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Background  Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized primarily by the development of numerous adenomatous polyps in the colon and a high risk for colorectal cancer. FAP is caused by germline mutations of the adenomatous polyposis coli ( APC ) gene. The proband in this family was a 39-year-old female patient with the pathologic diagnosis of adenomatous polyps, and then a five-generation kindred with FAP was characterized in the following years. This article identified an  APC  mutation, and demonstrated the practical use of  APC -linked STR markers, which could be used to reduce misdiagnosis of prenatal diagnosis or preimplantation genetic diagnosis resulted from contamination or allele drop-out.    Methods  Next-generation sequencing (NGS) was used to identify the possible  APC  mutations in an affected individual from a family with autosomal dominant colon cancer. Targeted sequencing then used to identify additional related individuals with the mutation. Three short tandem repeat (STR) loci, D5S299, D5S134, and D5S346, were used for PCR-based microsatellite analysis of the  APC  gene in the extended family.    Results  We identified an  APC : p.W553X mutation. The STR haplotype at the  APC  locus, A1B4C1, was shared by all clinically affected individuals with the  APC : p.W553X mutation. In addition, the  APC : p.D1822V variant was observed in 40% affected individuals and in two unaffected individuals.    Conclusion  We described a protein truncation mutation,  APC : p.W553X; demonstrated the value of  APC -linked STR markers (D5S299, D5S134, and D5S346) haplotypes; and suggested the potential role of these haplotypes in detecting loss of heterozygosity of the  APC  gene.

frontiers in genetics

An APC Mutation in a Large Chinese Kindred With Familial Adenomatous Polyposis Was Identified Using Both Next Generation Sequencing and Simple STR Marker Haplotypes