Primary Site >> Colorectal Cancer
Gene >> POLD1
| 1. | |||||||||||
| Journal: | Int J Oncol. 2004 Mar;24(3):697-702. | ||||||||||
| Title: | Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1. | ||||||||||
| Author: | Yabuta, Tomonori|Shinmura, Kazuya|Yamane, Arito|Yamaguchi, Satoru|Takenoshita, Seiichi|Yokota, Jun | ||||||||||
| PMID: | 14767555 | ||||||||||
| 2. | |||||||||||
| Journal: | Nat Genet. 2013 Feb;45(2):136-44. | ||||||||||
| Title: | Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. | ||||||||||
| Author: | Palles, Claire|Cazier, Jean-Baptiste|Howarth, Kimberley M|Domingo, Enric|Jones, Angela M|Broderick, Peter|Kemp, Zoe|Spain, Sarah L|Guarino, Estrella|Salguero, Israel|Sherborne, Amy|Chubb, Daniel|Carvajal-Carmona, Luis G|Ma, Yusanne|Kaur, Kulvinder|Dobbins | ||||||||||
| PMID: | 23263490 | ||||||||||
| 3. | |||||||||||
| Journal: | Nat Genet. 2013 Feb;45(2):121-2. | ||||||||||
| Title: | The burden of faulty proofreading in colon cancer. | ||||||||||
| Author: | Seshagiri, Somasekar | ||||||||||
| PMID: | 23358219 | ||||||||||
| 4. | |||||||||||
| Journal: | Hum Mol Genet. 2013 Jul 15;22(14):2820-8. | ||||||||||
| Title: | DNA polymerase epsilon and delta exonuclease domain mutations in endometrial cancer. | ||||||||||
| Author: | Church, David N|Briggs, Sarah E W|Palles, Claire|Domingo, Enric|Kearsey, Stephen J|Grimes, Jonathon M|Gorman, Maggie|Martin, Lynn|Howarth, Kimberley M|Hodgson, Shirley V|Kaur, Kulvinder|Taylor, Jenny|Tomlinson, Ian P M | ||||||||||
| PMID: | 23528559 | ||||||||||
| 5. | |||||||||||
| Journal: | J Med Genet. 2014 Jan;51(1):55-60. | ||||||||||
| Title: | Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis. | ||||||||||
| Author: | Hes, Frederik J|Ruano, Dina|Nieuwenhuis, Marry|Tops, Carli M|Schrumpf, Melanie|Nielsen, Maartje|Huijts, Petra E A|Wijnen, Juul T|Wagner, Anja|Gomez Garcia, Encarna B|Sijmons, Rolf H|Menko, Fred H|Letteboer, Tom G W|Hoogerbrugge, Nicoline|Harryvan, Jan|Kam | ||||||||||
| PMID: | 24253443 | ||||||||||
| 6. | |||||||||||
| Journal: | Hum Mol Genet. 2014 Jul 1;23(13):3506-12. | ||||||||||
| Title: | New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. | ||||||||||
| Author: | Valle, Laura|Hernandez-Illan, Eva|Bellido, Fernando|Aiza, Gemma|Castillejo, Adela|Castillejo, Maria-Isabel|Navarro, Matilde|Segui, Nuria|Vargas, Gardenia|Guarinos, Carla|Juarez, Miriam|Sanjuan, Xavier|Iglesias, Silvia|Alenda, Cristina|Egoavil, Cecilia|Seg | ||||||||||
| PMID: | 24501277 | ||||||||||
| 7. | |||||||||||
| Journal: | Dis Colon Rectum. 2014 Mar;57(3):396-7. | ||||||||||
| Title: | Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition. | ||||||||||
| Author: | Church, James M | ||||||||||
| PMID: | 24509466 | ||||||||||
| 8. | |||||||||||
| Journal: | World J Gastroenterol. 2014 Feb 28;20(8):1961-71. | ||||||||||
| Title: | New genes emerging for colorectal cancer predisposition. | ||||||||||
| Author: | Esteban-Jurado, Clara|Garre, Pilar|Vila, Maria|Lozano, Juan Jose|Pristoupilova, Anna|Beltran, Sergi|Abuli, Anna|Munoz, Jenifer|Balaguer, Francesc|Ocana, Teresa|Castells, Antoni|Pique, Josep M|Carracedo, Angel|Ruiz-Ponte, Clara|Bessa, Xavier|Andreu, Montse | ||||||||||
| PMID: | 24587672 | ||||||||||
| 9. | |||||||||||
| Journal: | Fam Cancer. 2014 Sep;13(3):499-505. | ||||||||||
| Title: | Genetics of endometrial cancer. | ||||||||||
| Author: | Shai, Ayelet|Segev, Yakir|Narod, Steven A | ||||||||||
| PMID: | 24838932 | ||||||||||
| 10. | |||||||||||
| Journal: | Int J Cancer. 2015 Apr 1;136(7):1568-78. | ||||||||||
| Title: | Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers. | ||||||||||
| Author: | Kang, So Young|Park, Cheol Keun|Chang, Dong Kyung|Kim, Jong Won|Son, Hee Jung|Cho, Yong Beom|Yun, Seong Hyeon|Kim, Hee Cheol|Kwon, Moosik|Kim, Kyoung-Mee | ||||||||||
| PMID: | 25110875 | ||||||||||
| 11. | |||||||||||
| Journal: | J Med Genet. 2015 Dec;52(12):791-6. | ||||||||||
| Title: | Inherited predisposition to colorectal cancer: towards a more complete picture. | ||||||||||
| Author: | Short, Emma|Thomas, Laura E|Hurley, Joanna|Jose, Sian|Sampson, Julian R | ||||||||||
| PMID: | 26297796 | ||||||||||
| 12. | |||||||||||
| Journal: | Ann Clin Biochem. 2015 Nov;52(Pt 6):690-2. | ||||||||||
| Title: | The Mendelian colorectal cancer syndromes. | ||||||||||
| Author: | Tomlinson, Ian | ||||||||||
| PMID: | 26169059 | ||||||||||
| 13. | |||||||||||
| Journal: | Proc Natl Acad Sci U S A. 2015 May 12;112(19):E2467-76. | ||||||||||
| Title: | Colon cancer-associated mutator DNA polymerase delta variant causes expansion of dNTP pools increasing its own infidelity. | ||||||||||
| Author: | Mertz, Tony M|Sharma, Sushma|Chabes, Andrei|Shcherbakova, Polina V | ||||||||||
| PMID: | 25827231 | ||||||||||
| 14. | |||||||||||
| Journal: | J Clin Oncol. 2015 Feb 10;33(5):426-32. | ||||||||||
| Title: | Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. | ||||||||||
| Author: | Chubb, Daniel|Broderick, Peter|Frampton, Matthew|Kinnersley, Ben|Sherborne, Amy|Penegar, Steven|Lloyd, Amy|Ma, Yussanne P|Dobbins, Sara E|Houlston, Richard S | ||||||||||
| PMID: | 25559809 | ||||||||||
| 15. | |||||||||||
| Journal: | Int J Cancer. 2015 Jul 15;137(2):320-31. | ||||||||||
| Title: | Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. | ||||||||||
| Author: | Spier, Isabel|Holzapfel, Stefanie|Altmuller, Janine|Zhao, Bixiao|Horpaopan, Sukanya|Vogt, Stefanie|Chen, Sophia|Morak, Monika|Raeder, Susanne|Kayser, Katrin|Stienen, Dietlinde|Adam, Ronja|Nurnberg, Peter|Plotz, Guido|Holinski-Feder, Elke|Lifton, Richard P | ||||||||||
| PMID: | 25529843 | ||||||||||
| 16. | |||||||||||
| Journal: | Eur J Hum Genet. 2015 Aug;23(8):1080-4. | ||||||||||
| Title: | Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. | ||||||||||
| Author: | Elsayed, Fadwa A|Kets, C Marleen|Ruano, Dina|van den Akker, Brendy|Mensenkamp, Arjen R|Schrumpf, Melanie|Nielsen, Maartje|Wijnen, Juul T|Tops, Carli M|Ligtenberg, Marjolijn J|Vasen, Hans F A|Hes, Frederik J|Morreau, Hans|van Wezel, Tom | ||||||||||
| PMID: | 25370038 | ||||||||||
| 17. | |||||||||||
| Journal: | Genet Test Mol Biomarkers. 2016 Dec;20(12):777-785. | ||||||||||
| Title: | Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. | ||||||||||
| Author: | Marabelli, Monica|Molinaro, Valeria|Abou Khouzam, Raefa|Berrino, Enrico|Panero, Mara|Balsamo, Antonella|Venesio, Tiziana|Ranzani, Guglielmina Nadia | ||||||||||
| PMID: | 27705013 | ||||||||||
| 18. | |||||||||||
| Journal: | J Med Genet. 2016 Mar;53(3):172-9. | ||||||||||
| Title: | Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. | ||||||||||
| Author: | Spier, Isabel|Drichel, Dmitriy|Kerick, Martin|Kirfel, Jutta|Horpaopan, Sukanya|Laner, Andreas|Holzapfel, Stefanie|Peters, Sophia|Adam, Ronja|Zhao, Bixiao|Becker, Tim|Lifton, Richard P|Perner, Sven|Hoffmann, Per|Kristiansen, Glen|Timmermann, Bernd|Nothen, | ||||||||||
| PMID: | 26613750 | ||||||||||
| 19. | |||||||||||
| Journal: | Am J Hum Genet. 2016 Aug 4;99(2):337-51. | ||||||||||
| Title: | Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. | ||||||||||
| Author: | Adam, Ronja|Spier, Isabel|Zhao, Bixiao|Kloth, Michael|Marquez, Jonathan|Hinrichsen, Inga|Kirfel, Jutta|Tafazzoli, Aylar|Horpaopan, Sukanya|Uhlhaas, Siegfried|Stienen, Dietlinde|Friedrichs, Nicolaus|Altmuller, Janine|Laner, Andreas|Holzapfel, Stefanie|Pete | ||||||||||
| PMID: | 27476653 | ||||||||||
| 20. | |||||||||||
| Journal: | Oncotarget. 2016 Feb 9;7(6):7080-95. | ||||||||||
| Title: | A synthetic lethal screen identifies ATR-inhibition as a novel therapeutic approach for POLD1-deficient cancers. | ||||||||||
| Author: | Hocke, Sandra|Guo, Yang|Job, Albert|Orth, Michael|Ziesch, Andreas|Lauber, Kirsten|De Toni, Enrico N|Gress, Thomas M|Herbst, Andreas|Goke, Burkhard|Gallmeier, Eike | ||||||||||
| PMID: | 26755646 | ||||||||||
| 21. | |||||||||||
| Journal: | Gynecol Oncol. 2016 Apr;141(1):113-20. | ||||||||||
| Title: | Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas. | ||||||||||
| Author: | Wong, Adele|Kuick, Chik Hong|Wong, Wai Loong|Tham, Jill M|Mansor, Sorsiah|Loh, Eva|Jain, Sudhanshi|Vikas, Nadkarni N|Tan, Sze Huey|Chan, Sock Hoai|Li, Shao Tzu|Chew, Sung Hock|Hong, Wanjin|Ngeow, Joanne | ||||||||||
| PMID: | 26748215 | ||||||||||
| 22. | |||||||||||
| Journal: | Genet Med. 2016 Apr;18(4):325-32. | ||||||||||
| Title: | 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. | ||||||||||
| Author: | Bellido, Fernando|Pineda, Marta|Aiza, Gemma|Valdes-Mas, Rafael|Navarro, Matilde|Puente, Diana A|Pons, Tirso|Gonzalez, Sara|Iglesias, Silvia|Darder, Esther|Pinol, Virginia|Soto, Jose Luis|Valencia, Alfonso|Blanco, Ignacio|Urioste, Miguel|Brunet, Joan|Lazar | ||||||||||
| PMID: | 26133394 | ||||||||||
| 23. | |||||||||||
| Journal: | J Gene Med. 2017 Apr;19(4). | ||||||||||
| Title: | Characterization of a novel POLD1 missense founder mutation in a Spanish population. | ||||||||||
| Author: | Ferrer-Avargues, Rosario|Diez-Obrero, Virginia|Martin-Tomas, Ester|Hernandez-Illan, Eva|Castillejo, Maria-Isabel|Codoner-Alejos, Alan|Barbera, Victor-Manuel|Sanchez-Heras, Ana-Beatriz|Segura, Angel|Juan, Maria-Jose|Tena, Isabel|Castillejo, Adela|Soto, Jos | ||||||||||
| PMID: | 28306219 | ||||||||||
| 24. | |||||||||||
| Journal: | Oncogene. 2017 Aug;36(31):4427-4433. | ||||||||||
| Title: | Nucleotide selectivity defect and mutator phenotype conferred by a colon cancer-associated DNA polymerase delta mutation in human cells. | ||||||||||
| Author: | Mertz, T M|Baranovskiy, A G|Wang, J|Tahirov, T H|Shcherbakova, P V | ||||||||||
| PMID: | 28368425 | ||||||||||
| 25. | |||||||||||
| Journal: | Oncotarget. 2017 Apr 18;8(16):26732-26743. | ||||||||||
| Title: | POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer. | ||||||||||
| Author: | Esteban-Jurado, Clara|Gimenez-Zaragoza, David|Munoz, Jenifer|Franch-Exposito, Sebastia|Alvarez-Barona, Miriam|Ocana, Teresa|Cuatrecasas, Miriam|Carballal, Sabela|Lopez-Ceron, Maria|Marti-Solano, Maria|Diaz-Gay, Marcos|van Wezel, Tom|Castells, Antoni|Bujan | ||||||||||
| PMID: | 28423643 | ||||||||||
| 26. | |||||||||||
| Journal: | Crit Rev Oncol Hematol. 2017 May;113:242-248. | ||||||||||
| Title: | Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency. | ||||||||||
| Author: | Bourdais, Remi|Rousseau, Benoit|Pujals, Anais|Boussion, Helene|Joly, Charlotte|Guillemin, Aude|Baumgaertner, Isabelle|Neuzillet, Cindy|Tournigand, Christophe | ||||||||||
| PMID: | 28427513 | ||||||||||
| 27. | |||||||||||
| Journal: | Metabolism. 2017 Jun;71:213-225. | ||||||||||
| Title: | Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). | ||||||||||
| Author: | Elouej, Sahar|Beleza-Meireles, Ana|Caswell, Richard|Colclough, Kevin|Ellard, Sian|Desvignes, Jean Pierre|Beroud, Christophe|Levy, Nicolas|Mohammed, Shehla|De Sandre-Giovannoli, Annachiara | ||||||||||
| PMID: | 28521875 | ||||||||||
| 28. | |||||||||||
| Journal: | Sci Rep. 2017 May 22;7(1):2214. | ||||||||||
| Title: | Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. | ||||||||||
| Author: | Khan, Nikhat|Lipsa, Anuja|Arunachal, Gautham|Ramadwar, Mukta|Sarin, Rajiv | ||||||||||
| PMID: | 28533537 | ||||||||||
| 29. | |||||||||||
| Journal: | Balkan J Med Genet. 2017 Dec 29;20(2):83-88. | ||||||||||
| Title: | Detection of Allelic Variants of the POLE and POLD1 Genes in Colorectal Cancer Patients. | ||||||||||
| Author: | LA, Patzold|D, Berzina|Z, Daneberga|J, Gardovskis|E, Miklasevics | ||||||||||
| PMID: | 29876237 | ||||||||||
| 30. | |||||||||||
| Journal: | JCO Precis Oncol. 2017;2017. Epub 2017 Apr 27. | ||||||||||
| Title: | Exceptional Chemotherapy Response in Metastatic Colorectal Cancer Associated With Hyper-Indel-Hypermutated Cancer Genome and Comutation of POLD1 and MLH1. | ||||||||||
| Author: | Sharma, Manish R|Auman, James T|Patel, Nirali M|Grilley-Olson, Juneko E|Zhao, Xiaobei|Moschos, Stergios J|Parker, Joel S|Yin, Xiaoying|Hayward, Michele C|Polite, Blase N|Marangon, Elena|Posocco, Bianca|Toffoli, Giuseppe|Hayes, D Neil|Innocenti, Federico | ||||||||||
| PMID: | 30009279 | ||||||||||
| 31. | |||||||||||
| Journal: | Genet Med. 2018 Aug;20(8):890-895. | ||||||||||
| Title: | Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. | ||||||||||
| Author: | Buchanan, Daniel D|Stewart, Jenna R|Clendenning, Mark|Rosty, Christophe|Mahmood, Khalid|Pope, Bernard J|Jenkins, Mark A|Hopper, John L|Southey, Melissa C|Macrae, Finlay A|Winship, Ingrid M|Win, Aung Ko | ||||||||||
| PMID: | 29120461 | ||||||||||
| 32. | |||||||||||
| Journal: | Genet Med. 2018 Feb 1. pii: gim2017265. | ||||||||||
| Title: | Corrigendum: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. | ||||||||||
| Author: | Buchanan, Daniel D|Stewart, Jenna R|Clendenning, Mark|Rosty, Christophe|Mahmood, Khalid|Pope, Bernard J|Jenkins, Mark A|Hopper, John L|Southey, Melissa C|Macrae, Finlay A|Winship, Ingrid M|Win, Aung Ko | ||||||||||
| PMID: | 29388942 | ||||||||||
| 33. | |||||||||||
| Journal: | Clin Genet. 2018 May;93(5):1015-1021. | ||||||||||
| Title: | Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. | ||||||||||
| Author: | Yanus, G A|Akhapkina, T A|Ivantsov, A O|Preobrazhenskaya, E V|Aleksakhina, S N|Bizin, I V|Sokolenko, A P|Mitiushkina, N V|Kuligina, E Sh|Suspitsin, E N|Venina, A R|Holmatov, M M|Zaitseva, O A|Yatsuk, O S|Pashkov, D V|Belyaev, A M|Togo, A V|Imyanitov, E N| | ||||||||||
| PMID: | 29406563 | ||||||||||
| 34. | |||||||||||
| Journal: | Dis Colon Rectum. 2018 Sep;61(9):1073-1079. | ||||||||||
| Title: | POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas. | ||||||||||
| Author: | Rosner, Guy|Gluck, Nathan|Carmi, Shai|Bercovich, Dani|Fliss-Issakov, Naomi|Ben-Yehoyada, Merav|Aharon-Caspi, Sivan|Kellerman, Efrat|Strul, Hana|Shibolet, Oren|Kariv, Revital | ||||||||||
| PMID: | 30086056 | ||||||||||