Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.
Anne Ml Jansen, Tom van Wezel, Brendy Ewm van den Akker, Marina Ventayol Garcia, Dina Ruano, Carli Mj Tops, Anja Wagner, Tom Gw Letteboer, Encarna B Gómez-García, Peter Devilee, Juul T Wijnen, Frederik J Hes, Hans Morreau. Eur J Hum Genet 2016
Times Cited: 84
Times Cited: 84
Times Cited
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Claire Palles, Jean-Baptiste Cazier, Kimberley M Howarth, Enric Domingo, Angela M Jones, Peter Broderick, Zoe Kemp, Sarah L Spain, Estrella Guarino, Israel Salguero,[...]. Nat Genet 2013
Claire Palles, Jean-Baptiste Cazier, Kimberley M Howarth, Enric Domingo, Angela M Jones, Peter Broderick, Zoe Kemp, Sarah L Spain, Estrella Guarino, Israel Salguero,[...]. Nat Genet 2013
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Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
Fadwa A Elsayed, C Marleen Kets, Dina Ruano, Brendy van den Akker, Arjen R Mensenkamp, Melanie Schrumpf, Maartje Nielsen, Juul T Wijnen, Carli M Tops, Marjolijn J Ligtenberg,[...]. Eur J Hum Genet 2015
Fadwa A Elsayed, C Marleen Kets, Dina Ruano, Brendy van den Akker, Arjen R Mensenkamp, Melanie Schrumpf, Maartje Nielsen, Juul T Wijnen, Carli M Tops, Marjolijn J Ligtenberg,[...]. Eur J Hum Genet 2015
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Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
Sigurdis Haraldsdottir, Heather Hampel, Jerneja Tomsic, Wendy L Frankel, Rachel Pearlman, Albert de la Chapelle, Colin C Pritchard. Gastroenterology 2014
Sigurdis Haraldsdottir, Heather Hampel, Jerneja Tomsic, Wendy L Frankel, Rachel Pearlman, Albert de la Chapelle, Colin C Pritchard. Gastroenterology 2014
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Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
Arjen R Mensenkamp, Ingrid P Vogelaar, Wendy A G van Zelst-Stams, Monique Goossens, Hicham Ouchene, Sandra J B Hendriks-Cornelissen, Michael P Kwint, Nicoline Hoogerbrugge, Iris D Nagtegaal, Marjolijn J L Ligtenberg. Gastroenterology 2014
Arjen R Mensenkamp, Ingrid P Vogelaar, Wendy A G van Zelst-Stams, Monique Goossens, Hicham Ouchene, Sandra J B Hendriks-Cornelissen, Michael P Kwint, Nicoline Hoogerbrugge, Iris D Nagtegaal, Marjolijn J L Ligtenberg. Gastroenterology 2014
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Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers.
Willemina R R Geurts-Giele, Celine H M Leenen, Hendrikus J Dubbink, Isabelle C Meijssen, Edward Post, Hein F B M Sleddens, Ernst J Kuipers, Anne Goverde, Ans M W van den Ouweland, Margot G F van Lier,[...]. J Pathol 2014
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Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
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Risk of cancer in cases of suspected lynch syndrome without germline mutation.
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María Rodríguez-Soler, Lucía Pérez-Carbonell, Carla Guarinos, Pedro Zapater, Adela Castillejo, Victor M Barberá, Miriam Juárez, Xavier Bessa, Rosa M Xicola, Juan Clofent,[...]. Gastroenterology 2013
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Biallelic MUTYH mutations can mimic Lynch syndrome.
Monika Morak, Barbara Heidenreich, Gisela Keller, Heather Hampel, Andreas Laner, Albert de la Chapelle, Elke Holinski-Feder. Eur J Hum Genet 2014
Monika Morak, Barbara Heidenreich, Gisela Keller, Heather Hampel, Andreas Laner, Albert de la Chapelle, Elke Holinski-Feder. Eur J Hum Genet 2014
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Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
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Heather Hampel, Wendy L Frankel, Edward Martin, Mark Arnold, Karamjit Khanduja, Philip Kuebler, Hidewaki Nakagawa, Kaisa Sotamaa, Thomas W Prior, Judith Westman,[...]. N Engl J Med 2005
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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés-Mas, Matilde Navarro, Diana A Puente, Tirso Pons, Sara González, Silvia Iglesias, Esther Darder,[...]. Genet Med 2016
Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés-Mas, Matilde Navarro, Diana A Puente, Tirso Pons, Sara González, Silvia Iglesias, Esther Darder,[...]. Genet Med 2016
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PD-1 Blockade in Tumors with Mismatch-Repair Deficiency.
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Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.
Marjolijn J L Ligtenberg, Roland P Kuiper, Tsun Leung Chan, Monique Goossens, Konnie M Hebeda, Marsha Voorendt, Tracy Y H Lee, Danielle Bodmer, Eveline Hoenselaar, Sandra J B Hendriks-Cornelissen,[...]. Nat Genet 2009
Marjolijn J L Ligtenberg, Roland P Kuiper, Tsun Leung Chan, Monique Goossens, Konnie M Hebeda, Marsha Voorendt, Tracy Y H Lee, Danielle Bodmer, Eveline Hoenselaar, Sandra J B Hendriks-Cornelissen,[...]. Nat Genet 2009
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New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
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Comprehensive Analysis of Hypermutation in Human Cancer.
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Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
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Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors.
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Signatures of mutational processes in human cancer.
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A panoply of errors: polymerase proofreading domain mutations in cancer.
Emily Rayner, Inge C van Gool, Claire Palles, Stephen E Kearsey, Tjalling Bosse, Ian Tomlinson, David N Church. Nat Rev Cancer 2016
Emily Rayner, Inge C van Gool, Claire Palles, Stephen E Kearsey, Tjalling Bosse, Ian Tomlinson, David N Church. Nat Rev Cancer 2016
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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Ronja Adam, Isabel Spier, Bixiao Zhao, Michael Kloth, Jonathan Marquez, Inga Hinrichsen, Jutta Kirfel, Aylar Tafazzoli, Sukanya Horpaopan, Siegfried Uhlhaas,[...]. Am J Hum Genet 2016
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A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
Robbert D A Weren, Marjolijn J L Ligtenberg, C Marleen Kets, Richarda M de Voer, Eugène T P Verwiel, Liesbeth Spruijt, Wendy A G van Zelst-Stams, Marjolijn C Jongmans, Christian Gilissen, Jayne Y Hehir-Kwa,[...]. Nat Genet 2015
Robbert D A Weren, Marjolijn J L Ligtenberg, C Marleen Kets, Richarda M de Voer, Eugène T P Verwiel, Liesbeth Spruijt, Wendy A G van Zelst-Stams, Marjolijn C Jongmans, Christian Gilissen, Jayne Y Hehir-Kwa,[...]. Nat Genet 2015
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DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.
David N Church, Sarah E W Briggs, Claire Palles, Enric Domingo, Stephen J Kearsey, Jonathon M Grimes, Maggie Gorman, Lynn Martin, Kimberley M Howarth, Shirley V Hodgson,[...]. Hum Mol Genet 2013
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Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.
Sarah Briggs, Ian Tomlinson. J Pathol 2013
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Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Matthew B Yurgelun, Brian Allen, Rajesh R Kaldate, Karla R Bowles, Thaddeus Judkins, Praveen Kaushik, Benjamin B Roa, Richard J Wenstrup, Anne-Renee Hartman, Sapna Syngal. Gastroenterology 2015
Matthew B Yurgelun, Brian Allen, Rajesh R Kaldate, Karla R Bowles, Thaddeus Judkins, Praveen Kaushik, Benjamin B Roa, Richard J Wenstrup, Anne-Renee Hartman, Sapna Syngal. Gastroenterology 2015
14
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Bryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, Marc S Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellá, Johan T den Dunnen,[...]. Nat Genet 2014
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14
Integrated genomic characterization of endometrial carcinoma.
Cyriac Kandoth, Nikolaus Schultz, Andrew D Cherniack, Rehan Akbani, Yuexin Liu, Hui Shen, A Gordon Robertson, Itai Pashtan, Ronglai Shen, Christopher C Benz,[...]. Nature 2013
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14
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.
H F Vasen, P Watson, J P Mecklin, H T Lynch. Gastroenterology 1999
H F Vasen, P Watson, J P Mecklin, H T Lynch. Gastroenterology 1999
14
Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication.
Eve Shinbrot, Erin E Henninger, Nils Weinhold, Kyle R Covington, A Yasemin Göksenin, Nikolaus Schultz, Hsu Chao, HarshaVardhan Doddapaneni, Donna M Muzny, Richard A Gibbs,[...]. Genome Res 2014
Eve Shinbrot, Erin E Henninger, Nils Weinhold, Kyle R Covington, A Yasemin Göksenin, Nikolaus Schultz, Hsu Chao, HarshaVardhan Doddapaneni, Donna M Muzny, Richard A Gibbs,[...]. Genome Res 2014
14
Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).
Daniel D Buchanan, Christophe Rosty, Mark Clendenning, Amanda B Spurdle, Aung Ko Win. Appl Clin Genet 2014
Daniel D Buchanan, Christophe Rosty, Mark Clendenning, Amanda B Spurdle, Aung Ko Win. Appl Clin Genet 2014
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ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Sapna Syngal, Randall E Brand, James M Church, Francis M Giardiello, Heather L Hampel, Randall W Burt. Am J Gastroenterol 2015
Sapna Syngal, Randall E Brand, James M Church, Francis M Giardiello, Heather L Hampel, Randall W Burt. Am J Gastroenterol 2015
13
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
Adela Castillejo, Gardenia Vargas, María Isabel Castillejo, Matilde Navarro, Víctor Manuel Barberá, Sara González, Eva Hernández-Illán, Joan Brunet, Teresa Ramón y Cajal, Judith Balmaña,[...]. Eur J Cancer 2014
Adela Castillejo, Gardenia Vargas, María Isabel Castillejo, Matilde Navarro, Víctor Manuel Barberá, Sara González, Eva Hernández-Illán, Joan Brunet, Teresa Ramón y Cajal, Judith Balmaña,[...]. Eur J Cancer 2014
23
A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
Maren F Hansen, Jostein Johansen, Inga Bjørnevoll, Anna E Sylvander, Kristin S Steinsbekk, Pål Sætrom, Arne K Sandvik, Finn Drabløs, Wenche Sjursen. Fam Cancer 2015
Maren F Hansen, Jostein Johansen, Inga Bjørnevoll, Anna E Sylvander, Kristin S Steinsbekk, Pål Sætrom, Arne K Sandvik, Finn Drabløs, Wenche Sjursen. Fam Cancer 2015
21
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
Dung T Le, Jennifer N Durham, Kellie N Smith, Hao Wang, Bjarne R Bartlett, Laveet K Aulakh, Steve Lu, Holly Kemberling, Cara Wilt, Brandon S Luber,[...]. Science 2017
Dung T Le, Jennifer N Durham, Kellie N Smith, Hao Wang, Bjarne R Bartlett, Laveet K Aulakh, Steve Lu, Holly Kemberling, Cara Wilt, Brandon S Luber,[...]. Science 2017
13
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.
Nuria Seguí, Leonardo B Mina, Conxi Lázaro, Rebeca Sanz-Pamplona, Tirso Pons, Matilde Navarro, Fernando Bellido, Adriana López-Doriga, Rafael Valdés-Mas, Marta Pineda,[...]. Gastroenterology 2015
Nuria Seguí, Leonardo B Mina, Conxi Lázaro, Rebeca Sanz-Pamplona, Tirso Pons, Matilde Navarro, Fernando Bellido, Adriana López-Doriga, Rafael Valdés-Mas, Marta Pineda,[...]. Gastroenterology 2015
13
Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
Heather Hampel, Wendy L Frankel, Edward Martin, Mark Arnold, Karamjit Khanduja, Philip Kuebler, Mark Clendenning, Kaisa Sotamaa, Thomas Prior, Judith A Westman,[...]. J Clin Oncol 2008
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Milestones of Lynch syndrome: 1895-2015.
Henry T Lynch, Carrie L Snyder, Trudy G Shaw, Christopher D Heinen, Megan P Hitchins. Nat Rev Cancer 2015
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Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X.
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10
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Daniel Chubb, Peter Broderick, Matthew Frampton, Ben Kinnersley, Amy Sherborne, Steven Penegar, Amy Lloyd, Yussanne P Ma, Sara E Dobbins, Richard S Houlston. J Clin Oncol 2015
Daniel Chubb, Peter Broderick, Matthew Frampton, Ben Kinnersley, Amy Sherborne, Steven Penegar, Amy Lloyd, Yussanne P Ma, Sara E Dobbins, Richard S Houlston. J Clin Oncol 2015
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Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
Heather Hampel, Wendy Frankel, Jenny Panescu, Janet Lockman, Kaisa Sotamaa, Daniel Fix, Ilene Comeras, Jennifer La Jeunesse, Hidewaki Nakagawa, Judith A Westman,[...]. Cancer Res 2006
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Identification of Lynch syndrome among patients with colorectal cancer.
Leticia Moreira, Francesc Balaguer, Noralane Lindor, Albert de la Chapelle, Heather Hampel, Lauri A Aaltonen, John L Hopper, Loic Le Marchand, Steven Gallinger, Polly A Newcomb,[...]. JAMA 2012
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Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population.
Jennifer Rhees, Mildred Arnold, C Richard Boland. Fam Cancer 2014
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Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study.
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Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
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Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair.
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A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer.
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Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
Heather Hampel, Rachel Pearlman, Mallory Beightol, Weiqiang Zhao, Daniel Jones, Wendy L Frankel, Paul J Goodfellow, Ahmet Yilmaz, Kristin Miller, Jason Bacher,[...]. JAMA Oncol 2018
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Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Adam Shlien, Brittany B Campbell, Richard de Borja, Ludmil B Alexandrov, Daniele Merico, David Wedge, Peter Van Loo, Patrick S Tarpey, Paul Coupland, Sam Behjati,[...]. Nat Genet 2015
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Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer.
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9
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.