Skip to main content

Table 1 Germline mutations in the BRCA1 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)
2 185-186delAG 39 (TGA) Frameshift SSCP/HA 2 BC, 1 PS 37
2 181-182insT 40 (TGA) Frameshift SSCP/HA 1 OV 41
11 2335-2336delAA 741 (TAA) Frameshift PTT 2 BC <40 42
20* 12 bp dup GTATTCCACTCC IVS20+48 - Polymorphism SSCP/HA 2 BC <42 27
  1. *This patient also has a frameshift mutation in exon 11 of BRCA2. BC, breast cancer (early-onset ages are also shown); HA, heteroduplex analysis; OV, ovarian cancer; PS, prostate cancer; PTT, protein truncation test; SSCP, single-strand conformation polymorphism assay.