Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

Jennifer A InraEwout W SteyerbergShilpa GroverAshley McFarlandSapna SyngalFay Kastrinos

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

Non-Caucasians undergo genetic testing at more advanced stages of polyposis and/or are younger at CRC/polyp diagnosis. Restricted MUTYH analysis may miss significant numbers of biallelic carriers, particularly in non-Caucasians.

Keyphrases

intellectual disability
data analysis