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Table 2 Germline mutations in the BRCA2 gene

From: Novel mutations in the BRCA1 and BRCA2genes in Iranian women with early-onset breast cancer

Exon Mutation and nucleotide change Stop codon at amino acid Coding effect Screening method Family history Age at diagnosis (years)
11* 6261–6262 insGT 2040 (TAA) Frameshift PTT 2 BC <40 27
11 3979–3980 insA 1264 (TAA) Frameshift PTT Negative 40
11 5972 C>T T1915M - Missense DS Negative 41
17 IVS16-14T>C IVS16-6T>G - Close to splice site SSCP/HA n.a. n.a.
18 8345A>G N2706S - Missense SSCP/HA Negative 38
23 9266C>T T3013I - Missense SSCP/HA Negative 31
  1. *This patient has also BRCA1-IVS20+48 dup GTATTCCACTCC. This common polymorphism was detected in both Iranian and British populations. BC, breast cancer (early-onset ages are also shown); DS, direct sequencing; HA, heteroduplex analysis; n.a., not applicable; PTT, protein truncation test; SSCP, single-strand conformation polymorphism assay.