Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.

doi:10.1371/journal.pone.0187312

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Article

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.

PloS one - 1 Jan 2017

Lorca Víctor, Rueda Daniel, Martín-Morales Lorena, Poves Carmen, Fernández-Aceñero María Jesús, Ruiz-Ponte Clara, Llovet Patricia, Marrupe David, García-Barberán Vanesa, García-Paredes Beatriz, Pérez-Segura Pedro, de la Hoya Miguel, Díaz-Rubio Eduardo, Caldés Trinidad, Garre Pilar

Abstract excerpt

The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent it is implicated in familial CRC susceptibility. Partially inactivating variant, NM_024642.4:c.907G>A, p.(D303N), has been previously detected in familial CRC and proposed as the causative risk allele. Since phenotypes of the described carrier families showed not only CRC but also a polyp history, we...

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PMID: 29095867
DOI: 10.1371/journal.pone.0187312
PMCID: PMC5667827

Genes

GALNT12
MAF

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