Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Jan 11;92:10.8.1-10.8.16.
doi: 10.1002/cphg.29.

Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP)

Affiliations

Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP)

Babi Ramesh Reddy Nallamilli et al. Curr Protoc Hum Genet. .

Abstract

Hereditary forms of colorectal cancer (CRC) account for up to 5% of total cases. Familial adenomatous polyposis (FAP) is an autosomal dominant condition affecting nearly 1 in 5000 people and accounts for only about 1% of all CRCs. It is characterized by the progressive development of hundreds to thousands of adenomatous colon polyps. The gene associated with FAP (APC) contains 15 coding exons. The mutation spectrum of the APC gene is broad in that 87% of causative mutations are point mutations (including other sequence variants) and around 10% to 15% are intragenic deletions and duplications. The strategy for molecular diagnostic testing for FAP involves initial full sequence analysis of APC for sequence variants followed by screening for deletion/duplications using microarray-based comparative genomic hybridization (array CGH) or Multiplex Ligation-dependent Probe Amplification (MLPA). Recently, next generation sequencing (NGS)-based targeted gene analysis has become clinically available for detection of point mutations and other sequence variants. This unit discusses detailed protocols for an NGS-based sequencing assay, PCR-based Sanger sequencing, and array CGH. © 2017 by John Wiley & Sons, Inc.

Keywords: APC gene; NGS-based sequencing; Sanger sequencing; array CGH.

Similar articles

See all similar articles

Cited by 3 articles

References

Literature Cited

    1. Bapat, B. , Berk, T. , Mitri, A. , Cohen, Z. , Gallinger, S. , and Stern, H. 1994. Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP). Hum. Mutat. 4:253-256. doi: 10.1002/humu.1380040404.
    1. Baxevanis, A.D. 2012. Searching online mendelian inheritance in man (OMIM) for information on genetic loci involved in human disease. Curr. Protoc. Hum. Genet. 73:9.13.1-9.13.10. doi: 10.1002/0471142905.hg0913s73.
    1. Benson, A.B., 3rd , Bekaii-Saab, T. , Chan, E. , Chen, Y.J. , Choti, M.A. , Cooper, H.S. , Engstrom, P.F. , Enzinger, P.C. , Fakih, M.G. , Fenton, M.J. , Fuchs, C.S. , Grem, J.L. , Hunt, S. , Kamel, A. , Leong, L.A. , Lin, E. , May, K.S. , Mulcahy, M.F. , Murphy, K. , Rohren, E. , Ryan, D.P. , Saltz, L. , Sharma, S. , Shibata, D. , Skibber, J.M. , Small, W., Jr. , Sofocleous, C.T. , Venook, A.P. , Willett, C.G. , Gregory, K.M. , and Freedman-Cass, D.A. 2013. Metastatic colon cancer, version 3.2013: Featured updates to the NCCN Guidelines. J. Natl. Compr. Canc. Netw. 11:141-152.
    1. Bodmer, W. 1999. Familial adenomatous polyposis (FAP) and its gene, APC. Cytogenet. Cell Genet. 86:99-104. doi: 10.1159/000015360.
    1. Chin, E.L. , da Silva, C. , and Hegde, M. 2013. Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations. BMC Genet 14:6. doi: 10.1186/1471-2156-14-6.

LinkOut - more resources

Feedback