[HTML][HTML] Analysing the mutational status of adenomatous polyposis coli (APC) gene in breast cancer
Background Breast cancer is a heterogeneous disorder for which the underlying genetic
basis remains unclear. We developed a method for identifying adenomatous polyposis coli
(APC) mutations and we evaluated the possible association between APC 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 …
basis remains unclear. We developed a method for identifying adenomatous polyposis coli
(APC) mutations and we evaluated the possible association between APC 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 …
Background
Breast cancer is a heterogeneous disorder for which the underlying genetic basis remains unclear. We developed a method for identifying adenomatous polyposis coli (APC) mutations and we evaluated the possible association between APC 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 these APC SNPs.
Conclusions
APC mutations occur at a low frequency in Taiwanese breast cancer cases. HRM analysis is a powerful method for the detection of APC mutations in breast.
Springer