S
Susan K. Clark
Researcher at Imperial College London
Publications - 173
Citations - 7051
Susan K. Clark is an academic researcher from Imperial College London. The author has contributed to research in topics: Familial adenomatous polyposis & Pouchitis. The author has an hindex of 34, co-authored 163 publications receiving 5898 citations. Previous affiliations of Susan K. Clark include London North West Healthcare NHS Trust & Northwest University (China).
Papers
More filters
Journal ArticleDOI
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Claire Palles,Jean-Baptiste Cazier,Kimberley Howarth,Enric Domingo,Angela M. Jones,Peter Broderick,Zoe Kemp,Sarah L. Spain,Estrella Guarino,Israel Salguero,Amy L. Sherborne,Daniel Chubb,Luis G. Carvajal-Carmona,Yusanne Ma,Kulvinder Kaur,Sara E. Dobbins,Ella Barclay,Maggie Gorman,Lynn Martin,Michal Kovac,Michal Kovac,Sean Humphray,Anneke Lucassen,Christopher Holmes,David Bentley,Peter Donnelly,Peter Donnelly,Jenny C. Taylor,Christos Petridis,Rebecca Roylance,Elinor J. Sawyer,David J. Kerr,Susan K. Clark,Jonathan M. Grimes,Stephen E. Kearsey,Huw Thomas,Gilean McVean,Richard S. Houlston,Ian Tomlinson +38 more
TL;DR: A recently described group of hypermutant, microsatellite-stable CRCs is likely to be caused by somatic POLE mutations affecting the exonuclease domain, predicted to cause a defect in the correction of mispaired bases inserted during DNA replication.
Journal ArticleDOI
Peutz–Jeghers syndrome: a systematic review and recommendations for management
Andrew D Beggs,Andrew Latchford,Hans F. A. Vasen,G Moslein,Angel Alonso,Stefan Aretz,Lucio Bertario,Ignacio Blanco,Steffen Bülow,John Burn,Gabriel Capellá,Chrystelle Colas,Werner Friedl,Peter Möller,Frederik J. Hes,Heikki Järvinen,Mecklin Jp,Fokko M. Nagengast,Yann Parc,Robin K. S. Phillips,W. Hyer,M. Ponz de Leon,Laura Renkonen-Sinisalo,Julian R. Sampson,Astrid Stormorken,Sabine Tejpar,Huw Thomas,Juul T. Wijnen,Susan K. Clark,Shirley Hodgson +29 more
TL;DR: In this article, the authors present guidelines for surveillance and management of individuals with Peutz-Jeghers syndrome (PJS), an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation.
Journal ArticleDOI
Erratum: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas (Nature Genetics (2013) 45 (136-144))
Claire Palles,Jean-Baptiste Cazier,Kimberley Howarth,Enric Domingo,Alison Jones,Peter Broderick,Zoe Kemp,Sarah L. Spain,E G Almeida,Israel Salguero,Amy L. Sherborne,Daniel Chubb,Luis G. Carvajal-Carmona,Yussanne Ma,Kulvinder Kaur,S Dobbins,Ella Barclay,Margaret Gorman,Lynn Martin,Michal Kovac,Sean Humphray,Anneke Lucassen,Christopher Holmes,David Bentley,Peter Donnelly,Jenny C. Taylor,Christos Petridis,Rebecca Roylance,Elinor J. Sawyer,David J. Kerr,Susan K. Clark,Jonathan M. Grimes,Stephen E. Kearsey,Thomas Hjw.,Gil McVean,Richard S. Houlston,I. P. M. Tomlinson +36 more
TL;DR: The aim of this work is to contribute to the understanding of why certain types of mutations occur in people over a long period of time and to contribute towards the design of treatments for these diseases.
Journal ArticleDOI
The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.
H. Lamlum,Mohammad Ilyas,Andrew Rowan,Susan K. Clark,Victoria A. Johnson,Jennie Bell,Ian M. Frayling,Jason A. Efstathiou,Kevin Pack,S. J. Payne,Rebecca Roylance,Patricia Gorman,Denise Sheer,K Neale,Robin K. S. Phillips,Ian C. Talbot,Walter F. Bodmer,Ian Tomlinson +17 more
TL;DR: It is found that FAP patients with germline APC mutations within a small region mainly show allelic loss in their colorectal adenomas, in contrast to other F AP patients, whose 'second hits' tend to occur by truncating mutations in the mutation cluster region.
Journal ArticleDOI
Tight junctions in inflammatory bowel diseases and inflammatory bowel disease associated colorectal cancer.
Jonathan Landy,E. Ronde,Nick R. English,Susan K. Clark,Ailsa Hart,Stella C. Knight,Paul J. Ciclitira,Hafid O. Al-Hassi +7 more
TL;DR: An overview of recent literature focusing on the role of tight junction proteins, in particular claudins, in inflammatory bowel diseases and inflammatory bowel disease associated colorectal cancer is given.