An intronic variant of the TGFBR1 gene is associated with carcinomas of the kidney and bladder

International Journal of Cancer. Journal International Du Cancer
Taiping ChenJulia H Carter

Abstract

TGF-beta signaling is frequently perturbed in many human cancers, including renal cell carcinomas (RCCs) and transitional cell carcinomas (TCCs) of the bladder. Genetic alterations of the TGF-beta type 1 receptor (TGFBR1) may contribute to these perturbations. We therefore examined variations in the TGFBR1 gene by PCR, SSCP and RFLP in carcinomas of the urinary system and in tissues from noncancer, age-matched controls. A G-->A variant 24 bp downstream of the exon/intron 7 boundary of the TGFBR1 gene (Int7G24A) was evident in patients with RCC (46.5%, n = 86) and bladder and upper urinary tract TCC (49.2%, n = 65) significantly more frequently than in age-matched controls (28.3%, n = 113, p < 0.002 by chi2 test). Moreover, 8 homozygous variant carriers were found in the cancer groups, whereas not a single homozygous variant carrier was found in the control group. The Int7G24A allele (both heterozygous G/A and homozygous A/A carriers) was associated with increased RCC incidence (OR = 2.20, 95% CI 1.22-3.96) and TCC incidence (OR = 2.45, 95% CI 1.89-3.16). One somatic mutation of serine to phenylalanine at codon 57 of the TGFBR1 gene was confirmed in an upper urinary tract TCC. In conclusion, the Int7G24A variant in the TGFBR1 ge...Continue Reading

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Citations

Mar 8, 2011·Archives of Toxicology·Klaus GolkaJan G Hengstler
Jun 16, 2005·Lung Cancer : Journal of the International Association for the Study of Lung Cancer·Hong-Tao Zhang
Oct 7, 2008·The Cancer Journal·Wong-Ho Chow, Susan S Devesa
Aug 20, 2009·Cancer Research·Zhe LeiHong-Tao Zhang
Jan 30, 2010·International Journal of Otolaryngology·Teresita Muñoz-AntoniaAdriana Báez
Feb 22, 2012·World Journal of Gastrointestinal Oncology·Laura Valle
Aug 23, 2011·Molecular Biology Reports·Xueli ZhangMing Zhang
Dec 18, 2019·Cells·Joanna BoguslawskaAgnieszka Piekielko-Witkowska
Jan 24, 2006·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Taiping ChenJulia H Carter
Feb 23, 2007·Molecular Cancer Research : MCR·Jennifer D LewisRobert K Bright

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