Zobrazeno 1 - 10
of 449
pro vyhledávání: '"Mecklin JP"'
Autor:
Laura Renkonen-Sinisalo, Johanna Kondelin, Ulrika A. Hänninen, Jan Böhm, P. von Nandelstadh, Tatiana Cajuso, Riku Katainen, Sari Tuupanen, Minna Taipale, Kaisa Lehti, Claus L. Andersen, Heikki Järvinen, Mecklin Jp, Esa Pitkänen, Pia Vahteristo, Heikki Ristolainen, Tomas Tanskanen, Lauri A. Aaltonen, Alexandra E. Gylfe, Jussi Taipale
Publikováno v:
Tuupanen, S, Hänninen, U A, Kondelin, J, von Nandelstadh, P, Cajuso, T, Gylfe, A E, Katainen, R, Tanskanen, T, Ristolainen, H, Böhm, J, Mecklin, J-P, Järvinen, H, Renkonen-Sinisalo, L, Andersen, C L, Taipale, M, Taipale, J, Vahteristo, P, Lehti, K, Pitkänen, E & Aaltonen, L A 2014, ' Identification of 33 candidate oncogenes by screening for base-specific mutations ', B J C, pp. 1657-1662 . https://doi.org/10.1038/bjc.2014.429
British Journal of Cancer
British Journal of Cancer
Background:Genes with recurrent codon-specific somatic mutations are likely drivers of tumorigenesis and potential therapeutic targets. Hypermutable cancers may represent a sensitive system for generation and selection of oncogenic mutations.Methods:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cca1a8eded2a2a52cb28e00bc1fda8bc
https://doi.org/10.1038/bjc.2014.429
https://doi.org/10.1038/bjc.2014.429
Autor:
I. P. M. Tomlinson, Gabriela Moeslein, Virpi Launonen, T Vogel, Mecklin Jp, F W M de Rooji, Kristiina Aittomäki, Anne Marie Westerman, James P. Robinson, Emmanouil Volikos, Andrew Silver, Lauri A. Aaltonen, Helinä Järvinen
Publikováno v:
Journal of Medical Genetics, 43(5). BMJ Publishing Group
Background: LKB1/STK11 germline mutations cause Peutz-Jeghers syndrome (PJS). The existence of a second PJS locus is controversial, the evidence in its favour being families unlinked to LKB1 and the low frequency of LKB1 mutations found using convent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745995d7e2c455e0bd122fa6643942b0
https://ora.ox.ac.uk/objects/uuid:b20eef3c-afa0-42a9-a797-b73ad7f1124f
https://ora.ox.ac.uk/objects/uuid:b20eef3c-afa0-42a9-a797-b73ad7f1124f
Autor:
Taina T. Nieminen, Päivi Peltomäki, M. Aarnio, Mecklin Jp, Annette Gylling, Kyösti Nuorva, Heikki Järvinen, Emmi I. Joensuu, Wael M. Abdel-Rahman, Matti Juhola
Publikováno v:
Carcinogenesis. 29:1351-1359
Hereditary non-polyposis colorectal carcinoma (Lynch syndrome) is among the most common hereditary cancers in man and a model of cancers arising through deficient DNA mismatch repair (MMR). Lynch syndrome patients are predisposed to different cancers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2732350a89b61ecf567803709a36b1d
https://doi.org/10.1093/carcin/bgn133
https://doi.org/10.1093/carcin/bgn133
Autor:
Laura Lahtinen, Teijo Kuopio, Ilmo Kellokumpu, Matti V. Kairaluoma, T K E Liipo, Jan Böhm, Toni T. Seppälä, Marjukka Friman, Mecklin Jp, Ari Ristimäki, Ville Väyrynen
Publikováno v:
British Journal of Cancer
Background: The objective of the study was to examine the role of microsatellite instability (MSI) and BRAFV600Emutation in colorectal cancer (CRC) by categorising patients into more detailed subtypes based on tumour characteristics. Methods: Tumour
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba8749a5cfa835e4ccc7878a0d440784
https://pubmed.ncbi.nlm.nih.gov/25973534
https://pubmed.ncbi.nlm.nih.gov/25973534
Autor:
Heikki Järvinen, Antti Kokko, Simó Schwartz, Päivi Laiho, Sakari Vanharanta, Diego Arango, Lauri A. Aaltonen, Markus J. Mäkinen, Mecklin Jp, Reijo Salovaara, Tuomo J. Karttunen, Karoliina Tuppurainen, Heli Sammalkorpi, Veronica Davalos
Publikováno v:
Europe PubMed Central
Serrated colorectal carcinomas (CRCs) are morphologically different from conventional CRCs and have been proposed to follow a distinct pathway of CRC formation. Despite studies of single molecular events in this tumor type, the diagnosis of serrated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ca627e1b59ecf61abc6acc7b781de81
https://doi.org/10.1038/sj.onc.1209778
https://doi.org/10.1038/sj.onc.1209778
Autor:
Pia Alhopuro, Timo Atula, Sinikka Suominen, Walter J. Koskinen, Lauri A. Aaltonen, Pia Vahteristo, Leena-Maija Aaltonen, Ilmo Leivo, Risto Kontio, Petri Bono, Helinä Järvinen, Mecklin Jp, Johanna Arola, Antti Mäkitie, Sanna K. Ylisaukko-oja
Publikováno v:
Journal of Medical Genetics. 42:694-698
Background: MDM2 acts as a principal regulator of the tumour suppressor p53 by targeting its destruction through the ubiquitin pathway. A polymorphism in the MDM2 promoter (SNP309) was recently identified. SNP309 was shown to result, via Sp1, in high
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::419ba4c0491972141568ecfbbaba57c1
https://doi.org/10.1136/jmg.2005.031260
https://doi.org/10.1136/jmg.2005.031260
Autor:
Pentti Sipponen, M. Aarnio, Mecklin Jp, Seppo Sarna, Helinä Järvinen, Laura Renkonen-Sinisalo, Risto Julkunen, Lauri A. Aaltonen
Publikováno v:
Scandinavian Journal of Gastroenterology. 37:574-577
The DNA mismatch repair gene mutations underlying hereditary non-polyposis colorectal cancer syndrome (HNPCC) also predispose, besides colorectal and endometrial cancer, to gastric cancer. usually of the intestinal type. The carcinogenetic pathway be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e529ebe9e4ed1c7742cf5d3a6e8794bd
https://doi.org/10.1080/00365520252903134
https://doi.org/10.1080/00365520252903134
Autor:
Katja Aktan-Collan, Mecklin Jp, I Soderling, H Kääriäinen, Päivi Peltomäki, A de la Chapelle, Antti Uutela, Heikki Järvinen, Minna Nystrom-Lahti
Publikováno v:
International Journal of Cancer. 89:44-50
The aim of this prospective study was to assess the uptake of predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC) and its associations with sociodemographic and other factors, and long-term satisfaction with taking the t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3a810642169e40e9baac9e805225f46
https://doi.org/10.1002/(sici)1097-0215(20000120)89:1<44::aid-ijc8>3.0.co
https://doi.org/10.1002/(sici)1097-0215(20000120)89:1<44::aid-ijc8>3.0.co
Autor:
Tom Böhling, Peter Hokland, Ralf Bützow, H-R Heinonen, Lauri A. Aaltonen, Pia Vahteristo, Johanna Arola, Miika Mehine, Netta Mäkinen, Heli J. Lehtonen, Omar Abdel-Wahab, H. Schrewe, Jan Böhm, Mecklin Jp, Kati Kämpjärvi, Ross L. Levine, Heli Nevanlinna, Outi Kilpivaara, Liisa M. Pelttari
Publikováno v:
British Journal of Cancer
Kämpjärvi, K, Mäkinen, N, Kilpivaara, O, Arola, J, Heinonen, H-R, Böhm, J, Abdel-Wahab, O, Lehtonen, H J, Pelttari, L M, Mehine, M, Schrewe, H, Nevanlinna, H, Levine, R L, Hokland, P, Böhling, T, Mecklin, J-P, Bützow, R, Aaltonen, L A & Vahteristo, P 2012, ' Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer ', B J C, vol. 107, no. 10, pp. 1761-5 . https://doi.org/10.1038/bjc.2012.428
Kämpjärvi, K, Mäkinen, N, Kilpivaara, O, Arola, J, Heinonen, H-R, Böhm, J, Abdel-Wahab, O, Lehtonen, H J, Pelttari, L M, Mehine, M, Schrewe, H, Nevanlinna, H, Levine, R L, Hokland, P, Böhling, T, Mecklin, J-P, Bützow, R, Aaltonen, L A & Vahteristo, P 2012, ' Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer ', B J C, vol. 107, no. 10, pp. 1761-5 . https://doi.org/10.1038/bjc.2012.428
Background: Mediator complex participates in transcriptional regulation by connecting regulatory DNA sequences to the RNA polymerase II initiation complex. Recently, we discovered through exome sequencing that as many as 70% of uterine leiomyomas har
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a77e4d3382cf7435691f7f506e83631e
Autor:
Alhopuro P, Sammalkorpi H, Niittymxe4ki I, Bistrxf6m M, Raitila A, Saharinen J, Nousiainen K, Lehtonen HJ, Helixf6vaara E, Puhakka J, Tuupanen S, Sousa S, Seruca R, Ferreira AM, Hofstra RMW, Mecklin JP, Jxe4rvinen H, Ristimxe4ki A, xd8rntoft TF, Hautaniemi S, Arango D, Karhu A & Aaltonen LA.
Publikováno v:
International Journal of Cancer.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=erc_________::0c273c548c95bc711b396e6932f45c63