Abstract
In up to 30% of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH-associated polyposis, and POLE or POLD1, causing Polymerase-Proofreading-associated polyposis can be identified, although a hereditary etiology is likely. To uncover new causative genes, exome sequencing was performed using DNA from leukocytes and a total of 12 colorectal adenomas from seven unrelated patients with unexplained sporadic adenomatous polyposis. For data analysis and variant filtering, an established bioinformatics pipeline including in-house tools was applied. Variants were filtered for rare truncating point mutations and copy-number variants assuming a dominant, recessive, or tumor suppressor model of inheritance. Subsequently, targeted sequence analysis of the most promising candidate genes was performed in a validation cohort of 191 unrelated patients. All relevant variants were validated by Sanger sequencing. The analysis of exome sequencing data resulted in the identification of rare loss-of-function germline mutations in three promising candidate genes (DSC2, PIEZO1, ZSWIM7). In the validation cohort, further variants predicted to be pathoge...Continue Reading
References
Feb 4, 2005·Journal of Medical Genetics·S AretzW Friedl
Feb 4, 2006·The American Journal of Gastroenterology·Polymnia Galiatsatos, William D Foulkes
May 20, 2006·The EMBO Journal·Victoria MartínPaul Russell
May 9, 2007·Human Mutation·Stefan AretzWaltraut Friedl
Jul 3, 2007·Gut·F J HesC M J Tops
Sep 30, 2008·Molecular Cancer Research : MCR·Shinsuke FunakoshiJohn P Lynch
May 15, 2009·PloS One·Michal R SchweigerHans Lehrach
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Jul 21, 2010·Genome Research·Aaron McKennaMark A DePristo
Oct 27, 2010·PLoS Genetics·Ni HuangMatthew E Hurles
Feb 18, 2011·Molecular Biology of the Cell·Keli KolegraffAsma Nusrat
Jan 20, 2012·European Journal of Human Genetics : EJHG·Christian GilissenJoris A Veltman
Mar 21, 2012·Human Mutation·Isabel SpierStefan Aretz
Mar 23, 2012·International Journal of Colorectal Disease·Thomas KnöselIver Petersen
Apr 17, 2012·Nature·George T EisenhofferJody Rosenblatt
Jul 14, 2012·PloS One·Brian J McHughTariq Sethi
Aug 1, 2012·PloS One·Quirinus J M VoorhamGerrit A Meijer
Dec 25, 2012·Nature Genetics·Claire PallesIan Tomlinson
Mar 20, 2013·Mutation Research·Filomena MazzeiMargherita Bignami
May 23, 2013·Nature Communications·Juliette AlbuissonArdem Patapoutian
Aug 31, 2013·PLoS Genetics·Slavé PetrovskiDavid B Goldstein
Apr 25, 2014·Nature·D G MacArthurC Gunter
Aug 15, 2014·Nature·Jing LiDavid J Beech
Sep 16, 2014·International Journal of Cancer. Journal International Du Cancer·Sukanya HorpaopanStefan Aretz
Dec 23, 2014·International Journal of Cancer. Journal International Du Cancer·Isabel SpierStefan Aretz
May 6, 2015·Nature Genetics·Robbert D A WerenNicoline Hoogerbrugge
Nov 29, 2015·Journal of Medical Genetics·Isabel SpierStefan Aretz
Citations
Sep 4, 2016·FEMS Yeast Research·Julieta Martino, Kara A Bernstein
Oct 17, 2016·Trends in Biochemical Sciences·Jason WuJörg Grandl
Oct 8, 2016·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Laura Valle
Feb 16, 2017·Nature·S A GudipatyJ Rosenblatt
Mar 24, 2017·Hereditary Cancer in Clinical Practice·Bente A Talseth-Palmer
Oct 27, 2017·Nucleic Acids Research·Shicheng ZhangJianping Ding
Oct 5, 2017·Nature Reviews. Molecular Cell Biology·Swetha E MurthyArdem Patapoutian
Feb 3, 2018·American Journal of Respiratory and Critical Care Medicine·Kristin M BurkartR Graham Barr
Dec 16, 2018·Genes·Meghan R Sullivan, Kara A Bernstein
Jul 10, 2019·Scientific Reports·Víctor LorcaPilar Garre
Oct 31, 2019·Nucleic Acids Research·Julieta MartinoKara A Bernstein
Aug 23, 2017·Proceedings of the National Academy of Sciences of the United States of America·Nicolai B LarsenHocine W Mankouri
Jul 20, 2019·International Journal of Oncology·Yu HanZhanfeng Jia
Dec 14, 2018·Molecular Genetics & Genomic Medicine·Dan WangZhao Zhang
Aug 10, 2019·Communications Biology·Kyle L EllefsenMedha M Pathak
Aug 28, 2019·Annual Review of Pharmacology and Toxicology·Bailong Xiao
May 24, 2017·Scientific Reports·Nikhat KhanRajiv Sarin
Nov 22, 2018·Oncotarget·Malak Abedalthagafi
Jun 30, 2018·Genes·Giovanna D'EliaMaria Teresa Vietri
Nov 25, 2020·International Journal of Molecular Sciences·Iris B A W Te PaskeRicharda M de Voer
Jan 11, 2021·Cell & Bioscience·Xiang-Zhi FangYou Shang
Jan 12, 2020·Communications Biology·Kyle L EllefsenMedha M Pathak
Mar 14, 2021·Human Reproduction·Yang LiQinghua Shi
May 19, 2021·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Jia-Lin Yu, Hai-Yang Liao
Jun 29, 2021·The International Journal of Biochemistry & Cell Biology·Kuen Kuen LamPeh Yean Cheah
Sep 20, 2020·Biophysical Journal·Amanda BuyanBen Corry