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

PloS One
Víctor LorcaPilar Garre

Abstract

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.

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Citations

Jan 8, 2020·World Journal of Gastrointestinal Oncology·Víctor Lorca, Pilar Garre
Nov 17, 2020·Frontiers in Genetics·Malene DjursbyThomas van Overeem Hansen
May 1, 2020·Clinical and Translational Gastroenterology·Miren AlustizaRodrigo Jover

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Methods Mentioned

BETA
glycosylation
genotyping

Software Mentioned

MaxEnt
Exome Variant Server Aggregation Consortium
SIFT
MutationTaster
SureCall
Polyphen2

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