Valfs*21) del Frameshift C5 F 44 none breast (1), colon (1), head and neck (1)
RAD50
NM_005732
c.1636-1G > A p.? SNV Splicing C4 M 53 none none
  1. M Male, F Female, IARC International Agency for Research on Cancer classification (C5: pathogenic; C4: likely pathogenic), SNV Single Nucleotide Variation, NA Not available