Literature DB >> 22157284

Inherited colorectal cancer syndromes.

Fay Kastrinos1, Sapna Syngal.   

Abstract

Colorectal cancer is the most common gastrointestinal malignancy and the second leading cause of cancer death in both men and women in the United States. Most colorectal cancer cases diagnosed annually are due to sporadic events, but up to 5% are attributed to known monogenic disorders including Lynch syndrome, familial adenomatous polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. These inherited colorectal cancer syndromes confer a markedly increased risk for the development of multiple cancers, and predictive genetic testing is available to identify mutation carriers and at-risk family members. Through personalized strategies for diagnosis and management, a substantial reduction in morbidity and mortality has been appreciated among patients at highest risk for the development of colorectal cancer.

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Year:  2011        PMID: 22157284      PMCID: PMC3240819          DOI: 10.1097/PPO.0b013e318237e408

Source DB:  PubMed          Journal:  Cancer J        ISSN: 1528-9117            Impact factor:   3.360


  71 in total

Review 1.  Inherited polyposis syndromes: molecular mechanisms, clinicopathology, and genetic testing.

Authors:  Brett W Doxey; Scott K Kuwada; Randall W Burt
Journal:  Clin Gastroenterol Hepatol       Date:  2005-07       Impact factor: 11.382

2.  Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Authors:  Nada Al-Tassan; Nikolas H Chmiel; Julie Maynard; Nick Fleming; Alison L Livingston; Geraint T Williams; Angela K Hodges; D Rhodri Davies; Sheila S David; Julian R Sampson; Jeremy P Cheadle
Journal:  Nat Genet       Date:  2002-01-30       Impact factor: 38.330

Review 3.  Familial adenomatous polyposis.

Authors:  Polymnia Galiatsatos; William D Foulkes
Journal:  Am J Gastroenterol       Date:  2006-02       Impact factor: 10.864

4.  Prediction of germline mutations and cancer risk in the Lynch syndrome.

Authors:  Sining Chen; Wenyi Wang; Shing Lee; Khedoudja Nafa; Johanna Lee; Kathy Romans; Patrice Watson; Stephen B Gruber; David Euhus; Kenneth W Kinzler; Jeremy Jass; Steven Gallinger; Noralane M Lindor; Graham Casey; Nathan Ellis; Francis M Giardiello; Kenneth Offit; Giovanni Parmigiani
Journal:  JAMA       Date:  2006-09-27       Impact factor: 56.272

Review 5.  Recently identified colon cancer predispositions: MYH and MSH6 mutations.

Authors:  Fay Kastrinos; Sapna Syngal
Journal:  Semin Oncol       Date:  2007-10       Impact factor: 4.929

6.  Risk of pancreatic cancer in families with Lynch syndrome.

Authors:  Fay Kastrinos; Bhramar Mukherjee; Nabihah Tayob; Fei Wang; Jennifer Sparr; Victoria M Raymond; Prathap Bandipalliam; Elena M Stoffel; Stephen B Gruber; Sapna Syngal
Journal:  JAMA       Date:  2009-10-28       Impact factor: 56.272

7.  MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps.

Authors:  Liang Wang; Linnea M Baudhuin; Lisa A Boardman; Kelle J Steenblock; Gloria M Petersen; Kevin C Halling; Amy J French; Ruth A Johnson; Lawrence J Burgart; Kari Rabe; Noralane M Lindor; Stephen N Thibodeau
Journal:  Gastroenterology       Date:  2004-07       Impact factor: 22.682

8.  American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

Authors: 
Journal:  J Clin Oncol       Date:  2003-04-11       Impact factor: 44.544

9.  Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer.

Authors:  Christina Fleischmann; Julian Peto; Jeremy Cheadle; Bindiya Shah; Julian Sampson; Richard S Houlston
Journal:  Int J Cancer       Date:  2004-04-20       Impact factor: 7.396

10.  Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

Authors:  Randall W Burt; Mark F Leppert; Martha L Slattery; Wade S Samowitz; Lisa N Spirio; Richard A Kerber; Scott K Kuwada; Deborah W Neklason; James A Disario; Elaine Lyon; J Preston Hughes; William Y Chey; Raymond L White
Journal:  Gastroenterology       Date:  2004-08       Impact factor: 22.682

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  46 in total

1.  APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.

Authors:  Marialuisa Quadri; Annalisa Vetro; Viviana Gismondi; Monica Marabelli; Lucio Bertario; Paola Sala; Liliana Varesco; Orsetta Zuffardi; Guglielmina N Ranzani
Journal:  Fam Cancer       Date:  2015-03       Impact factor: 2.375

Review 2.  History, genetics, and strategies for cancer prevention in Lynch syndrome.

Authors:  Fay Kastrinos; Elena M Stoffel
Journal:  Clin Gastroenterol Hepatol       Date:  2013-07-23       Impact factor: 11.382

3.  The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Polyposis Syndromes.

Authors:  Daniel Herzig; Karin Hardiman; Martin Weiser; Nancy You; Ian Paquette; Daniel L Feingold; Scott R Steele
Journal:  Dis Colon Rectum       Date:  2017-09       Impact factor: 4.585

4.  Efficient computation of the joint probability of multiple inherited risk alleles from pedigree data.

Authors:  Thomas Madsen; Danielle Braun; Gang Peng; Giovanni Parmigiani; Lorenzo Trippa
Journal:  Genet Epidemiol       Date:  2018-06-25       Impact factor: 2.135

Review 5.  Association Between the hOGG1 1245C>G (rs1052133) Polymorphism and Susceptibility to Colorectal Cancer: a Meta-analysis Based on 7010 Cases and 10,674 Controls.

Authors:  Yaser Ghelmani; Fatemeh Asadian; Mohammad Hossein Antikchi; Seyed Alireza Dastgheib; Seyed Hossein Shaker; Jamal Jafari-Nedooshan; Hossein Neamatzadeh
Journal:  J Gastrointest Cancer       Date:  2020-10-06

6.  Prevalence of Synchronous Oligopolyposis in Incident Colorectal Cancer: A Population-Based Study.

Authors:  Juan M Marqués-Lespier; Marievelisse Soto-Salgado; María González-Pons; Vanessa Méndez; Katerina Freyre; Carlos Beltrán; Luis R Pericchi; Marcia Cruz-Correa
Journal:  P R Health Sci J       Date:  2018-03       Impact factor: 0.705

Review 7.  Colorectal cancer in young adults.

Authors:  Jennifer A Inra; Sapna Syngal
Journal:  Dig Dis Sci       Date:  2014-12-06       Impact factor: 3.199

8.  Identification of Lynch syndrome among patients with colorectal cancer.

Authors:  Leticia Moreira; Francesc Balaguer; Noralane Lindor; Albert de la Chapelle; Heather Hampel; Lauri A Aaltonen; John L Hopper; Loic Le Marchand; Steven Gallinger; Polly A Newcomb; Robert Haile; Stephen N Thibodeau; Shanaka Gunawardena; Mark A Jenkins; Daniel D Buchanan; John D Potter; John A Baron; Dennis J Ahnen; Victor Moreno; Montserrat Andreu; Maurizio Ponz de Leon; Anil K Rustgi; Antoni Castells
Journal:  JAMA       Date:  2012-10-17       Impact factor: 56.272

Review 9.  Pancreatic ductal adenocarcinoma: risk factors, screening, and early detection.

Authors:  Andrew E Becker; Yasmin G Hernandez; Harold Frucht; Aimee L Lucas
Journal:  World J Gastroenterol       Date:  2014-08-28       Impact factor: 5.742

10.  Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify.

Authors:  Trilokesh D Kidambi; Dena Goldberg; Robert Nussbaum; Amie Blanco; Sarah E Umetsu; Jonathan P Terdiman; Jeffrey K Lee
Journal:  Clin J Gastroenterol       Date:  2018-05-15
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