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.
References
Jan 31, 2002·Nature Genetics·Nada Al-TassanJeremy P Cheadle
Jun 7, 2002·The New England Journal of Medicine·Thomas F ImperialeDavid F Ransohoff
Jan 18, 2006·Nature Genetics·Andrew D SkolMichael Boehnke
Jun 3, 2006·EMBO Reports·Inka Brockhausen
Jun 19, 2008·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Cheryl J PendergrassFrancis M Giardiello
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetChristophe Béroud
Jun 30, 2009·Nature Protocols·Prateek KumarPauline C Ng
Jul 21, 2009·Proceedings of the National Academy of Sciences of the United States of America·Kishore GudaSanford D Markowitz
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Mar 31, 2012·Human Mutation·Erica ClarkeMichael O Woods
Oct 30, 2012·American Journal of Human Genetics·Paul L AuerYun Li
Dec 25, 2012·Nature Genetics·Claire PallesIan Tomlinson
Oct 12, 2013·Human Mutation·Nuria SeguíLaura Valle
Apr 1, 2014·Nature Methods·Jana Marie SchwarzDominik Seelow
May 6, 2015·Nature Genetics·Robbert D A WerenNicoline Hoogerbrugge
Oct 4, 2015·Nature·UNKNOWN 1000 Genomes Project ConsortiumGonçalo R Abecasis
Aug 2, 2016·American Journal of Human Genetics·Ronja AdamStefan Aretz
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
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
Oct 12, 2020·European Journal of Medical Genetics·Marion DhoogeUNKNOWN GGC-Unicancer Group
Jul 16, 2021·Frontiers in Oncology·Francesco SchettiniDaniele Generali