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Update on hereditary colorectal cancer

Da Silva, Felipe Carneiro; Wernhoff, Patrik LU ; Dominguez-Barrera, Constantino and Dominguez-Valentin, Mev (2016) In Anticancer Research 36(9). p.4399-4406
Abstract

In the past two decades, significant advances have been made in our understanding of colorectal (CRC) tumors with DNA mismatch (MMR) repair deficiency. The knowledge from molecular and genetic alterations in a variety of clinical conditions has refined the disease terminology and classification. Hereditary non-polyposis colorectal cancer (HNPCC) encompasses a spectrum of conditions that have significant phenotypic overlapping that makes clinical diagnosis a challenging task. Distinguishing among the HNPCC disorders is clinically important, as the approach to surveillance for patients and their at-risk family members differs according to risks for colonic and extracolonic cancer associated with each syndrome. Prospective and... (More)

In the past two decades, significant advances have been made in our understanding of colorectal (CRC) tumors with DNA mismatch (MMR) repair deficiency. The knowledge from molecular and genetic alterations in a variety of clinical conditions has refined the disease terminology and classification. Hereditary non-polyposis colorectal cancer (HNPCC) encompasses a spectrum of conditions that have significant phenotypic overlapping that makes clinical diagnosis a challenging task. Distinguishing among the HNPCC disorders is clinically important, as the approach to surveillance for patients and their at-risk family members differs according to risks for colonic and extracolonic cancer associated with each syndrome. Prospective and next-generation studies will provide valuable clinical information regarding the natural history of disease that will help differentiate the Lynch syndrome mimics and guide diagnosis and management for heterogeneous conditions currently grouped under the category of familial CRC. The review is intended to present and discuss the molecular nature of various conditions related to MMR deficiency and discusses the tools and strategies that have been used in detecting these conditions.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
4ereditary non-polyposis colorectal cancer, FCCTX, Lynch syndrome, Lynch-like syndrome, Mismatch repair, Review
in
Anticancer Research
volume
36
issue
9
pages
8 pages
publisher
International Institute of Cancer Research
external identifiers
  • scopus:84991607760
  • wos:000384001800003
ISSN
0250-7005
DOI
10.21873/anticanres.10983
language
English
LU publication?
yes
id
deea6522-d268-44b9-a069-90d74f83d491
date added to LUP
2016-11-04 09:48:22
date last changed
2017-09-18 11:29:19
@article{deea6522-d268-44b9-a069-90d74f83d491,
  abstract     = {<p>In the past two decades, significant advances have been made in our understanding of colorectal (CRC) tumors with DNA mismatch (MMR) repair deficiency. The knowledge from molecular and genetic alterations in a variety of clinical conditions has refined the disease terminology and classification. Hereditary non-polyposis colorectal cancer (HNPCC) encompasses a spectrum of conditions that have significant phenotypic overlapping that makes clinical diagnosis a challenging task. Distinguishing among the HNPCC disorders is clinically important, as the approach to surveillance for patients and their at-risk family members differs according to risks for colonic and extracolonic cancer associated with each syndrome. Prospective and next-generation studies will provide valuable clinical information regarding the natural history of disease that will help differentiate the Lynch syndrome mimics and guide diagnosis and management for heterogeneous conditions currently grouped under the category of familial CRC. The review is intended to present and discuss the molecular nature of various conditions related to MMR deficiency and discusses the tools and strategies that have been used in detecting these conditions.</p>},
  author       = {Da Silva, Felipe Carneiro and Wernhoff, Patrik and Dominguez-Barrera, Constantino and Dominguez-Valentin, Mev},
  issn         = {0250-7005},
  keyword      = {4ereditary non-polyposis colorectal cancer,FCCTX,Lynch syndrome,Lynch-like syndrome,Mismatch repair,Review},
  language     = {eng},
  month        = {09},
  number       = {9},
  pages        = {4399--4406},
  publisher    = {International Institute of Cancer Research},
  series       = {Anticancer Research},
  title        = {Update on hereditary colorectal cancer},
  url          = {http://dx.doi.org/10.21873/anticanres.10983},
  volume       = {36},
  year         = {2016},
}