Literature DB >> 27294005

The mRNA level of MLH1 in peripheral blood is a biomarker for the diagnosis of hereditary nonpolyposis colorectal cancer.

Hong Yu1, Hui Li2, Yongan Cui3, Wei Xiao4, Guihong Dai4, Junxing Huang3, Chaofu Wang5.   

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by functional defects in mismatch repair (MMR) genes, including mutL homolog 1 (MLH1) and mutS homolog 2 (MSH2). This study aimed to assess whether the mRNA expression of MLH1 in peripheral blood could be used as a biomarkers for the diagnosis of HNPCC. The mRNA level of MLH1 was determined in 19 HNPCC families (46 members) using real-time quantitative polymerase chain reaction (qPCR). The mRNA levels of MLH1 in HNPCC were significantly lower than controls (P < 0.001). Receiver operating characteristic (ROC) curve showed a high diagnostic value of the mRNA level of MLH1 for the diagnosis of HNPCC with the area under curve of 0.858. At an optimal cut-off value (0.511), the mRNA level of MLH1 had a sensitivity of 81.3% and a specificity of 86.7% for distinguishing HNPCC from controls. In conclusion, the mRNA expression of MLH1 in peripheral blood may serve as a biomarker for the diagnosis of HNPCC.

Entities:  

Keywords:  Hereditary nonpolyposis colorectal cancer; MLH1; diagnosis; mismatch repair gene; mutation

Year:  2016        PMID： 27294005      PMCID： PMC4889726     

Source DB:  PubMed          Journal:  Am J Cancer Res        ISSN： 2156-6976            Impact factor:   6.166


  22 in total

1.  Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms.

Authors:  Jinru Shia; David S Klimstra; Khedoudja Nafa; Kenneth Offit; Jose G Guillem; Arnold J Markowitz; William L Gerald; Nathan A Ellis
Journal:  Am J Surg Pathol       Date:  2005-01       Impact factor: 6.394

2.  Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.

Authors:  O M Sieber; K Heinimann; P Gorman; H Lamlum; M Crabtree; C A Simpson; D Davies; K Neale; S V Hodgson; R R Roylance; R K S Phillips; W F Bodmer; I P M Tomlinson
Journal:  Proc Natl Acad Sci U S A       Date:  2002-12-16       Impact factor: 11.205

3.  Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.

Authors:  M Miyaki; M Konishi; K Tanaka; R Kikuchi-Yanoshita; M Muraoka; M Yasuno; T Igari; M Koike; M Chiba; T Mori
Journal:  Nat Genet       Date:  1997-11       Impact factor: 38.330

4.  Methylation of the hMLH1 and hMSH2 promoter in early-onset sporadic colorectal carcinomas with microsatellite instability.

Authors:  Hee C Kim; Chang N Kim; Chang S Yu; Seon A Roh; Jin C Kim
Journal:  Int J Colorectal Dis       Date:  2002-11-30       Impact factor: 2.571

5.  A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

Authors:  Mark Drost; Jos e B M Zonneveld; Linda van Dijk; Hans Morreau; Carli M Tops; Hans F A Vasen; Juul T Wijnen; Niels de Wind
Journal:  Hum Mutat       Date:  2010-03       Impact factor: 4.878

6.  Microsatellite instability in the peripheral blood leukocytes of HNPCC patients.

Authors:  Mary I Coolbaugh-Murphy; Jing-Ping Xu; Louis S Ramagli; Brian C Ramagli; Barry W Brown; Patrick M Lynch; Stanley R Hamilton; Marsha L Frazier; Michael J Siciliano
Journal:  Hum Mutat       Date:  2010-03       Impact factor: 4.878

7.  The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.

Authors:  R Fishel; M K Lescoe; M R Rao; N G Copeland; N A Jenkins; J Garber; M Kane; R Kolodner
Journal:  Cell       Date:  1993-12-03       Impact factor: 41.582

Review 8.  The hMSH2 and hMLH1 genes in hereditary nonpolyposis colorectal cancer.

Authors:  Patrick M Lynch
Journal:  Surg Oncol Clin N Am       Date:  2009-10       Impact factor: 3.495

9.  Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.

Authors:  N C Nicolaides; N Papadopoulos; B Liu; Y F Wei; K C Carter; S M Ruben; C A Rosen; W A Haseltine; R D Fleischmann; C M Fraser
Journal:  Nature       Date:  1994-09-01       Impact factor: 49.962

10.  R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer(HNPCC) in an Indian extended family.

Authors:  Singh Rajender; Singh Pooja; M V Kranthi Kumar; Rajendra Karwasra; Lalji Singh; Kumarasamy Thangaraj
Journal:  Indian J Med Res       Date:  2010-01       Impact factor: 2.375
View more
  4 in total

Review 1.  Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome.

Authors:  Gergely Buglyó; Jakub Styk; Ondrej Pös; Ádám Csók; Vanda Repiska; Beáta Soltész; Tomas Szemes; Bálint Nagy
Journal:  Int J Mol Sci       Date:  2022-04-13       Impact factor: 6.208

2.  A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level.

Authors:  Yanni Zhang; Huishuang Chen; Zhiyu Peng; Santasree Banerjee; Wei Li; Zhaolong Zhao; Jianbin Sun; Jian Lv; Hui Huang; Ru Bai; Keke Lin; Zhongxin Li
Journal:  Biomed Res Int       Date:  2018-11-14       Impact factor: 3.411

3.  Globin mRNA reduction for whole-blood transcriptome sequencing.

Authors:  Kaarel Krjutškov; Mariann Koel; Anne Mari Roost; Shintaro Katayama; Elisabet Einarsdottir; Eeva-Mari Jouhilahti; Cilla Söderhäll; Ülle Jaakma; Mario Plaas; Liselotte Vesterlund; Hannes Lohi; Andres Salumets; Juha Kere
Journal:  Sci Rep       Date:  2016-08-12       Impact factor: 4.379

4.  Semi‑random mutagenesis profile of BCR‑ABL during imatinib resistance acquirement in K562 cells.

Authors:  Yan Dong; Xiaotong Gao; Yingxin Zhao; Mengying Wei; Lingmin Xu; Guodong Yang; Li Liu
Journal:  Mol Med Rep       Date:  2017-10-19       Impact factor: 2.952
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.