Unusual presentation of Lynch Syndrome

Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract a...

Descripción completa

Detalles Bibliográficos
Autores principales: Yu, Veronica PCC, Novelli, Marco, Payne, Stewart J, Fisher, Sam, Barnetson, Rebecca A, Frayling, Ian M, Barrett, Ann, Goudie, David, Ardern-Jones, Audrey, Eeles, Ros, Shanley, Susan
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2696413/
https://www.ncbi.nlm.nih.gov/pubmed/19493351
http://dx.doi.org/10.1186/1897-4287-7-12
_version_ 1782168258889121792
author Yu, Veronica PCC
Novelli, Marco
Payne, Stewart J
Fisher, Sam
Barnetson, Rebecca A
Frayling, Ian M
Barrett, Ann
Goudie, David
Ardern-Jones, Audrey
Eeles, Ros
Shanley, Susan
author_facet Yu, Veronica PCC
Novelli, Marco
Payne, Stewart J
Fisher, Sam
Barnetson, Rebecca A
Frayling, Ian M
Barrett, Ann
Goudie, David
Ardern-Jones, Audrey
Eeles, Ros
Shanley, Susan
author_sort Yu, Veronica PCC
collection PubMed
description Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management challenges.
format Text
id pubmed-2696413
institution National Center for Biotechnology Information
language English
publishDate 2009
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-26964132009-06-16 Unusual presentation of Lynch Syndrome Yu, Veronica PCC Novelli, Marco Payne, Stewart J Fisher, Sam Barnetson, Rebecca A Frayling, Ian M Barrett, Ann Goudie, David Ardern-Jones, Audrey Eeles, Ros Shanley, Susan Hered Cancer Clin Pract Case Report Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management challenges. BioMed Central 2009-06-03 /pmc/articles/PMC2696413/ /pubmed/19493351 http://dx.doi.org/10.1186/1897-4287-7-12 Text en Copyright © 2009 Yu et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Yu, Veronica PCC
Novelli, Marco
Payne, Stewart J
Fisher, Sam
Barnetson, Rebecca A
Frayling, Ian M
Barrett, Ann
Goudie, David
Ardern-Jones, Audrey
Eeles, Ros
Shanley, Susan
Unusual presentation of Lynch Syndrome
title Unusual presentation of Lynch Syndrome
title_full Unusual presentation of Lynch Syndrome
title_fullStr Unusual presentation of Lynch Syndrome
title_full_unstemmed Unusual presentation of Lynch Syndrome
title_short Unusual presentation of Lynch Syndrome
title_sort unusual presentation of lynch syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2696413/
https://www.ncbi.nlm.nih.gov/pubmed/19493351
http://dx.doi.org/10.1186/1897-4287-7-12
work_keys_str_mv AT yuveronicapcc unusualpresentationoflynchsyndrome
AT novellimarco unusualpresentationoflynchsyndrome
AT paynestewartj unusualpresentationoflynchsyndrome
AT fishersam unusualpresentationoflynchsyndrome
AT barnetsonrebeccaa unusualpresentationoflynchsyndrome
AT fraylingianm unusualpresentationoflynchsyndrome
AT barrettann unusualpresentationoflynchsyndrome
AT goudiedavid unusualpresentationoflynchsyndrome
AT ardernjonesaudrey unusualpresentationoflynchsyndrome
AT eelesros unusualpresentationoflynchsyndrome
AT shanleysusan unusualpresentationoflynchsyndrome

Ejemplares similares