Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer.

International Journal of Cancer. Journal International Du Cancer
Beatriz Paumard-HernándezJavier Benitez

Abstract

Testicular germ cell tumors (TGCTs) are a clinically and pathologically heterogeneous disease, and little is known of its genetic basis. Only low susceptibility risk loci have been identified for both sporadic and familial cases. Therefore, we tried to identify new susceptibility genes responsible for familial testicular cancer that may contribute to increasing our knowledge about the genetic basis of the disease. Nineteen Spanish families with at least two affected individuals with TGCT were selected. WES was performed on those individuals using an Illumina Hiseq2000 sequencing platform. Data were analyzed under a monogenic and polygenic model of inheritance, and candidate variants were evaluated in a case-control association study performed on 391 Spanish sporadic cases and 1,170 healthy Spanish controls. Results were replicated in a second series consisting of 101 TGCTs from the Cancer Genome Atlas (TGCA) and 27,000 controls from the Exome Aggregation Consortium (ExAC) database. Logistic regression was carried out to analyze the association strength (risk) of candidate variants obtained among cases and controls in different populations. Despite the sample size, we detected a significant earlier age of onset in familial TGCT ...Continue Reading

References

Apr 30, 2002·International Journal of Cancer. Journal International Du Cancer·Kamila CzeneKari Hemminki
Feb 9, 2005·Nucleic Acids Research·V A SimossisJ Heringa
Feb 10, 2006·International Journal of Andrology·Kristian AlmstrupEwa Rajpert-De Meyts
Jun 2, 2009·Nature Genetics·Elizabeth A RapleyMichael R Stratton
Jun 2, 2009·Nature Genetics·Peter A KanetskyKatherine L Nathanson
Oct 29, 2009·Proceedings of the National Academy of Sciences of the United States of America·Murim ChoiRichard P Lifton
Jun 15, 2010·Nature Genetics·Clare TurnbullUNKNOWN UK Testicular Cancer Collaboration
May 10, 2011·Human Molecular Genetics·Peter A KanetskyKatherine L Nathanson
Oct 26, 2012·The Journal of Biological Chemistry·Justin L SparksPeter M Burgers
Feb 7, 2013·European Journal of Human Genetics : EJHG·Iuliana Ionita-LazaXihong Lin
May 15, 2013·Nature Genetics·Charles C ChungKatherine L Nathanson
Jun 19, 2013·Journal of Medical Genetics·Luis J Leandro-GarcíaCristina Rodríguez-Antona
Dec 29, 2013·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Charlotte Le CornetFreddie Bray
Jan 24, 2014·PLoS Computational Biology·Jaroslav BendlJiri Damborsky
Aug 13, 2015·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Anand PathakMark H Greene
Oct 28, 2015·Nature Communications·Kevin LitchfieldClare Turnbull
May 5, 2016·Nucleic Acids Research·Maxim V KuleshovAvi Ma'ayan
Jun 15, 2016·Nature Reviews. Urology·Kevin LitchfieldClare Turnbull

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Citations

Jan 24, 2019·Cellular and Molecular Life Sciences : CMLS·Aalia BatoolYi-Xun Liu
Sep 11, 2019·Cancers·Violeta Bakardjieva-MihaylovaLudmila Boublikova
May 30, 2020·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Melissa RotunnoElizabeth M Gillanders

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