Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Human Genetics
Katharina Wimmer, Julia Etzler

Abstract

Heterozygous mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome or hereditary non-polyposis colorectal cancer. During the past 10 years, some 35 reports have delineated the phenotype of patients with biallelic inheritance of mutations in one of these MMR genes. The patients suffer from a condition that is characterised by the development of childhood cancers, mainly haematological malignancies and/or brain tumours, as well as early-onset colorectal cancers. Almost all patients also show signs reminiscent of neurofibromatosis type 1, mainly café au lait spots. Alluding to the underlying mechanism, this condition may be termed as "constitutional mismatch repair-deficiency (CMMR-D) syndrome". To give an overview of the current knowledge and its implications of this recessively inherited cancer syndrome we summarise here the genetic, clinical and pathological findings of the so far 78 reported patients of 46 families suffering from this syndrome.

References

Mar 30, 1995·The New England Journal of Medicine·S R HamiltonB Tetu
May 7, 1993·Science·L A AaltonenS R Hamilton
Apr 1, 1996·Hematology/oncology Clinics of North America·M J Thirman, R A Larson
Nov 5, 1997·Nature Genetics·P HackmanA Lindblom
Jun 17, 1998·Proceedings of the National Academy of Sciences of the United States of America·J G HermanS B Baylin
Oct 20, 1998·The American Journal of Pathology·S Y LeungS T Yuen
May 1, 1999·Journal of Neurosurgery·M D TaylorJ G Cairncross
Dec 22, 1999·Human Genetics·T LiuA Lindblom
Mar 21, 2001·Human Molecular Genetics·P Peltomäki
Jan 29, 2003·American Journal of Human Genetics·Gaëlle BougeardThierry Frébourg
Mar 7, 2003·The New England Journal of Medicine·Henry T Lynch, Albert de la Chapelle
Mar 15, 2003·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Päivi Peltomäki
Oct 24, 2003·Familial Cancer·J D TrimbathF M Giardiello
Apr 13, 2004·American Journal of Human Genetics·Michel De VosDavid T Bonthron
Jul 29, 2004·DNA Repair·Lovorka StojicJosef Jiricny
Feb 4, 2005·Journal of Medical Genetics·S ReidUNKNOWN Familial Wilms Tumour Collaboration
May 12, 2005·Gastroenterology·Kaspar TruningerGiancarlo Marra
Jul 8, 2005·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Madhuri R HegdeC Sue Richards
Sep 8, 2005·The American Journal of Gastroenterology·Marco AgostiniAlessandra Viel
Dec 24, 2005·American Journal of Medical Genetics. Part a·Annegret MüllerSusanne Stemmler
Mar 2, 2006·Journal of the National Cancer Institute·Michel De VosEamonn Sheridan
Apr 14, 2006·Nature Reviews. Molecular Cell Biology·Josef Jiricny
Apr 19, 2006·Human Mutation·Mark ClendenningAlbert de la Chapelle
Jul 29, 2006·Cell·Josef Jiricny
Jul 29, 2006·Cell·Farid A KadyrovPaul Modrich
Sep 28, 2006·JAMA : the Journal of the American Medical Association·Noralane M LindorNancy Press
Jan 27, 2007·Human Mutation·Bruce E HaywardDavid T Bonthron
Jan 30, 2007·Nature Clinical Practice. Oncology·Richard H ScottNazneen Rahman
Mar 1, 2007·Journal of Medical Genetics·H F A VasenJ Wijnen
Apr 19, 2007·Cancer·Jan-Werner PoleyUNKNOWN Rotterdam Initiative on Gastrointestinal Hereditary Tumors
Jun 2, 2007·Clinical Genetics·K E A FeltonS E Andrew
Jun 2, 2007·Clinical Genetics·K E A FeltonS E Andrew

❮ Previous
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Citations

Feb 12, 2011·International Journal of Colorectal Disease·Sana Aissi-Ben MoussaMarie-Pierre Buisine
Dec 30, 2011·Current Neurology and Neuroscience Reports·Anita VillaniUri Tabori
Jul 30, 2009·European Journal of Human Genetics : EJHG·Sabrina TitzeAnja Harder
Feb 24, 2010·Nature Reviews. Clinical Oncology·Madeleine HewishAlan Ashworth
Nov 14, 2008·The New England Journal of Medicine·William D Foulkes
Sep 18, 2008·Proceedings of the National Academy of Sciences of the United States of America·Salahuddin AhmedAlisa E Koch
Aug 21, 2013·The Journal of Experimental Medicine·Noel F C C de MirandaQiang Pan-Hammarström
Aug 26, 2011·Human Molecular Genetics·Stacy A WilliamsGary M Kupfer
Mar 26, 2011·Journal of the National Cancer Institute·James V TricoliBrandon Hayes-Lattin
Nov 26, 2009·Cancer Research·Henri J van de VrugtMarkus Grompe
Oct 25, 2013·Genome Integrity·Kaisa R LuotoRobert G Bristow
May 6, 2010·Haematologica·Katharina Wimmer, Christian P Kratz
Oct 6, 2011·Archives of Pathology & Laboratory Medicine·Katherine B Geiersbach, Wade S Samowitz
Oct 15, 2013·Journal of Genetic Counseling·Zandrè BruwerRajkumar Ramesar
Jan 21, 2014·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Doua BakryUri Tabori
Jun 5, 2014·The New England Journal of Medicine·Zornitza StarkAlison H Trainer
Apr 17, 2014·Journal of Medical Genetics·Katharina WimmerUNKNOWN EU-Consortium Care for CMMRD (C4CMMRD)
Jan 16, 2013·Case Reports in Oncological Medicine·Vallejo DoraOlaya Natalia
Nov 28, 2015·Annales de dermatologie et de vénéréologie·A-J JungD Lipsker
Jul 1, 2010·Expert Opinion on Medical Diagnostics·Meena Upadhyaya
Oct 27, 2010·The British Journal of Dermatology·A KaralisG W M Millington
Dec 29, 2015·DNA Repair·Kyeryoung LeeWinfried Edelmann
Jan 31, 2016·European Journal of Medical Genetics·Marjolijn C J JongmansNicoline Hoogerbrugge
Sep 28, 2013·Gastroenterology·Carol DurnoSteven Gallinger
Jan 9, 2016·European Journal of Medical Genetics·Tim Ripperger, Brigitte Schlegelberger
May 30, 2012·Seminars in Pediatric Neurology·Asher M Marks, Roger J Packer
Apr 10, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·McKinsey L GoodenbergerNoralane M Lindor
Mar 8, 2011·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Johanna C HerkertRolf H Sijmons
Oct 5, 2010·Pediatric Clinics of North America·Kara N Shah
Feb 20, 2010·Clinical Immunology : the Official Journal of the Clinical Immunology Society·S KrackerA Durandy
Aug 10, 2015·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Fonnet E Bleeker
Mar 14, 2009·Pediatric Blood & Cancer·Sumita RoyStephen B Gruber
Sep 4, 2009·Pediatric Pulmonology·Christina ThomouEleni G Tzortzaki
Aug 15, 2015·Journal of Pediatric Hematology/oncology·Ronit ElhasidUri Tabori

❮ Previous
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