SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.

ABSTRACT:

Background

Papillary thyroid carcinoma (PTC) shows high heritability, yet efforts to find predisposing genes have been largely negative.

Objectives

The objective of this study was to identify susceptibility genes for PTC.

Methods

A genome-wide linkage analysis was performed in 38 families. Targeted association study and screening were performed in 2 large cohorts of PTC patients and controls. Candidate DNA variants were tested in functional studies.

Results

Linkage analysis and association studies identified the Slit-Robo Rho GTPase activating protein 1 gene (SRGAP1) in the linkage peak as a candidate gene. Two missense variants, Q149H and A275T, localized in the Fes/CIP4 homology domain segregated with the disease in 1 family each. One missense variant, R617C,

SUBMITTER: He H 

PROVIDER: S-EPMC3644596 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature