Literature DB >> 18286687

Frequent mutations of the CA simple sequence repeat in intron 1 of EGFR in mismatch repair-deficient colorectal cancers.

Marie-Pierre Buisine1, Agnes Wacrenier, Christophe Mariette, Emmanuelle Leteurtre, Fabienne Escande, Sana Aissi, Amandine Ketele, Annette Leclercq, Nicole Porchet, Thecla Lesuffleur.   

Abstract

AIM: To investigate the polymorphic simple sequence repeat in intron 1 of the epidermal growth factor receptor gene (EGFR) (CA-SSR I), which is known to affect the efficiency of gene transcription as a putative target of the mismatch repair (MMR) machinery in colorectal tumors.
METHODS: The CA-SSR I genotype was analyzed in a total of 86 primary colorectal tumors, selected upon their microsatellite instability (MSI) status [42 with high frequency MSI (MSI-H) and 44 microsatellite stable (MSS)] and their respective normal tissue. The effect of the CA-SSR I genotype on the expression of the EGFR gene was evaluated in 18 specimens using quantitative real-time reverse transcription PCR and immunohistochemistry.
RESULTS: Mutations in CA-SSR I were detected in 86% (36 of 42) of MSI-H colorectal tumors and 0% (0 of 44) of MSS tumors, indicating the EGFR gene as a novel putative specific target of the defective MMR system (P < 0.001). Impaired expression of EGFR was detected in most of the colorectal tumors analyzed [6/12 (50%) at the mRNA level and 15/18 (83%) at the peptide level]. However, no association was apparent between EGFR expression and CA-SSR I status in tumors or normal tissues.
CONCLUSION: Our results suggest that CA-SSR I sequence does not contribute to the regulation of EGFR transcription in colon, and should thus not be considered as a promising predictive marker for response to EGFR inhibitors in patients with colorectal cancer.

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Year:  2008        PMID: 18286687      PMCID: PMC2689408          DOI: 10.3748/wjg.14.1053

Source DB:  PubMed          Journal:  World J Gastroenterol        ISSN: 1007-9327            Impact factor:   5.742


  25 in total

1.  Tumors with microsatellite instability: many mutations, targets and paradoxes.

Authors:  Manuel Perucho
Journal:  Oncogene       Date:  2003-04-17       Impact factor: 9.867

2.  Distribution of epidermal growth factor receptor protein correlates with gain in chromosome 7 revealed by comparative genomic hybridization after microdissection in glioblastoma multiforme.

Authors:  B F Romeike; V Jung; W Feiden; J R Moringlane; K D Zang; S M Urbschat
Journal:  Pathol Res Pract       Date:  2001       Impact factor: 3.250

Review 3.  EGFR and cancer prognosis.

Authors:  R I Nicholson; J M Gee; M E Harper
Journal:  Eur J Cancer       Date:  2001-09       Impact factor: 9.162

Review 4.  Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability.

Authors:  Alex Duval; Richard Hamelin
Journal:  Cancer Res       Date:  2002-05-01       Impact factor: 12.701

Review 5.  Genetic pathways in colorectal and other cancers.

Authors:  M Ilyas; J Straub; I P Tomlinson; W F Bodmer
Journal:  Eur J Cancer       Date:  1999-12       Impact factor: 9.162

6.  Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR.

Authors:  Nirosha Suraweera; Alex Duval; Maryline Reperant; Christelle Vaury; Daniela Furlan; Karen Leroy; Raquel Seruca; Barry Iacopetta; Richard Hamelin
Journal:  Gastroenterology       Date:  2002-12       Impact factor: 22.682

Review 7.  Modulation of EGFR gene transcription by secondary structures, a polymorphic repetitive sequence and mutations--a link between genetics and epigenetics.

Authors:  F Gebhardt; H Bürger; B Brandt
Journal:  Histol Histopathol       Date:  2000-07       Impact factor: 2.303

8.  Distinct amplification of an untranslated regulatory sequence in the egfr gene contributes to early steps in breast cancer development.

Authors:  Nicola Tidow; Almuth Boecker; Hartmut Schmidt; Konstantin Agelopoulos; Werner Boecker; Horst Buerger; Burkhard Brandt
Journal:  Cancer Res       Date:  2003-03-15       Impact factor: 12.701

9.  Evaluation of the epidermal growth factor receptor (EGFR) in colorectal tumours and lymph node metastases.

Authors:  J A McKay; L J Murray; S Curran; V G Ross; C Clark; G I Murray; J Cassidy; H L McLeod
Journal:  Eur J Cancer       Date:  2002-11       Impact factor: 9.162

10.  Interethnic difference in the allelic distribution of human epidermal growth factor receptor intron 1 polymorphism.

Authors:  Wanqing Liu; Federico Innocenti; Peixian Chen; Soma Das; Edwin H Cook; Mark J Ratain
Journal:  Clin Cancer Res       Date:  2003-03       Impact factor: 12.531

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  7 in total

Review 1.  DNA damage response pathways and cell cycle checkpoints in colorectal cancer: current concepts and future perspectives for targeted treatment.

Authors:  S Solier; Y-W Zhang; A Ballestrero; Y Pommier; G Zoppoli
Journal:  Curr Cancer Drug Targets       Date:  2012-05       Impact factor: 3.428

2.  Epidermal growth factor receptor (EGFR) intron 1 polymorphism and clinical outcome in pancreatic adenocarcinoma.

Authors:  Andrey Frolov; J Spencer Liles; Andrew V Kossenkov; Ching-Wei D Tzeng; Nirag Jhala; Peter Kulesza; Shyam Varadarajulu; Mohamad Eloubeidi; Martin J Heslin; J Pablo Arnoletti
Journal:  Am J Surg       Date:  2010-04-21       Impact factor: 2.565

3.  An A13 repeat within the 3'-untranslated region of epidermal growth factor receptor (EGFR) is frequently mutated in microsatellite instability colon cancers and is associated with increased EGFR expression.

Authors:  Ziqiang Yuan; Joongho Shin; Andrew Wilson; Sanjay Goel; Yi-He Ling; Naseem Ahmed; Higinio Dopeso; Minaxi Jhawer; Shannon Nasser; Cristina Montagna; Kenneth Fordyce; Leonard H Augenlicht; Lauri A Aaltonen; Diego Arango; Thomas K Weber; John M Mariadason
Journal:  Cancer Res       Date:  2009-09-29       Impact factor: 12.701

4.  CA-SSR1 Polymorphism in Intron 1 of the EGFR Gene in Patients with Malignant Tumors Who Develop Acneiform Rash Associated with the Use of Cetuximab.

Authors:  Tomasz Jarząbek; Monika Rucińska; Wojciech Rogowski; Marzena Lewandowska; Jerzy Tujakowski; Maja Habib; Anna Kowalczyk; Agnieszka Byszek; Rafał Dziadziuszko; Sergiusz Nawrocki
Journal:  Mol Diagn Ther       Date:  2015-04       Impact factor: 4.074

5.  Epidermal growth factor receptor intron 1 polymorphism and microsatellite instability in sporadic colorectal cancer.

Authors:  Sonja Marinović; Kristina Vuković; Anita Škrtić; Mirko Poljak; Sara Petek; Lara Petek; Sanja Kapitanović
Journal:  Oncol Lett       Date:  2020-12-18       Impact factor: 2.967

6.  Epidermal growth factor receptor in pancreatic cancer.

Authors:  Melissa Oliveira-Cunha; William G Newman; Ajith K Siriwardena
Journal:  Cancers (Basel)       Date:  2011-03-24       Impact factor: 6.639

7.  Epidermal growth factor receptor gene polymorphisms are associated with prognostic features of breast cancer.

Authors:  Marcelo Sobral Leite; Letícia Carlos Giacomin; Diogo Nascimento Piranda; Juliana Simões Festa-Vasconcellos; Vanessa Indio-do-Brasil; Sérgio Koifman; Rodrigo Soares de Moura-Neto; Marcelo Alex de Carvalho; Rosane Vianna-Jorge
Journal:  BMC Cancer       Date:  2014-03-14       Impact factor: 4.430

  7 in total

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