Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays-Reference-Cited by-同舟云学术

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Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays

Published:2013-05 Issue:3 Volume:15 Page:380-390
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Pérez-Cabornero Lucia,Infante Mar,Velasco Eladio,Lastra Enrique,Miner Cristina,Durán Mercedes

Funder

regional government of Castile and León

predoctoral FPI fellowship

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference53 articles.

1. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer [Erratum appeared in Cell 1994, 77(1):1 p following 166];Fishel;Cell,1993

2. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer;Bronner;Nature,1994

3. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer;Nicolaides;Nature,1994

4. MSH2 genomic deletions are a frequent cause of HNPCC;Wijnen;Nat Genet,1998

5. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications;Lynch;Clin Genet,2009

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2. Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases;PLOS ONE;2019-10-24

3. Molecular Diagnostics in Colorectal Carcinoma;Clinics in Laboratory Medicine;2018-06

4. Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity;PLOS Genetics;2017-05-22

5. A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer;BMC Medical Genomics;2016-04-11

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