Article
Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2020
Clark Dana Farengo, Michalski Scott T, Tondon Rashmi, Nehoray Bita, Ebrahimzadeh Jessica, Hughes Sarah Kate, Soper Emily R, Domchek Susan M, Rustgi Anil K, Pineda-Alvarez Daniel, Anderson Michael J, Katona Bryson W
Abstract excerpt
PURPOSE: CTNNA1 is a potential diffuse gastric cancer risk gene, however CTNNA1 testing on multigene panel testing (MGPT) remains unstudied. METHODS: De-identified data from 151,425 individuals who underwent CTNNA1 testing at a commercial laboratory between October 2015 and July 2019 were reviewed. Tissue α-E-catenin immunohistochemistry was performed on CTNNA1 c.1351C>T (p.Arg451*) carriers. RESULTS: Fifty-two...
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