Analysing the mutational status of adenomatous polyposis coli (APC) gene in breast cancer. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Chang, Ya-Sian; Lin, Chien-Yu; Yang, Shu-Fen; Ho, Cheng-Mao; Chang, Jan-Gowth
• Is Part Of: Cancer cell international. Volume 16:Issue 1(2016)
• Page Start: 1
• Page End: 6
• Publication Date: 2016-12
• Subjects: HRM -- APC -- Breast cancer -- Direct DNA sequencing; Cytology -- Periodicals; 616.994
• DOI: 10.1186/s12935-016-0297-2
• Languages: English
• ISSNs: 1475-2867

Abstract

Abstract Background Breast cancer is a heterogeneous disorder for which the underlying genetic basis remains unclear. We developed a method for identifyingadenomatous polyposis coli (APC ) mutations and we evaluated the possible association betweenAPC genetic variants and breast cancer susceptibility. Methods Genomic DNA was extracted from tumor and matched peripheral blood samples collected from 89 breast cancer patients and from peripheral blood samples collected from 50 controls. All samples were tested for mutations in exons 1–14 and the mutation cluster region of exon 15 by HRM analysis. All mutations were confirmed by direct DNA sequencing. Results We identified a new single nucleotide polymorphism (SNP), c.465A>G (K155K), in exon 4 and seven known SNPs: c.573T>C (Y191Y) in exon 5, c.1005A>G (L335L) in exon 9, c.1458T>C (Y486Y) and c.1488A>T (T496T) in exon 11, c.1635G>A (A545A) in exon 13, and c.4479G>A (T1493T) and c.5465T>A (V1822D) in exon 15. The following alterations were found in 2, 1, 2, and 1 patients, respectively: c.465A>G, c.573T>C, c.1005A>G, and c.1488A>T. There was no observed association between breast cancer risk and any of theseAPC SNPs. Conclusions APC mutations occur at a low frequency in Taiwanese breast cancer cases. HRM analysis is a powerful method for the detection ofAPC mutations in breast.