PMC Articles for MedGen (Select 1687472) - PMC

Select item 106643771.

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families

Christine A. M. Weber, Nicole Krönke, Valery Volk, Bernd Auber, Alisa Förster, Detlef Trost, Robert Geffers, Majid Esmaeilzadeh, Michael Lalk, Arya Nabavi, Amir Samii, Joachim K. Krauss, Friedrich Feuerhake, Christian Hartmann, Bettina Wiese, Frank Brand, Ruthild G. Weber

Acta Neuropathol Commun. 2023; 11: 184. Published online 2023 Nov 21. doi: 10.1186/s40478-023-01689-5

PMCID:: PMC10664377

Article PDF–10M

Select item 105805512.

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

Pilar Mur, Julen Viana-Errasti, Sandra García-Mulero, Lorena Magraner-Pardo, Inés G. Muñoz, Tirso Pons, Gabriel Capellá, Marta Pineda, Lidia Feliubadaló, Laura Valle

Genome Med. 2023; 15: 85. Published online 2023 Oct 17. doi: 10.1186/s13073-023-01234-y

PMCID:: PMC10580551

Article PDF–4.5M

Select item 101330593.

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk

Mariève J. Rocque, Vilde Leipart, Ashish Kumar Singh, Pilar Mur, Maren F. Olsen, Lars F. Engebretsen, Edgar Martin-Ramos, Rosa Aligué, Pål Sætrom, Laura Valle, Finn Drabløs, Marit Otterlei, Wenche Sjursen

Mol Genet Genomics. 2023; 298(3): 555–566. Published online 2023 Mar 1. doi: 10.1007/s00438-023-02000-w

PMCID:: PMC10133059

Article PDF–1.8M

Select item 95995014.

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis

Esther Schamschula, Miriam Kinzel, Annekatrin Wernstedt, Klaus Oberhuber, Hendrik Gottschling, Simon Schnaiter, Nicolaus Friedrichs, Sabine Merkelbach-Bruse, Johannes Zschocke, Richard Gallon, Katharina Wimmer

Biomolecules. 2022 Oct; 12(10): 1350. Published online 2022 Sep 22. doi: 10.3390/biom12101350

PMCID:: PMC9599501

Article PDF–1.7M

Select item 87170715.

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer

Jin Cheon Kim, Walter F. Bodmer

Ann Coloproctol. 2021 Dec; 37(6): 368–381. Published online 2021 Dec 22. doi: 10.3393/ac.2021.00878.0125

PMCID:: PMC8717071

Article PDF–531K

Select item 80327986.

Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies

Monika Vyas, Canan Firat, Jaclyn F. Hechtman, Martin R. Weiser, Rona Yaeger, Chad Vanderbilt, Jamal K. Benhamida, Ajaratu Keshinro, Liying Zhang, Peter Ntiamoah, Marco Gonzalez, Rebecca Andrade, Imane El Dika, Arnold J. Markowitz, J. Joshua Smith, Julio Garcia-Aguilar, Efsevia Vakiani, David S. Klimstra, Zsofia K. Stadler, Jinru Shia

Fam Cancer. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Fam Cancer. 2021 Jul; 20(3): 201–213. Published online 2020 Oct 9. doi: 10.1007/s10689-020-00210-4

PMCID:: PMC8032798

Article PDF–2.9M

Select item 77082987.

Role of POLE and POLD1 in familial cancer

Pilar Mur, Sandra García-Mulero, Jesús del Valle, Lorena Magraner-Pardo, August Vidal, Marta Pineda, Giacomo Cinnirella, Edgar Martín-Ramos, Tirso Pons, Adriana López-Doriga, Sami Belhadj, Lidia Feliubadaló, Pau M. Munoz-Torres, Matilde Navarro, Elia Grau, Esther Darder, Gemma Llort, Judit Sanz, Teresa Ramón y Cajal, Judith Balmana, Joan Brunet, Victor Moreno, Josep M. Piulats, Xavier Matías-Guiu, Rebeca Sanz-Pamplona, Rosa Aligué, Gabriel Capellá, Conxi Lázaro, Laura Valle

Genet Med. 2020; 22(12): 2089–2100. Published online 2020 Aug 14. doi: 10.1038/s41436-020-0922-2

PMCID:: PMC7708298

Article PDF–1.7M

Select item 59431868.

Risk of colorectal cancer for carriers of a germline mutation in POLE or POLD1

Daniel D. Buchanan, Jenna R. Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Bernard J. Pope, Mark A. Jenkins, John L. Hopper, Melissa C. Southey, Finlay A. Macrae, Ingrid M. Winship, Aung Ko Win

Genet Med. Author manuscript; available in PMC 2018 Sep 21.

Published in final edited form as: Genet Med. 2018 Aug; 20(8): 890–895. Published online 2017 Nov 9. doi: 10.1038/gim.2017.185

Correction in:: Genet Med. 2018 Feb 1

PMCID:: PMC5943186

Article PDF–220K

Select item 53538029.

The genetic basis of colonic adenomatous polyposis syndromes

Bente A. Talseth-Palmer

Hered Cancer Clin Pract. 2017; 15: 5. Published online 2017 Mar 16. doi: 10.1186/s13053-017-0065-x

PMCID:: PMC5353802

Article PDF–428K

Select item 524390210.

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

Katharina Wimmer, Andreas Beilken, Rainer Nustede, Tim Ripperger, Britta Lamottke, Benno Ure, Diana Steinmann, Tanja Reineke-Plaass, Ulrich Lehmann, Johannes Zschocke, Laura Valle, Christine Fauth, Christian P. Kratz

Fam Cancer. 2017; 16(1): 67–71. Published online 2016 Aug 29. doi: 10.1007/s10689-016-9925-1

PMCID:: PMC5243902

Article PDF–692K

Select item 454137811.

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer

John M Carethers, Elena M Stoffel

World J Gastroenterol. 2015 Aug 21; 21(31): 9253–9261. Published online 2015 Aug 21. doi: 10.3748/wjg.v21.i31.9253

PMCID:: PMC4541378

Article PDF–915K

Select item 400335212.

Replicative DNA polymerase mutations in cancer

Ellen Heitzer, Ian Tomlinson

Curr Opin Genet Dev. 2014 Feb; 24(100): 107–113. doi: 10.1016/j.gde.2013.12.005

PMCID:: PMC4003352

Article PDF–1.3M

Select item 393446613.

New genes emerging for colorectal cancer predisposition

Clara Esteban-Jurado, Pilar Garre, Maria Vila, Juan José Lozano, Anna Pristoupilova, Sergi Beltrán, Anna Abulí, Jenifer Muñoz, Francesc Balaguer, Teresa Ocaña, Antoni Castells, Josep M Piqué, Angel Carracedo, Clara Ruiz-Ponte, Xavier Bessa, Montserrat Andreu, Luis Bujanda, Trinidad Caldés, Sergi Castellví-Bel

World J Gastroenterol. 2014 Feb 28; 20(8): 1961–1971. Published online 2014 Feb 28. doi: 10.3748/wjg.v20.i8.1961

PMCID:: PMC3934466

Article PDF–1.2M

Select item 370911914.

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 Jun; 230(2): 148–153. Published online 2013 May 13. doi: 10.1002/path.4185

PMCID:: PMC3709119

Article PDF–367K

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