Please use this identifier to cite or link to this item: https://doi.org/10.1038/modpathol.2012.62
DC FieldValue
dc.titleGene discovery in familial cancer syndromes by exome sequencing: Prospects for the elucidation of familial colorectal cancer type X
dc.contributor.authorKu, C.-S.
dc.contributor.authorCooper, D.N.
dc.contributor.authorWu, M.
dc.contributor.authorRoukos, D.H.
dc.contributor.authorPawitan, Y.
dc.contributor.authorSoong, R.
dc.contributor.authorIacopetta, B.
dc.date.accessioned2014-12-12T07:55:11Z
dc.date.available2014-12-12T07:55:11Z
dc.date.issued2012-08
dc.identifier.citationKu, C.-S., Cooper, D.N., Wu, M., Roukos, D.H., Pawitan, Y., Soong, R., Iacopetta, B. (2012-08). Gene discovery in familial cancer syndromes by exome sequencing: Prospects for the elucidation of familial colorectal cancer type X. Modern Pathology 25 (8) : 1055-1068. ScholarBank@NUS Repository. https://doi.org/10.1038/modpathol.2012.62
dc.identifier.issn08933952
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/116877
dc.description.abstractRecent advances in genotyping and sequencing technologies have provided powerful tools with which to explore the genetic basis of both Mendelian (monogenic) and sporadic (polygenic) diseases. Several hundred genome-wide association studies have so far been performed to explore the genetics of various polygenic or complex diseases including those cancers with a genetic predisposition. Exome sequencing has also proven very successful in elucidating the etiology of a range of hitherto poorly understood Mendelian disorders caused by high-penetrance mutations. Despite such progress, the genetic etiology of several familial cancers, such as familial colorectal cancer type X, has remained elusive. Familial colorectal cancer type X and Lynch syndrome are similar in terms of their fulfilling certain clinical criteria, but the former group is not characterized by germline mutations in DNA mismatch-repair genes. On the other hand, the genetics of sporadic colorectal cancer have been investigated by genome-wide association studies, leading to the identification of multiple new susceptibility loci. In addition, there is increasing evidence to suggest that familial and sporadic cancers exhibit similarities in terms of their genetic etiologies. In this review, we have summarized our current knowledge of familial colorectal cancer type X, discussed current approaches to probing its genetic etiology through the application of new sequencing technologies and the recruitment of the results of colorectal cancer genome-wide association studies, and explore the challenges that remain to be overcome given the uncertainty of the current genetic model (ie, monogenic vs polygenic) of familial colorectal cancer type X. © 2012 USCAP, Inc. All rights reserved.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1038/modpathol.2012.62
dc.sourceScopus
dc.subjectexome sequencing
dc.subjectfamilial cancers
dc.subjectfamilial colorectal cancer type X
dc.subjectgenome-wide association studies
dc.subjectMendelian
dc.subjectpolygenic
dc.typeReview
dc.contributor.departmentCANCER SCIENCE INSTITUTE OF SINGAPORE
dc.description.doi10.1038/modpathol.2012.62
dc.description.sourcetitleModern Pathology
dc.description.volume25
dc.description.issue8
dc.description.page1055-1068
dc.description.codenMODPE
dc.identifier.isiut000307222200001
Appears in Collections:Staff Publications

Show simple item record
Files in This Item:
There are no files associated with this item.

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.