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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.