Table 4. Pathogenic mutations in 21 genes associated with hereditary predisposition for pancreatic, breast and ovarian cancers in PDAC patients with a personal history of breast and/or ovarian cancer.
| Patient ID | Family history of PDAC | Gender | Gene | Sub region | Type of mutation | Nucleotide change | Amino acid change | 1000_GenomeMAF (JPN) | ExAC Browser (East Asian) | HGVBSnDB MAF | PROVEN | SIFT | Polyphen2 HDIV | Polyphen2HDIV_class | IARC class | ClinVar | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCCH-16 | Yes | Female | ATM | CDS6 | nonsense | c. 742 C>T | p. Arg248Ter | NA | 0.0001156 | NA | NA | NA | - | - | Pathogenic | |
| 2 | NCCH-27 | No | Female | BRCA2 | CDS12 | nonsense | c. 6952 C>T | p. Arg2318Ter | NA | NA | NA | NA | NA | - | - | 5 - Definitely pathogenic | Pathogenic |
| 3 | NCCH-31 | No | Female | BRCA2 | Intron 16 | splice | c. 7806-1 G>T | ? | NA | NA | NA | NA | NA | - | - | 5 - Definitely pathogenic | Pathogenic |
PDAC, pancreatic ductal adenocarcinoma