The relationship between microsatellite instability and PTEN gene mutations in endometrial cancer

International Journal of Cancer. Journal International Du Cancer
Cristina BilbaoManuel Perucho

Abstract

Microsatellite instability (MSI) and mutations in the PTEN gene are among the molecular alterations involved in endometrial carcinogenesis. There is conflicting information regarding to their role in this type of tumor. For this reason, we have studied both molecular lesions in a large population-based series of 205 patients with sporadic endometrial cancer. MSI was found in 41 (20.0%) of the tumors and PTEN mutations were found in 74 (36.1%). There were differences in genotype between tumors with and without MSI. Tumors with MSI showed both a higher frequency of PTEN mutations (58.5% vs. 30.4%) (p=0.002, Fisher's exact test) and a higher number of insertions or deletions (I/D) of one nucleotide within the mononucleotide tracts of the PTEN gene (45.8% vs. 11.4% out of all I/D, p=0.005). Conversely, G:C to A:T transitions in CpG dinucleotides were found mostly in microsatellite stable tumors (57.7% vs. 18.2% out of all single-base substitutions, p=0.037). Overall, 67.6% of tumors with mutated PTEN exhibited multiple mutations or allelic imbalance (AI). Multiple PTEN mutations in the same tumor were more frequent in tumors with MSI (60% vs. 25.7%); by contrast the presence of AI accompanying PTEN mutation was higher in microsatel...Continue Reading

References

Jan 1, 1994·Cold Spring Harbor Symposia on Quantitative Biology·M PeruchoE Stanbridge
Aug 2, 1995·Journal of the National Cancer Institute·G Marra, C R Boland
May 7, 1993·Science·L A AaltonenS R Hamilton
May 7, 1993·Science·S N ThibodeauD Schaid
Aug 8, 1996·Nature·S MalkhosyanM Perucho
Aug 19, 1997·Proceedings of the National Academy of Sciences of the United States of America·M P MyersN K Tonks
Aug 1, 1997·Human Molecular Genetics·M R NelenH Kremer
Nov 5, 1997·Nature Genetics·D KongA Horii
Oct 29, 1997·Proceedings of the National Academy of Sciences of the United States of America·S OlschwangG Thomas
Nov 13, 1998·Proceedings of the National Academy of Sciences of the United States of America·M P MyersN K Tonks
Mar 30, 1999·International Journal of Cancer. Journal International Du Cancer·X P ZhouR Hamelin
May 4, 1999·Trends in Cell Biology·T Maehama, J E Dixon
Sep 1, 1999·Proceedings of the National Academy of Sciences of the United States of America·M M GeorgescuH Hanafusa
Feb 3, 2000·Proceedings of the National Academy of Sciences of the United States of America·J L TsaoD Shibata
Feb 29, 2000·Cell·A Di Cristofano, P P Pandolfi
Apr 11, 2000·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·M E Sherman
Apr 29, 2000·American Journal of Clinical Pathology·W C FaquinG L Mutter
Jun 8, 2000·Journal of the National Cancer Institute·G L MutterC Eng
Jun 24, 2000·Molecular and Cellular Biology·F VazquezW R Sellers
Jan 10, 2001·International Journal of Cancer. Journal International Du Cancer·H B SalvesenS Das
Feb 24, 2001·American Journal of Clinical Pathology·H SunY Murata
Mar 27, 2001·Journal of Cellular Physiology·A Bellacosa
Jun 30, 2001·Human Pathology·X Matias-GuiuJ Prat
Sep 13, 2001·Proceedings of the National Academy of Sciences of the United States of America·B Kwabi-AddoM Ittmann
Mar 14, 2002·The American Journal of Pathology·Michele A ZysmanBharati Bapat
Apr 12, 2002·The American Journal of Pathology·Kyoung-Mee KimDarryl Shibata
Aug 26, 2003·Human Mutation·Charis Eng
Sep 6, 2003·Cancer Cell·Kentaro YamashitaManuel Perucho

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Citations

May 27, 2008·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Julia TurbinerJosé Palacios
May 17, 2011·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Renske A de JongHarry Hollema
Apr 20, 2013·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Bojana DjordjevicRussell R Broaddus
Jan 12, 2011·Nature Reviews. Clinical Oncology·Konstantin J DedesJorge S Reis-Filho
Sep 17, 2008·Oncogene·Y Yin, W H Shen
Aug 29, 2009·Annals of Oncology : Official Journal of the European Society for Medical Oncology·B MarkmanJ Baselga
May 15, 2012·Current Opinion in Oncology·Britta Weigelt, Susana Banerjee
Mar 3, 2009·The American Journal of Surgical Pathology·Petra RuemmeleArndt Hartmann
Jul 22, 2009·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Yevgeniy Karamurzin, Joanne K L Rutgers
Mar 16, 2007·International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society·X WanW Lu
Nov 28, 2007·Annual Review of Pathology·Antonio Di Cristofano, Lora Hedrick Ellenson
Feb 12, 2010·Obstetrics and Gynecology International·Flora ZagouriChristos A Papadimitriou
Aug 1, 2012·Paediatric Drugs·David BarrettDavid T Teachey
Sep 11, 2010·Expert Opinion on Emerging Drugs·Ozden AltundagAli Ayhan
Sep 10, 2013·Surgical Oncology Clinics of North America·Burhan HassanFunda Meric-Bernstam
Apr 9, 2013·Critical Reviews in Oncology/hematology·Ivan Diaz-PadillaJesus Garcia-Donas
Dec 8, 2011·Gynecologic Oncology·Giuseppe BifulcoLuca Ulianich
Sep 14, 2010·Critical Reviews in Oncology/hematology·Giannis MountziosChristos A Papadimitriou
Jul 20, 2010·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Cristina BilbaoJuan Carlos Díaz-Chico
Nov 7, 2015·Proteomics. Clinical Applications·Parul MittalPeter Hoffmann
Nov 12, 2009·Gynecologic Oncology·Paola A Gehrig, Victoria L Bae-Jump
Dec 7, 2007·The Journal of Steroid Biochemistry and Molecular Biology·A DollJ Reventós
Nov 15, 2008·International Journal of Dermatology·Jaap J A J van der VeldenMaurice A M van Steensel
Sep 25, 2012·International Journal of Cancer. Journal International Du Cancer·Rocco MazzoliniDiego Arango
Mar 17, 2007·Pathology·Jaime PratLluis Catasús
May 4, 2015·Cancer Chemotherapy and Pharmacology·Jesse Lopes da SilvaAndréia Cristina de Melo
Mar 23, 2010·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Helen J MackayAmit M Oza
Dec 3, 2014·Molecular and Cellular Endocrinology·He KeTanri Shiozawa
Aug 16, 2016·Surgical Pathology Clinics·Lauren L Ritterhouse, Brooke E Howitt
Sep 2, 2014·American Journal of Obstetrics and Gynecology·G Larry MaxwellJohn I Risinger
May 1, 2008·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Gideon M Blumenthal, Phillip A Dennis
May 10, 2017·International Journal of Molecular Sciences·Raffaella LiccardoFrancesca Duraturo
Dec 8, 2017·Gynecologic Oncology Research and Practice·Vicky MakkerDavid Scott Miller
Feb 12, 2017·F1000Research·Arthur-Quan Tran, Paola Gehrig
Oct 1, 2019·Advances in Anatomic Pathology·Mohammed AkhtarAjayeb D M H Al-Nabet
Aug 28, 2019·Expert Opinion on Pharmacotherapy·Manuela NeriValerio Mais
Feb 27, 2020·International Journal of Molecular Sciences·Gianluca LopezNicola Fusco
Dec 17, 2008·Cancer Control : Journal of the Moffitt Cancer Center·Nisha BansalRobert M Wenham
Nov 30, 2006·Current Opinion in Oncology

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