Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan.

Authors :: Khaliq, Shagufta
Ajaz, Sadia
Firasat, Sadaf
Shahid, Saba
Hasan, Asad Shahzad
Sultan, Gauhar
Mohsin, Rehan
Hashmi, Altaf
Mubarak, Muhammed
Naqvi, Syed Ali Anwar
Rizvi, Syed Adib-ul-Hasan
Mehdi, Syed Qasim
Abid, Aiysha
Source :: Mutation Research: Fundamental & Molecular Mechanisms of Mutagenesis. May2014, Vol. 763-764, p45-52. 8p.
Publication Year :: 2014
Abstract: Highlights: [•] Renal cell carcinoma (RCC) is the most frequent form of kidney cancer in adults. [•] We report somatic mutations and promoter hypermethylation in 300 RCC patients. [•] Our data showed molecular alterations in the VHL gene in 163 (54%) RCC patients. [•] Somatic mutations were found in only 29% patients as compared to 40–70% worldwide. [•] We found a low frequency of somatic mutations and high frequency of hypermethylation. [ABSTRACT FROM AUTHOR]

Subjects :: *RENAL cell carcinoma
*VON Hippel-Lindau disease
*COHORT analysis
*PAKISTANIS
*CANCER in adolescence
*GENETIC mutation
*METHYLATION
*PATIENTS
*DISEASES

Language :: English
ISSN :: 00275107
Volume :: 763-764
Database :: Academic Search Index
Journal :: Mutation Research: Fundamental & Molecular Mechanisms of Mutagenesis
Publication Type :: Academic Journal
Accession number :: 96028887
Full Text :: https://doi.org/10.1016/j.mrfmmm.2014.03.008

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