DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome

Histopathology
George PoulogiannisMark J Arends

Abstract

DNA mismatch repair (MMR) deficiency is one of the best understood forms of genetic instability in colorectal cancer (CRC), and is characterized by the loss of function of the MMR pathway. Failure to repair replication-associated errors due to a defective MMR system allows persistence of mismatch mutations all over the genome, but especially in regions of repetitive DNA known as microsatellites, giving rise to the phenomenon of microsatellite instability (MSI). A high frequency of instability at microsatellites (MSI-H) is the hallmark of the most common form of hereditary susceptibility to CRC, known as Lynch syndrome (LS) (previously known as hereditary non-polyposis colorectal cancer syndrome), but is also observed in approximately 15-20% of sporadic colonic cancers (and rarely in rectal cancers). Tumour analysis by both MMR protein immunohistochemistry and DNA testing for MSI is necessary to provide a comprehensive picture of molecular abnormality, for use in conjunction with family history data and other clinicopathological features, in order to distinguish LS from sporadic MMR-deficient CRC. Identification of the gene targets that become mutated in MMR-deficient tumours may explain, at least in part, some of the clinical, ...Continue Reading

References

May 28, 1992·International Journal of Cancer. Journal International Du Cancer·L KaklamanisW F Bodmer
Jan 15, 1969·International Journal of Cancer. Journal International Du Cancer·P J CookS A Fellingham
Nov 21, 1995·Proceedings of the National Academy of Sciences of the United States of America·I P Tomlinson, W F Bodmer
Nov 1, 1995·Gastroenterology·D C Chung, A K Rustgi
Jul 5, 1994·Proceedings of the National Academy of Sciences of the United States of America·N P BhattacharyyaM Meuth
May 24, 1994·Proceedings of the National Academy of Sciences of the United States of America·D C BicknellW F Bodmer
May 7, 1993·Science·L A AaltonenS R Hamilton
May 7, 1993·Science·S N ThibodeauD Schaid
Aug 20, 1996·Proceedings of the National Academy of Sciences of the United States of America·J HuangM G Dunlop
Dec 10, 1996·Proceedings of the National Academy of Sciences of the United States of America·I P TomlinsonW F Bodmer
Apr 10, 1997·Nature·C LengauerB Vogelstein
Jan 1, 1999·Nature·C LengauerB Vogelstein
Mar 31, 1999·Proceedings of the National Academy of Sciences of the United States of America·N J ToftA R Clarke
Apr 20, 1999·Molecular and Cellular Probes·C SutterM von Knebel Doeberitz
Jun 26, 1999·Gastroenterology·J M CarethersC R Boland
Aug 5, 1999·Journal of the National Cancer Institute·K C HallingS N Thibodeau
Sep 29, 1999·Genes, Chromosomes & Cancer·S SalahshorA Lindblom
Oct 26, 1999·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·M NilbertA Johnson
Jan 13, 2000·The New England Journal of Medicine·R GryfeS Gallinger
Jan 27, 2000·Cell·D Hanahan, R A Weinberg
Feb 3, 2000·Proceedings of the National Academy of Sciences of the United States of America·J L TsaoD Shibata
Apr 3, 2001·Nature Cell Biology·R FoddeH Clevers
Oct 18, 2001·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Y WatanabeK Noda
Jun 10, 2003·International Journal of Cancer. Journal International Du Cancer·Christian N ArnoldC Richard Boland
Sep 3, 2003·Nature Reviews. Cancer·Oliver M SieberIan P M Tomlinson
Oct 11, 2003·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Robyn Lynne WardNicholas John Hawkins
Jan 22, 2004·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Guoren DengYoung S Kim
Feb 19, 2004·Journal of the National Cancer Institute·Asad UmarSudhir Srivastava
Apr 6, 2004·Nature Genetics·Catherine M SuterRobyn L Ward
Sep 3, 2004·Journal of Medical Genetics·E DomingoS Schwartz

❮ Previous
Next ❯

Citations

Apr 25, 2012·Pediatric Surgery International·Georg Singer, Michael E Hoellwarth
Oct 19, 2012·Cancer Metastasis Reviews·Robert L Johnson, James C Fleet
May 28, 2011·Cancer Microenvironment : Official Journal of the International Cancer Microenvironment Society·Vanessa DeschoolmeesterMarc Peeters
Oct 8, 2013·Nucleic Acids Research·Antonia Furrer, Barbara van Loon
Oct 27, 2011·PloS One·Baiya LiQingzhong Kong
Jun 22, 2012·World Journal of Gastroenterology : WJG·Hiroyuki YamamotoYasuhisa Shinomura
Dec 5, 2012·ISRN Oncology·Josep J Centelles
Dec 7, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Madhuri HegdeUNKNOWN Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee
Dec 19, 2012·Proceedings of the National Academy of Sciences of the United States of America·Tim ArlowAlison Gammie
Mar 19, 2014·Chemical Society Reviews·Anton GranzhanMarie-Paule Teulade-Fichou
Oct 2, 2014·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Yin Ling WooMark Arends
Dec 21, 2010·Advances in Anatomic Pathology·Shefali Chopra, Mark Li-cheng Wu
Mar 28, 2013·Familial Cancer·Jurgen Seppen, Linda Bruzzone
Nov 10, 2015·Experimental and Molecular Pathology·J OlsenJ T Troelsen
Jan 24, 2016·Journal of Translational Medicine·Javier Martinez-Useros, Jesus Garcia-Foncillas
Jan 24, 2012·Trends in Genetics : TIG·H Christian Reinhardt, Björn Schumacher
Jun 16, 2011·The Surgeon : Journal of the Royal Colleges of Surgeons of Edinburgh and Ireland·Sanjay Harrison, Harrison Benziger
Mar 5, 2016·Cancer Metastasis Reviews·Aleš Ryška
Mar 14, 2016·Trends in Molecular Medicine·Stephen K H Li, Alberto Martin
Aug 6, 2013·Environmental and Molecular Mutagenesis·Parvathi CharyR Stephen Lloyd
Jun 10, 2010·International Journal of Cancer. Journal International Du Cancer·Marina LeiteRaquel Seruca
Jan 18, 2013·Wiley Interdisciplinary Reviews. Systems Biology and Medicine·Michal-Ruth SchweigerHans Lehrach
Jul 20, 2013·Histopathology·Dmitry José de Santana SarmentoEricka Janine Dantas da Silveira
Mar 6, 2016·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Takehito Shukuya, David P Carbone
Apr 4, 2016·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Markus MoehlerMichel Ducreux
Jul 26, 2013·Redox Report : Communications in Free Radical Research·In-Youb ChangSang Pil Yoon
Nov 7, 2015·Revista Española De Enfermedades Digestivas : Organo Oficial De La Sociedad Española De Patología Digestiva·Marta Borges-CanhaPedro Pimentel-Nunes
Feb 24, 2015·Archives of Toxicology·Hiroyuki Yamamoto, Kohzoh Imai
Apr 29, 2014·Molecular Cell·Thergiory IrrazábalDana J Philpott
Jun 22, 2016·Virchows Archiv : an International Journal of Pathology·Mike F MüllerMark J Arends
Nov 12, 2016·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·L GhanipourH Birgisson
Feb 15, 2017·Journal of Pathology and Translational Medicine·Jiyoon JungYang-Seok Chae

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists
Yevgeniy Karamurzin, Joanne K L Rutgers
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
S PopatR S Houlston
© 2021 Meta ULC. All rights reserved