UPN | Gene | Mutation | Predicted effect | Pedigree | Previous description |
5869 | BRCA1 |
| Truncating mutation (NMD), clinically important (BIC) | HBOCS | One entry in BIC |
5824 | BRCA1 |
| Truncating mutation (NMD), clinically important (BIC) | HBOCS | Multiple entries in BIC |
5298 | BRCA2 |
| Benign (PP2); tolerant (SIFT); polymorphism, protein features (might be) affected, splice site changes (MT) | Inconspicuous, identified by systematic screening | None |
6387 | BARD1 |
| Reduced capability of growth suppression and apoptosis | HBOCS | Sauer et al27 |
4353 | Unknown | ||||
5650 | TP53 |
| Pathogenic; mutation involves splice site, protein structure unknown | Inconspicuous, but patient fulfils LFL criteria | None |
6371 | TP53 |
| Truncating mutation (NMD), predicted disease causing (MT) | Multiple diverse neoplasms | None |
6144 | TP53 |
| Prolonged p53 (+27 AA), predicted disease causing (MT) | Inconspicuous | Somatic mutation in a gastric cancer cell line (COSMIC) and EBV transformed lymphoblasts28 |
7047 | TP53 |
| Deleterious (TMD) | Inconspicuous, identified by comprehensive screening | Multiple entries in TMD and COSMIC |
dbSNP build 131; NM_007294.3 (BRCA2); NG_017013.1, NM_000546.4 (TP53).
BIC, breast cancer information core database; EBV, Epstein-Barr virus; HBOCS, hereditary breast and ovarian cancer syndrome; LFL, Li-Fraumeni like syndrome; MT, MutationTaster; NMD, nonsense mediated mRNA decay; PP2, PolyPhen-2; SIFT, Sorting Tolerant From Intolerant algorithm; TMD, IARC TP53 Mutation Database; UPN, unique patient number.