Literature DB >> 26292665

Using Genetics to Identify Hereditary Colorectal Polyposis and Cancer Syndromes in Your Patient.

Carole Macaron1, Brandie Heald, Carol A Burke.   

Abstract

The majority of patients with colorectal polyps and cancer do not have a Mendelian cause of the disease. Age, lifestyle, and environmental factors interact with complex genetic traits to contribute to the etiology. However, approximately 5-10 % of patients with colorectal cancer (CRC) and more than 40 % of patients meeting specific clinical features of the hereditary polyposis syndromes have a discoverable, actionable genetic cause which will significantly alter their medical management.

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Year:  2015        PMID： 26292665     DOI： 10.1007/s11894-015-0463-z

Source DB:  PubMed          Journal:  Curr Gastroenterol Rep        ISSN： 1522-8037


  39 in total

Review 1.  ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

Authors:  Sapna Syngal; Randall E Brand; James M Church; Francis M Giardiello; Heather L Hampel; Randall W Burt
Journal:  Am J Gastroenterol       Date:  2015-02-03       Impact factor: 10.864

2.  The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome.

Authors:  Margaret O'Malley; Lisa LaGuardia; Matthew F Kalady; Joseph Parambil; Brandie Heald; Charis Eng; James Church; Carol A Burke
Journal:  Dis Colon Rectum       Date:  2012-08       Impact factor: 4.585

3.  Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps.

Authors:  Matthew B Yurgelun; Ajay Goel; Jason L Hornick; Ananda Sen; Danielle Kim Turgeon; Mack T Ruffin; Norman E Marcon; John A Baron; Robert S Bresalier; Sapna Syngal; Dean E Brenner; C Richard Boland; Elena M Stoffel
Journal:  Cancer Prev Res (Phila)       Date:  2012-01-18

4.  New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

Authors:  H F Vasen; P Watson; J P Mecklin; H T Lynch
Journal:  Gastroenterology       Date:  1999-06       Impact factor: 22.682

5.  Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

Authors:  Brandie Heald; Jessica Mester; Lisa Rybicki; Mohammed S Orloff; Carol A Burke; Charis Eng
Journal:  Gastroenterology       Date:  2010-06-27       Impact factor: 22.682

6.  Genetic diagnosis of familial breast cancer using clonal sequencing.

Authors:  Joanne E Morgan; Ian M Carr; Eamonn Sheridan; Carol E Chu; Bruce Hayward; Nick Camm; Helen A Lindsay; Chris J Mattocks; Alexander F Markham; David T Bonthron; Graham R Taylor
Journal:  Hum Mutat       Date:  2010-04       Impact factor: 4.878

7.  Risk of cancer in cases of suspected lynch syndrome without germline mutation.

Authors:  María Rodríguez-Soler; Lucía Pérez-Carbonell; Carla Guarinos; Pedro Zapater; Adela Castillejo; Victor M Barberá; Miriam Juárez; Xavier Bessa; Rosa M Xicola; Juan Clofent; Luis Bujanda; Francesc Balaguer; Josep-Maria Reñé; Luisa de-Castro; José C Marín-Gabriel; Angel Lanas; Joaquín Cubiella; David Nicolás-Pérez; Alejandro Brea-Fernández; Sergi Castellví-Bel; Cristina Alenda; Clara Ruiz-Ponte; Angel Carracedo; Antoni Castells; Montserrat Andreu; Xavier Llor; José L Soto; Artemio Payá; Rodrigo Jover
Journal:  Gastroenterology       Date:  2013-01-24       Impact factor: 22.682

8.  Fundic gland polyp dysplasia is common in familial adenomatous polyposis.

Authors:  Laura K Bianchi; Carol A Burke; Ana E Bennett; Rocio Lopez; Hennie Hasson; James M Church
Journal:  Clin Gastroenterol Hepatol       Date:  2008-02       Impact factor: 11.382

9.  Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.

Authors:  Yvonne M C Hendriks; Anja Wagner; Hans Morreau; Fred Menko; Astrid Stormorken; Franz Quehenberger; Lodewijk Sandkuijl; Pal Møller; Maurizio Genuardi; Hans Van Houwelingen; Carli Tops; Marjo Van Puijenbroek; Paul Verkuijlen; Gemma Kenter; Anneke Van Mil; Hanne Meijers-Heijboer; Gita B Tan; Martijn H Breuning; Riccardo Fodde; Juul Th Wijnen; Annette H J T Bröcker-Vriends; Hans Vasen
Journal:  Gastroenterology       Date:  2004-07       Impact factor: 22.682

10.  A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.

Authors:  E Theodoratou; H Campbell; A Tenesa; R Houlston; E Webb; S Lubbe; P Broderick; S Gallinger; E M Croitoru; M A Jenkins; A K Win; S P Cleary; T Koessler; P D Pharoah; S Küry; S Bézieau; B Buecher; N A Ellis; P Peterlongo; K Offit; L A Aaltonen; S Enholm; A Lindblom; X-L Zhou; I P Tomlinson; V Moreno; I Blanco; G Capellà; R Barnetson; M E Porteous; M G Dunlop; S M Farrington
Journal:  Br J Cancer       Date:  2010-11-09       Impact factor: 7.640
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  1 in total

1.  NTHL1 defines novel cancer syndrome.

Authors:  Roland P Kuiper; Nicoline Hoogerbrugge
Journal:  Oncotarget       Date:  2015-10-27
  1 in total

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