Literature DB >> 16136383

The incidence of Lynch syndrome.

Albert de la Chapelle1.   

Abstract

Lynch syndrome (LS) here is defined as carriership of a deleterious mismatch repair (MMR) gene mutation. By screening for MMR gene mutations in unselected colorectal or endometrial cancer patients, it was found that the prevalence of LS in colorectal and endometrial cancer patients is 1-3%. On extrapolation to the entire population, the incidence of LS is between 1:2000 and 1:660. As all screening methods are less than 100% sensitive, the above figures are underestimates.

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Year:  2005        PMID： 16136383     DOI： 10.1007/s10689-004-5811-3

Source DB:  PubMed          Journal:  Fam Cancer        ISSN： 1389-9600            Impact factor:   2.375


  38 in total

1.  The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer.

Authors:  W S Samowitz; K Curtin; H H Lin; M A Robertson; D Schaffer; M Nichols; K Gruenthal; M F Leppert; M L Slattery
Journal:  Gastroenterology       Date:  2001-10       Impact factor: 22.682

2.  Re: Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.

Authors:  D G Evans; C L Wu; S Walsh; I Hansen; L Verma; C Robinson; R Kingston; E R Maher
Journal:  J Natl Cancer Inst       Date:  2001-05-02       Impact factor: 13.506

3.  Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population.

Authors:  M Ravnik-Glavac; U Potocnik; D Glavac
Journal:  J Med Genet       Date:  2000-07       Impact factor: 6.318

4.  Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.

Authors:  S Syngal; E A Fox; C Li; M Dovidio; C Eng; R D Kolodner; J E Garber
Journal:  JAMA       Date:  1999-07-21       Impact factor: 56.272

5.  The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

Authors:  J M Cunningham; C Y Kim; E R Christensen; D J Tester; Y Parc; L J Burgart; K C Halling; S K McDonnell; D J Schaid; C Walsh Vockley; V Kubly; H Nelson; V V Michels; S N Thibodeau
Journal:  Am J Hum Genet       Date:  2001-08-24       Impact factor: 11.025

6.  Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

Authors:  S J Laken; G M Petersen; S B Gruber; C Oddoux; H Ostrer; F M Giardiello; S R Hamilton; H Hampel; A Markowitz; D Klimstra; S Jhanwar; S Winawer; K Offit; M C Luce; K W Kinzler; B Vogelstein
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

Review 7.  Genetic predisposition to colorectal cancer.

Authors:  Albert de la Chapelle
Journal:  Nat Rev Cancer       Date:  2004-10       Impact factor: 60.716

8.  Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.

Authors:  Hidewaki Nakagawa; Janet C Lockman; Wendy L Frankel; Heather Hampel; Kelle Steenblock; Lawrence J Burgart; Stephen N Thibodeau; Albert de la Chapelle
Journal:  Cancer Res       Date:  2004-07-15       Impact factor: 12.701

9.  Identification of hereditary nonpolyposis colorectal cancer in the general population. The 6-year experience of a population-based registry.

Authors:  M Ponz de Leon; R Sassatelli; P Benatti; L Roncucci
Journal:  Cancer       Date:  1993-06-01       Impact factor: 6.860

10.  Frequency of hereditary nonpolyposis colorectal cancer. A prospective multicenter study in Finland.

Authors:  J P Mecklin; H J Järvinen; A Hakkiluoto; H Hallikas; K M Hiltunen; N Härkönen; I Kellokumpu; S Laitinen; J Ovaska; J Tulikoura
Journal:  Dis Colon Rectum       Date:  1995-06       Impact factor: 4.585
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  56 in total

Review 1.  The inherited genetics of ovarian and endometrial cancer.

Authors:  Simon A Gayther; Paul D P Pharoah
Journal:  Curr Opin Genet Dev       Date:  2010-04-24       Impact factor: 5.578

2.  Human MSH2 (hMSH2) protein controls ATP processing by hMSH2-hMSH6.

Authors:  Christopher D Heinen; Jennifer L Cyr; Christopher Cook; Nidhi Punja; Miho Sakato; Robert A Forties; Juana Martin Lopez; Manju M Hingorani; Richard Fishel
Journal:  J Biol Chem       Date:  2011-09-19       Impact factor: 5.157

Review 3.  Mouse models of inherited cancer syndromes.

Authors:  Sohail Jahid; Steven Lipkin
Journal:  Hematol Oncol Clin North Am       Date:  2010-12       Impact factor: 3.722

4.  Novel application of structural equation modeling to correlation structure analysis of CpG island methylation in colorectal cancer.

Authors:  Noriko Tanaka; Curtis Huttenhower; Katsuhiko Nosho; Yoshifumi Baba; Kaori Shima; John Quackenbush; Kevin M Haigis; Edward Giovannucci; Charles S Fuchs; Shuji Ogino
Journal:  Am J Pathol       Date:  2010-10-29       Impact factor: 4.307

5.  Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family.

Authors:  Tanya-Kirilova Kadiyska; Radka-Petrova Kaneva; Dimitar-Georgiev Nedin; Alexandrina-Borisova Alexandrova; Antonina-Todorova Gegova; Stoyan-Ganchev Lalchev; Tatyana Christova; Vanio-Ivanov Mitev; Juergen Horst; Nadja Bogdanova; Ivo-Marinov Kremensky
Journal:  World J Gastroenterol       Date:  2006-12-28       Impact factor: 5.742

6.  Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients.

Authors:  Francesc Balaguer; Judith Balmaña; Sergi Castellví-Bel; Ewout W Steyerberg; Montserrat Andreu; Xavier Llor; Rodrigo Jover; Sapna Syngal; Antoni Castells
Journal:  Gastroenterology       Date:  2007-10-26       Impact factor: 22.682

Review 7.  Molecular classification and correlates in colorectal cancer.

Authors:  Shuji Ogino; Ajay Goel
Journal:  J Mol Diagn       Date:  2007-12-28       Impact factor: 5.568

8.  Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012.

Authors:  Nils Rahner; Verena Steinke; Brigitte Schlegelberger; Francois Eisinger; Pierre Hutter; Sylviane Olschwang
Journal:  Eur J Hum Genet       Date:  2012-08-15       Impact factor: 4.246

9.  Worldwide Practice Patterns in Lynch Syndrome Diagnosis and Management, Based on Data From the International Mismatch Repair Consortium.

Authors:  Jennifer Y Pan; Robert W Haile; Allyson Templeton; Finlay Macrae; FeiFei Qin; Vandana Sundaram; Uri Ladabaum
Journal:  Clin Gastroenterol Hepatol       Date:  2018-04-24       Impact factor: 11.382

10.  Diet and epigenetics in colon cancer.

Authors:  Minna Nystrom; Marja Mutanen
Journal:  World J Gastroenterol       Date:  2009-01-21       Impact factor: 5.742
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