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

2017; Public Library of Science; Volume: 12; Issue: 11 Linguagem: Inglês

10.1371/journal.pone.0187312

1932-6203

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

Helicobacter pylori-related gastroenterology studies

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 hypothesized that GALNT12 could be involved in adenoma predisposition and consequently, in hereditary polyposis CRC syndromes. For that purpose, we have screened the GALNT12 gene in germline DNA from 183 unrelated attenuated polyposis patients. c.907G>A, p.(D303N) was detected in 4 cases (MAF = 1.1%) and no other candidate variants were found. After segregation studies, LOH analyses, glycosylation pattern tests and case-control studies, our results did not support the role of c.907G>A, p.(D303N) as a high-penetrance risk allele for polyposis CRC.