Literature DB >> 23532885

Classifying MMR variants: time for revised nomenclature in Lynch syndrome.

Y Nancy You1, Eduardo Vilar.   

Abstract

Inactivating germline mutations in DNA mismatch repair (MMR) genes are diagnostic for Lynch syndrome. However, the clinical significance of missense variants is uncertain. A threshold level of compromised MLH1 expression, correlating with greater protein instability and MMR functional defect, has been identified to help classify the pathogenicity of missense variants. ©2013 AACR.

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Year:  2013        PMID： 23532885      PMCID： PMC3854938          DOI： 10.1158/1078-0432.CCR-13-0392

Source DB:  PubMed          Journal:  Clin Cancer Res        ISSN： 1078-0432            Impact factor:   12.531


  12 in total

Review 1.  Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models.

Authors:  Amanda B Spurdle
Journal:  Curr Opin Genet Dev       Date:  2010-04-22       Impact factor: 5.578

2.  Comprehensive functional assessment of MLH1 variants of unknown significance.

Authors:  Ester Borràs; Marta Pineda; Angela Brieger; Inga Hinrichsen; Carolina Gómez; Matilde Navarro; Judit Balmaña; Teresa Ramón y Cajal; Asunción Torres; Joan Brunet; Ignacio Blanco; Guido Plotz; Conxi Lázaro; Gabriel Capellá
Journal:  Hum Mutat       Date:  2012-07-12       Impact factor: 4.878

3.  The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC).

Authors:  H F Vasen; J P Mecklin; P M Khan; H T Lynch
Journal:  Dis Colon Rectum       Date:  1991-05       Impact factor: 4.585

Review 4.  Lynch or not Lynch? Is that always a question?

Authors:  Chrystelle Colas; Florence Coulet; Magali Svrcek; Ada Collura; Jean-François Fléjou; Alex Duval; Richard Hamelin
Journal:  Adv Cancer Res       Date:  2012       Impact factor: 6.242

5.  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

6.  Hereditary factors in cancer. Study of two large midwestern kindreds.

Authors:  H T Lynch; M W Shaw; C W Magnuson; A L Larsen; A J Krush
Journal:  Arch Intern Med       Date:  1966-02

7.  Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X.

Authors:  Noralane M Lindor; Kari Rabe; Gloria M Petersen; Robert Haile; Graham Casey; John Baron; Steve Gallinger; Bharati Bapat; Melyssa Aronson; John Hopper; Jeremy Jass; Loic LeMarchand; John Grove; John Potter; Polly Newcomb; Jonathan P Terdiman; Peggy Conrad; Gabriella Moslein; Richard Goldberg; Argyrios Ziogas; Hoda Anton-Culver; Mariza de Andrade; Kim Siegmund; Stephen N Thibodeau; Lisa A Boardman; Daniela Seminara
Journal:  JAMA       Date:  2005-04-27       Impact factor: 56.272

8.  Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.

Authors:  Inga Hinrichsen; Angela Brieger; Jörg Trojan; Stefan Zeuzem; Mef Nilbert; Guido Plotz
Journal:  Clin Cancer Res       Date:  2013-02-12       Impact factor: 12.531

9.  A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

Authors:  Bryony A Thompson; David E Goldgar; Carol Paterson; Mark Clendenning; Rhiannon Walters; Sven Arnold; Michael T Parsons; Walsh Michael D; Steven Gallinger; Robert W Haile; John L Hopper; Mark A Jenkins; Loic Lemarchand; Noralane M Lindor; Polly A Newcomb; Stephen N Thibodeau; Joanne P Young; Daniel D Buchanan; Sean V Tavtigian; Amanda B Spurdle
Journal:  Hum Mutat       Date:  2012-10-11       Impact factor: 4.878

10.  Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Authors:  Sharon E Plon; Diana M Eccles; Douglas Easton; William D Foulkes; Maurizio Genuardi; Marc S Greenblatt; Frans B L Hogervorst; Nicoline Hoogerbrugge; Amanda B Spurdle; Sean V Tavtigian
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878
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  4 in total

1.  DNA Mismatch Repair Deficiency in Rectal Cancer: Benchmarking Its Impact on Prognosis, Neoadjuvant Response Prediction, and Clinical Cancer Genetics.

Authors:  Nicole de Rosa; Miguel A Rodriguez-Bigas; George J Chang; Jula Veerapong; Ester Borras; Sunil Krishnan; Brian Bednarski; Craig A Messick; John M Skibber; Barry W Feig; Patrick M Lynch; Eduardo Vilar; Y Nancy You
Journal:  J Clin Oncol       Date:  2016-07-18       Impact factor: 44.544

2.  Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.

Authors:  Maureen E Mork; Andrea Rodriguez; Melissa W Taggart; Miguel A Rodriguez-Bigas; Patrick M Lynch; Sarah A Bannon; Y Nancy You; Eduardo Vilar
Journal:  Fam Cancer       Date:  2017-07       Impact factor: 2.375

3.  Colorectal Cancer in the Adolescent and Young Adult Population.

Authors:  Y Nancy You; Lucas D Lee; Benjamin W Deschner; David Shibata
Journal:  JCO Oncol Pract       Date:  2020-01

4.  High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer.

Authors:  Maureen E Mork; Y Nancy You; Jun Ying; Sarah A Bannon; Patrick M Lynch; Miguel A Rodriguez-Bigas; Eduardo Vilar
Journal:  J Clin Oncol       Date:  2015-07-20       Impact factor: 44.544
  4 in total

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