Conference Proceedings

Dual role of TGFBR1 as a modifier of colorectal cancer risk.

Michael J Pennison, Qinghua Zeng, Phillip J Buckhaults, Virginia G Kaklamani, Noralane M Lindor, John L Hopper, Loic Le Marchand, Steven Gallinger, Polly A Newcomb, Robert W Haile, John A Baron, Daniel O Stram, Hong-Tao Zhang, Upender Manne, Jeffrey C Edberg, Robert P Kimberly, Jianfeng Xu, Kui Zhang, Nengjun Yi, Boris Pasche

JOURNAL OF CLINICAL ONCOLOGY | AMER SOC CLINICAL ONCOLOGY | Published : 2015

Abstract

600 Background: Experimental and clinical evidence suggests that constitutively decreased Transforming Growth Factor Beta type I receptor (TGFBR1) signaling predisposes to colorectal cancer (CRC) development. However, associations between TGFBR1 variants and CRC risk in case-control studies have been inconsistent. Methods: We utilized 1,043 CRC cases and their 1,627 unaffected sibling controls obtained from the Colon Cancer Family Registry (C-CFR). Individuals were genotyped for twelve TGFBR1 haplotype tagging SNPs. SNPs associated with CRC risk were validated in 261 CRC cases and 531 controls of African American ancestry and 990 CRC cases and 3,427 controls of Han Chinese ancestry. Validat..

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