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. 2019 Jan 10;11:599–609. doi: 10.2147/CMAR.S185352

Table 4.

Table of identified variants classified as likely pathogenic/pathogenic according to the ClinVar database

Patient Gene Nucleotide Protein ClinVar classification Sex/age primary Personal history (age at diagnosis) Family history
With SMN
OL0138 CHEK2 c.349A>G p.Arg117Gly Class 4–5 Female/70 Breast (71) 0
Without SMN
OL0130 RAD51D c.345+2T>G Class 4 Male/62 0 Mother – gastric
OL0132 MLH1 c.390C>G p.Tyr130Ter Class 5 Female/52 0 Father – colon, father’s mother – brain
ATM c.3849delA p.Leu1283fs Class 5
PCI77 CHEK2 c.1100delC p.Thr367fs Class 5 Male/55 0 0

Note: All variants are heterozygous.

Abbreviation: SMN, subsequent malignant neoplasm after pancreatic ductal adenocarcinoma (PDAC).