title: Analysing the mutational status of adenomatous polyposis coli (APC) gene in breast cancer.
abstract: 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.
authors.affiliation: Epigenome Research Center, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404 Taiwan ; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Ya-Sian
authors.initials: YS
authors.lastname: Chang
authors.affiliation: Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Chien-Yu
authors.initials: CY
authors.lastname: Lin
authors.affiliation: Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Shu-Fen
authors.initials: SF
authors.lastname: Yang
authors.affiliation: Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Cheng-Mao
authors.initials: CM
authors.lastname: Ho
authors.affiliation: Epigenome Research Center, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404 Taiwan ; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan ; School of Medicine, China Medical University, Taichung, Taiwan.
authors.forename: Jan-Gowth
authors.initials: JG
authors.lastname: Chang
keywords: APC; Breast cancer; Direct DNA sequencing; HRM