DICER1 Syndrome: DICER1 Mutations in Rare Cancers

Cancers
Jake C RobertsonJulia Thom Oxford

Abstract

DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types. Through mutations of the gene encoding the endoribonuclease, Dicer, DICER1 syndrome disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. Since the first description of DICER1 syndrome, case reports have documented novel germline mutations of the DICER1 gene in patients with cancers as well as second site mutations that alter the function of the Dicer protein expressed. Here, we present a review of mutations in the DICER1 gene, the respective protein sequence changes, and clinical manifestations of DICER1 syndrome. Directions for future research are discussed.

References

Apr 1, 1971·Proceedings of the National Academy of Sciences of the United States of America·A G Knudson
Dec 19, 2002·Thyroid : Official Journal of the American Thyroid Association·Nils KnudsenTorben Jørgensen
Mar 1, 1953·British Journal of Cancer·C O NORDLING
May 19, 2004·International Journal of Urology : Official Journal of the Japanese Urological Association·Patrick J BastianHans-Peter Bastian
May 3, 2005·Pathology Oncology Research : POR·Nebil BalIlhan Tuncer
Jun 30, 2006·Pediatric Blood & Cancer·John R PriestD Ashley Hill
Apr 24, 2007·Nature·Ellen M WelchH Lee Sweeney
Feb 22, 2008·The Biochemical Journal·Alexey A Matskevich, Karin Moelling
Jun 17, 2008·Urologic Oncology·Baris KuzgunbayFerhat Kilinc
Sep 11, 2008·Journal of Pediatric Oncology Nursing : Official Journal of the Association of Pediatric Oncology Nurses·Marian B Fosdal
Jun 27, 2009·Science·D Ashley HillPaul J Goodfellow
Nov 3, 2010·Journal of Medical Genetics·Amin BahubeshiWilliam D Foulkes
Jan 6, 2011·JAMA : the Journal of the American Medical Association·Thomas Rio FrioMarc Tischkowitz
Sep 2, 2011·Human Mutation·William D FoulkesJohn R Priest
Mar 27, 2012·Gynecologic Oncology·Cristina SigismondiGiorgia Mangili
May 31, 2012·Nature Communications·Giovanni BlandinoSabrina Strano
Jun 22, 2012·Journal of Medical Genetics·Nelly SabbaghianWilliam D Foulkes
Oct 30, 2012·Molecular Oncology·Martin D Jansson, Anders H Lund
Apr 27, 2013·The Journal of Pathology·M K WuW D Foulkes
Jun 4, 2013·Head & Neck·Ilaaf DarratMarci M Lesperance
Jul 23, 2013·Pediatric Blood & Cancer·Leanne de KockWilliam D Foulkes
Sep 26, 2013·European Journal of Human Genetics : EJHG·Nelly SabbaghianWilliam D Foulkes
Oct 24, 2013·Pediatric Blood & Cancer·Eva TomiakWilliam D Foulkes
Feb 1, 2014·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Leslie A DorosD Ashley Hill
Feb 12, 2014·Oncogenesis·M J MurrayM Tischkowitz
Mar 13, 2014·The Journal of Clinical Endocrinology and Metabolism·Leanne de KockWilliam D Foulkes
Mar 19, 2014·The Journal of Clinical Endocrinology and Metabolism·Shoshana R RathCatherine S Y Choong
Mar 29, 2014·Cancer Research·Masafumi SekiJunko Takita
May 16, 2014·The Journal of Clinical Endocrinology and Metabolism·Taninee SahakitrungruangVorasuk Shotelersuk
May 21, 2014·Acta Neuropathologica·Leanne de KockWilliam D Foulkes
Jul 16, 2014·Acta Neuropathologica·Leanne de KockWilliam D Foulkes
Apr 4, 2015·Human Pathology·Leanne de KockWilliam D Foulkes
Apr 7, 2015·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·E Ebo OostColin J R Stewart
Jun 3, 2015·The Journal of Pathology·Jiamin ChenDavid G Huntsman

❮ Previous
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Citations

Oct 4, 2020·International Journal of Molecular Sciences·Eleni I TheotokiEma Anastasiadou
Jun 30, 2019·Pathology Oncology Research : POR·Abbas Mohammadpour-GharehbaghSaeedeh Salimi
Dec 4, 2019·Expert Review of Endocrinology & Metabolism·Angeline Jia Jia ShenChristopher J Yates
Aug 4, 2020·Frontiers in Genetics·María Belén Ruiz-RosoAlberto Dávalos
Aug 12, 2020·The Journal of International Medical Research·Ya-Qiong CuiLian-Ping Zhao
May 29, 2020·Head and Neck Pathology·Balamurugan ThirunavukkarasuShiv Jee Prashant
Jan 7, 2021·Nucleic Acids Research·Paulina Galka-MarciniakPiotr Kozlowski
Dec 18, 2020·Frontiers in Oncology·Tiziana AnneseDomenico Ribatti
Feb 9, 2021·Frontiers in Oncology·Anna Maria CaroleoAngela Mastronuzzi
Jun 5, 2020·Ageing Research Reviews·Ekaterina ProshkinaAlexey Moskalev
Mar 18, 2021·Der Urologe. Ausg. A·Cordelia KasparChristian Rehme
Apr 14, 2021·Science Progress·Jingya ChenZhongqiu Wang
Aug 20, 2019·Current Medicinal Chemistry·Maria Grazia PerroneAntonio Scilimati
May 1, 2021·Journal of Clinical Medicine·Elisa De PaolisPaola Concolino
Apr 24, 2021·Frontiers in Genetics·Naaila TamkeenRomana Ishrat
Apr 20, 2021·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Sharlene C SeeNicoleta C Arva
May 15, 2021·Frontiers in Cell and Developmental Biology·Kim KobarJason N Berman
Jun 3, 2021·Journal of Clinical Medicine·Bailey A Martin-GiacalonePhilip J Lupo
Oct 3, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Iván A GonzálezLouis P Dehner
Nov 20, 2021·Paediatric Anaesthesia·Mathias JohansenThomas Engelhardt

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