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Figure 1 | Breast Cancer Research

Figure 1

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

Figure 1

Single-strand conformation polymorphism (SSCP) assay for germline mutation in BRCA1 exon 2. Lanes 1 and 4 show normal patterns, and lane 2 and 3 depict the abnormal patterns of single-strand DNA mobility seen on a polyacrylamide gel (b). Frameshift mutation in sample (lane 2) confirmed by direct sequencing (a) that shows a 2 bp (AG) deletion in BRCA1 exon 2 at nucleotides 185–186 that leads to the formation of TGA at codon 39. (c) A frameshift mutation (lane 3) identified by direct sequencing, which revealed a 1 bp (T) insertion in BRCA1 exon 2 between nucleotides 181 and 182, leading to the formation of TGA at codon 40. These frameshift mutations are likely to disrupt the function of the BRCA1 proteins.

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