Table 2.
Patient ID | Nucleotide change | Exon | Amino acid change | Mutation type | Pathogenicity | BIC | ClinVar | Age at diagnosis (years) | Cancer family history | Triple‐negative breast cancer |
---|---|---|---|---|---|---|---|---|---|---|
033A | c.304A>T | 3 | p.Lys102Ter | Nonsense | Pathogenic | No | No | 28 | Father pancreatic cancer | No |
192A | c.464_468delGAGAT | 5 | p.Arg155Lysfs*26 | Missense | Unknown | No | Yes | 45 | No | No |
073A | c.5959C>T | 11 | p.Gln1987Ter | Nonsense | Pathogenic | Yes | Yes | 47 | Father pancreatic cancer; older sister breast cancer | No |
212A | c.5959C>T | 11 | p.Gln1987Ter | Nonsense | Pathogenic | Yes | Yes | 36 | No | No |
064A | c.7552_7553insT | 15 | p.Pro2519Alafs*20 | Missense | Pathogenic | No | No | 33 | No | No |
140A | c.8364G>A | — | p.Trp2788Ter | Nonsense | Pathogenic | No | Yes | 42 | No | Yes |
141A | c.9548_9549insA | — | p.Leu3184Thrfs*5 | Missense | Pathogenic | No | No | 41 | Father bladder cancer | No |
BIC: breast cancer information core.
BRCA2 (NM_000059.3).