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

[en] 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.

Disciplines :

Oncology
Genetics & genetic processes

Author, co-author :

Lorca, Victor; Hospital Clínico San Carlos > Medical Oncology > Molecular Oncology Laboratory

Rueda, Daniel; Hospital 12 de Octubre > Biochemistry > Hereditary Cancer Laboratory

Martin Morales, Lorena ; Université de Liège - ULiège > GIGA Stem Cells - Cancer Signaling

Poves, Carmen; Hospital Clínico San Carlos > Digestive System

Fernandez-Aceñero, Maria Jesus; Hospital Clínico San Carlos > Anatomical Pathology

Ruiz-Ponte, Clara; Fundación Pública Galega de Medicina Xenómica > Grupo de Medicina Xenómica-USC

Llovet, Patricia; Hospital Clínico San Carlos > Medical Oncology > Molecular Oncology Laboratory

Marrupe, David; Hospital de Móstoles > Medical Oncology

Garcia-Barberan, Vanesa; Hospital Clínico San Carlos > Medical Oncology > Molecular Oncology Laboratory

Garcia-Paredes, Beatriz; Hospital Clínico San Carlos > Medical Oncology

More authors (5 more)

Language :

English

Title :

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

Publication date :

November 2017

Journal title :

PLoS ONE

eISSN :

1932-6203

Publisher :

Public Library of Science, United States - California

Volume :

Issue :

Pages :

e0187312

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 27 May 2021

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