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. 2019 Apr 9;7(6):e677. doi: 10.1002/mgg3.677

Table 2.

Distribution of BRCA2 * mutations in 216 patients with high‐risk breast cancer

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).