Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Autor: Ulrika A Hänninen, Riku Katainen, Tomas Tanskanen, Roosa-Maria Plaketti, Riku Laine, Jiri Hamberg, Ari Ristimäki, Eero Pukkala, Minna Taipale, Jukka-Pekka Mecklin, Linda M Forsström, Esa Pitkänen, Kimmo Palin, Niko Välimäki, Netta Mäkinen, Lauri A Aaltonen

Publikováno v: PLoS Genetics, Vol 14, Iss 3, p e1007200 (2018)

Small bowel adenocarcinoma (SBA) is an aggressive disease with limited treatment options. Despite previous studies, its molecular genetic background has remained somewhat elusive. To comprehensively characterize the mutational landscape of this tumor

Externí odkaz: https://doaj.org/article/52a0787cbdd2476e9bf29a7804fc6c88

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

Autor: Fredrick R. Schumacher, Pekka Jousilahti, Antti-Pekka Sarin, Veikko Salomaa, Heikki Järvinen, Salma M. Wakil, Anna Lepistö, Jukka-Pekka Mecklin, Graham Casey, Jan Böhm, Tim Maughan, Ian Tomlinson, Ella Barclay, Lauri A. Aaltonen, Ulrika A. Hänninen, Harry Campbell, Niko Välimäki, Aung Ko Win, Alexandra E. Gylfe, David V. Conti, Tomas Tanskanen, Jeremy Peter Cheadle, Albert Tenesa, Nada Al-Tassan, Eivind Ness-Jensen, Linda van den Berg, David J. Kerr, Samuli Ripatti, Steve Gallinger, Daniel D. Buchanan, Claire Palles, Eero Pukkala, Elinor Bexe Lindskog, Rachel Kerr, Lynn Martin, Susan M. Farrington, Richard Kaplan, Kaisa Silander, Shelley Idziaszczyk, Andres Metspalu, Tatiana Cajuso, Mark A. Jenkins, Sari Tuupanen, Laura Renkonen-Sinisalo, Kristian Hveem, Brian F. Meyer, Mervi Aavikko, Polly A. Newcomb, Malcolm G. Dunlop, Aarno Palotie, Neeme Tõnisson, Kimmo Palin, Yvonne Wettergren, John L. Hopper, Giulia Orlando, Christopher Smith, Philip J. Law, Maria Timofeeva, Richard S. Houlston, Johanna Kondelin

Publikováno v: Tanskanen, T, van den Berg, L M, Välimäki, N, Aavikko, M, Ness-Jensen, E, Hveem, K, Wettergen, Y, Bexe Lindskog, E, Tonisson, N, Metspalu, A, Silander, K, Orlando, G, Law, P J, Tuupanen, S, Gylfe, A, Hanninen, U A, Cajuso, T, Kondelin, J, Sarin, A-P, Pukkala, E, Jousilahti, P, Salomaa, V, Ripatti, S, Palotie, A, Järvinen, H, Renkonen-Sinisalo, L, Lepisto, A, Bohm, J, Mecklin, J-P, Al-Tassan, N A, Palles, C, Martin, L, Barclay, E, Tenesa, A, Farrington, S, Timofeeva, M, Meyer, B F, Wakil, S M, Campbell, H, Smith, C G, Idziaszczyk, S, Maughan, T, Kaplan, R, Kerr, R, Kerr, D, Buchanan, D D, Win, A K, Hopper, J L, Jenkins, M C, Newcomb, P, Gallinger, S, Conti, D, Schumacher, F, Casey, G, Cheadle, J P, Dunlop, M, Tomlinson, I P M, Houlston, R S, Palin, K & Aaltonen, L A 2017, ' Genome-wide asociation study and meta-analysis in Northrn European populations replicate multiple colorectal cancer risk loci : GWAS and meta-analysis of CRC ', International Journal of Cancer, vol. 142, no. 3, pp. 540-546 . https://doi.org/10.1002/ijc.31076

Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer, but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm reported associations, we conducted a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d9574bee520a5afc6a67baf31a985e7
https://doi.org/10.1002/ijc.31076

Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

Autor: Riku Katainen, Lauri A. Aaltonen, Ari Ristimäki, Ulrika A. Hänninen, Esa Pitkänen, Aurora Taira, Linda M. Forsström, Tomas Tanskanen, Selja Koskensalo, Niko Välimäki, Laura Renkonen-Sinisalo, Johanna Kondelin, Eevi Kaasinen, Outi Kilpivaara, Teijo Kuopio, Anna Lepistö, Jukka-Pekka Mecklin, Jan Böhm, Tatiana Cajuso, Mervi Aavikko, Päivi Sulo, Kimmo Palin, Toni T. Seppälä

Publikováno v: Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)

Genomic instability pathways in colorectal cancer (CRC) have been extensively studied, but the role of retrotransposition in colorectal carcinogenesis remains poorly understood. Although retrotransposons are usually repressed, they become active in s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8998dfee8806250d53911716f8a6b7b
https://doi.org/10.1101/443580

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer

Autor: Riku Katainen, Lauri A. Aaltonen, Xiaonan Liu, Emmanouil T. Dermitzakis, Outi Kilpivaara, Alexandra E. Gylfe, Eevi Kaasinen, Minna Taipale, Esa Pitkänen, Jussi Taipale, Kristian Ovaska, Sari Tuupanen, Lilli Saarinen, Halit Ongen, Heikki Ristolainen, Pia Vahteristo, Kimmo Palin, Laura Renkonen-Sinisalo, Selja Koskensalo, Ulrika A. Hänninen, Jan Böhm, Anna Lepistö, Jiri Hamberg, Johanna Kondelin, Heli Rauanheimo, Jukka-Pekka Mecklin, Niko Välimäki, Mikko P. Turunen, Tomas Tanskanen, Sampsa Hautaniemi, Kari Salokas, Auli Karhu, Roosa-Maria Plaketti, Leena Yadav, Tatiana Cajuso, Markku Varjosalo, Mervi Aavikko

Publikováno v: EMBO Molecular Medicine, Vol 10, Iss 9, Pp n/a-n/a (2018)
EMBO Molecular Medicine, Vol. 10, No 9 (2018) P. e8552
EMBO Molecular Medicine

Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::953f75f6fbc45f190b7b1acf46bc547e
http://hdl.handle.net/10138/299729

Contribution of allelic imbalance to colorectal cancer

Autor: Aurora Taira, Emmanouil T. Dermitzakis, Sandeep Kumar Botla, Jussi Taipale, Päivi Sulo, Ulrika A. Hänninen, Bernhard Schmierer, Roosa-Maria Plaketti, Kashyap Dave, Niko Välimäki, Tatiana Cajuso, Torben F. Ørntoft, Anna Vähärautio, Päivi Pihlajamaa, Mervi Aavikko, Maria Sokolova, Halit Ongen, Sari Tuupanen, Johanna Kondelin, Outi Kilpivaara, Anna Lepistö, Kornelia Gladysz, Jukka-Pekka Mecklin, Esa Pitkänen, Eevi Kaasinen, Heli Rauanheimo, Marta Grau, Lauri A. Aaltonen, Mikko P. Turunen, Ari Ristimäki, Linda van den Berg, Riku Katainen, Tuomo Hartonen, Jesper B. Bramsen, Claus L. Andersen, Teemu Kivioja, Tomas Tanskanen, Kimmo Palin, Biswajyoti Sahu, Laura Renkonen-Sinisalo

Publikováno v: Palin, K, Pitkänen, E, Turunen, M, Sahu, B, Pihlajamaa, P, Kivioja, T, Kaasinen, E, Välimäki, N, Hänninen, U A, Cajuso, T, Aavikko, M, Tuupanen, S, Kilpivaara, O, van den Berg, L, Kondelin, J, Tanskanen, T, Katainen, R, Grau, M, Rauanheimo, H, Plaketti, R-M, Taira, A, Sulo, P, Hartonen, T, Dave, K, Schmierer, B, Botla, S, Sokolova, M, Vähärautio, A, Gladysz, K, Ongen, H, Dermitzakis, E, Bramsen, J B, Ørntoft, T F, Andersen, C L, Ristimäki, A, Lepistö, A, Renkonen-Sinisalo, L, Mecklin, J-P, Taipale, J & Aaltonen, L A 2018, ' Contribution of allelic imbalance to colorectal cancer ', Nature Communications, vol. 9, 3664 . https://doi.org/10.1038/s41467-018-06132-1
Nature Communications, Vol 9, Iss 1, Pp 1-9 (2018)
Nature Communications
Nature Communications, Vol. 9, No 1 (2018) P. 3664

Point mutations in cancer have been extensively studied but chromosomal gains and losses have been more challenging to interpret due to their unspecific nature. Here we examine high-resolution allelic imbalance (AI) landscape in 1699 colorectal cance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12af55a05ccaa6e0100715add27700fa
http://urn.fi/URN:NBN:fi:jyu-201809174145