Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

by Elina A. M. Hirvonen, Esa Pitkänen, Kari Hemminki, Lauri A. Aaltonen, Outi Kilpivaara
Published 2017-04-01

Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.

by Hu Fang, Jayne A Barbour, Rebecca C Poulos, Riku Katainen, Lauri A Aaltonen, Jason W H Wong
Published 2020-02-01

Prognostic Value of Immune Environment Analysis in Small Bowel Adenocarcinomas with Verified Mutational Landscape and Predisposing Conditions

by Erkki-Ville Wirta, Säde Szeto, Ulrika Hänninen, Maarit Ahtiainen, Jan Böhm, Jukka-Pekka Mecklin, Lauri A. Aaltonen, Toni T. Seppälä
Published 2020-07-01

Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing

by Barun Pradhan, Tatiana Cajuso, Riku Katainen, Päivi Sulo, Tomas Tanskanen, Outi Kilpivaara, Esa Pitkänen, Lauri A. Aaltonen, Liisa Kauppi, Kimmo Palin
Published 2017-11-01

Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei.

by Lilli Saarinen, Pirjo Nummela, Alexandra Thiel, Rainer Lehtonen, Petrus Järvinen, Heikki Järvinen, Lauri A Aaltonen, Anna Lepistö, Sampsa Hautaniemi, Ari Ristimäki
Published 2017-01-01

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas

by Hanna-Riikka Heinonen, Annukka Pasanen, Oskari Heikinheimo, Tomas Tanskanen, Kimmo Palin, Jaana Tolvanen, Pia Vahteristo, Jari Sjöberg, Esa Pitkänen, Ralf Bützow, Netta Mäkinen, Lauri A. Aaltonen
Published 2017-04-01

Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.

by Eevi Kaasinen, Mervi Aavikko, Pia Vahteristo, Toni Patama, Yilong Li, Silva Saarinen, Outi Kilpivaara, Esa Pitkänen, Paul Knekt, Maarit Laaksonen, Miia Artama, Rainer Lehtonen, Lauri A Aaltonen, Eero Pukkala
Published 2013-01-01

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

by 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
Published 2018-03-01

Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability

by Niko Välimäki, Heli Kuisma, Annukka Pasanen, Oskari Heikinheimo, Jari Sjöberg, Ralf Bützow, Nanna Sarvilinna, Hanna-Riikka Heinonen, Jaana Tolvanen, Simona Bramante, Tomas Tanskanen, Juha Auvinen, Outi Uimari, Amjad Alkodsi, Rainer Lehtonen, Eevi Kaasinen, Kimmo Palin, Lauri A Aaltonen
Published 2018-09-01

Eleven candidate susceptibility genes for common familial colorectal cancer.

by Alexandra E Gylfe, Riku Katainen, Johanna Kondelin, Tomas Tanskanen, Tatiana Cajuso, Ulrika Hänninen, Jussi Taipale, Minna Taipale, Laura Renkonen-Sinisalo, Heikki Järvinen, Jukka-Pekka Mecklin, Outi Kilpivaara, Esa Pitkänen, Pia Vahteristo, Sari Tuupanen, Auli Karhu, Lauri A Aaltonen
Published 2013-01-01

Uterine Leiomyoma-Linked MED12 Mutations Disrupt Mediator-Associated CDK Activity

by Mikko Turunen, Jason M. Spaeth, Salla Keskitalo, Min Ju Park, Teemu Kivioja, Alison D. Clark, Netta Mäkinen, Fangjian Gao, Kimmo Palin, Helka Nurkkala, Anna Vähärautio, Mervi Aavikko, Kati Kämpjärvi, Pia Vahteristo, Chongwoo A. Kim, Lauri A. Aaltonen, Markku Varjosalo, Jussi Taipale, Thomas G. Boyer
Published 2014-05-01

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

by Alan M Pittman, Silvia Naranjo, Sanni E Jalava, Philip Twiss, Yussanne Ma, Bianca Olver, Amy Lloyd, Jayaram Vijayakrishnan, Mobshra Qureshi, Peter Broderick, Tom van Wezel, Hans Morreau, Sari Tuupanen, Lauri A Aaltonen, M Eva Alonso, Miguel Manzanares, Angela Gavilán, Tapio Visakorpi, José Luis Gómez-Skarmeta, Richard S Houlston
Published 2010-09-01

Parity associates with chromosomal damage in uterine leiomyomas

by Heli Kuisma, Simona Bramante, Kristiina Rajamäki, Lauri J. Sipilä, Eevi Kaasinen, Jaana Kaukomaa, Kimmo Palin, Netta Mäkinen, Jari Sjöberg, Nanna Sarvilinna, Jussi Taipale, Liisa Kauppi, Manuela Tumiati, Antti Hassinen, Janne Pitkäniemi, Jyrki Jalkanen, Sanna Heikkinen, Annukka Pasanen, Oskari Heikinheimo, Ralf Bützow, Niko Välimäki, Lauri A. Aaltonen
Published 2021-09-01

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

by Tatiana Cajuso, Päivi Sulo, Tomas Tanskanen, Riku Katainen, Aurora Taira, Ulrika A. Hänninen, Johanna Kondelin, Linda Forsström, Niko Välimäki, Mervi Aavikko, Eevi Kaasinen, Ari Ristimäki, Selja Koskensalo, Anna Lepistö, Laura Renkonen-Sinisalo, Toni Seppälä, Teijo Kuopio, Jan Böhm, Jukka-Pekka Mecklin, Outi Kilpivaara, Esa Pitkänen, Kimmo Palin, Lauri A. Aaltonen
Published 2019-09-01

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

by Eevi Kaasinen, Outi Kuismin, Kristiina Rajamäki, Heikki Ristolainen, Mervi Aavikko, Johanna Kondelin, Silva Saarinen, Davide G. Berta, Riku Katainen, Elina A. M. Hirvonen, Auli Karhu, Aurora Taira, Tomas Tanskanen, Amjad Alkodsi, Minna Taipale, Ekaterina Morgunova, Kaarle Franssila, Rainer Lehtonen, Markus Mäkinen, Kristiina Aittomäki, Aarno Palotie, Mitja I. Kurki, Olli Pietiläinen, Morgane Hilpert, Elmo Saarentaus, Jaakko Niinimäki, Juhani Junttila, Kari Kaikkonen, Pia Vahteristo, Radek C. Skoda, Mikko R. J. Seppänen, Kari K. Eklund, Jussi Taipale, Outi Kilpivaara, Lauri A. Aaltonen
Published 2019-03-01

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

by Johanna Kondelin, Kari Salokas, Lilli Saarinen, Kristian Ovaska, Heli Rauanheimo, Roosa‐Maria Plaketti, Jiri Hamberg, Xiaonan Liu, Leena Yadav, Alexandra E Gylfe, Tatiana Cajuso, Ulrika A Hänninen, Kimmo Palin, Heikki Ristolainen, Riku Katainen, Eevi Kaasinen, Tomas Tanskanen, Mervi Aavikko, Minna Taipale, Jussi Taipale, Laura Renkonen‐Sinisalo, Anna Lepistö, Selja Koskensalo, Jan Böhm, Jukka‐Pekka Mecklin, Halit Ongen, Emmanouil T Dermitzakis, Outi Kilpivaara, Pia Vahteristo, Mikko Turunen, Sampsa Hautaniemi, Sari Tuupanen, Auli Karhu, Niko Välimäki, Markku Varjosalo, Esa Pitkänen, Lauri A Aaltonen
Published 2018-09-01

Contribution of allelic imbalance to colorectal cancer

by Kimmo Palin, Esa Pitkänen, Mikko Turunen, Biswajyoti Sahu, Päivi Pihlajamaa, Teemu Kivioja, Eevi Kaasinen, Niko Välimäki, Ulrika A. Hänninen, Tatiana Cajuso, Mervi Aavikko, Sari Tuupanen, Outi Kilpivaara, Linda van den Berg, Johanna Kondelin, Tomas Tanskanen, Riku Katainen, Marta Grau, Heli Rauanheimo, Roosa-Maria Plaketti, Aurora Taira, Päivi Sulo, Tuomo Hartonen, Kashyap Dave, Bernhard Schmierer, Sandeep Botla, Maria Sokolova, Anna Vähärautio, Kornelia Gladysz, Halit Ongen, Emmanouil Dermitzakis, Jesper Bertram Bramsen, Torben Falck Ørntoft, Claus Lindbjerg Andersen, Ari Ristimäki, Anna Lepistö, Laura Renkonen-Sinisalo, Jukka-Pekka Mecklin, Jussi Taipale, Lauri A. Aaltonen
Published 2018-09-01

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.

by Ian P M Tomlinson, Luis G Carvajal-Carmona, Sara E Dobbins, Albert Tenesa, Angela M Jones, Kimberley Howarth, Claire Palles, Peter Broderick, Emma E M Jaeger, Susan Farrington, Annabelle Lewis, James G D Prendergast, Alan M Pittman, Evropi Theodoratou, Bianca Olver, Marion Walker, Steven Penegar, Ella Barclay, Nicola Whiffin, Lynn Martin, Stephane Ballereau, Amy Lloyd, Maggie Gorman, Steven Lubbe, COGENT Consortium, CORGI Collaborators, EPICOLON Consortium, Bryan Howie, Jonathan Marchini, Clara Ruiz-Ponte, Ceres Fernandez-Rozadilla, Antoni Castells, Angel Carracedo, Sergi Castellvi-Bel, David Duggan, David Conti, Jean-Baptiste Cazier, Harry Campbell, Oliver Sieber, Lara Lipton, Peter Gibbs, Nicholas G Martin, Grant W Montgomery, Joanne Young, Paul N Baird, Steven Gallinger, Polly Newcomb, John Hopper, Mark A Jenkins, Lauri A Aaltonen, David J Kerr, Jeremy Cheadle, Paul Pharoah, Graham Casey, Richard S Houlston, Malcolm G Dunlop
Published 2011-06-01

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

by Philip J. Law, Maria Timofeeva, Ceres Fernandez-Rozadilla, Peter Broderick, James Studd, Juan Fernandez-Tajes, Susan Farrington, Victoria Svinti, Claire Palles, Giulia Orlando, Amit Sud, Amy Holroyd, Steven Penegar, Evropi Theodoratou, Peter Vaughan-Shaw, Harry Campbell, Lina Zgaga, Caroline Hayward, Archie Campbell, Sarah Harris, Ian J. Deary, John Starr, Laura Gatcombe, Maria Pinna, Sarah Briggs, Lynn Martin, Emma Jaeger, Archana Sharma-Oates, James East, Simon Leedham, Roland Arnold, Elaine Johnstone, Haitao Wang, David Kerr, Rachel Kerr, Tim Maughan, Richard Kaplan, Nada Al-Tassan, Kimmo Palin, Ulrika A. Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Johan G. Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Daniel D. Buchanan, Aung-Ko Win, John Hopper, Mark E. Jenkins, Noralane M. Lindor, Polly A. Newcomb, Steven Gallinger, David Duggan, Graham Casey, Per Hoffmann, Markus M. Nöthen, Karl-Heinz Jöckel, Douglas F. Easton, Paul D. P. Pharoah, Julian Peto, Federico Canzian, Anthony Swerdlow, Rosalind A. Eeles, Zsofia Kote-Jarai, Kenneth Muir, Nora Pashayan, The PRACTICAL consortium, Andrea Harkin, Karen Allan, John McQueen, James Paul, Timothy Iveson, Mark Saunders, Katja Butterbach, Jenny Chang-Claude, Michael Hoffmeister, Hermann Brenner, Iva Kirac, Petar Matošević, Philipp Hofer, Stefanie Brezina, Andrea Gsur, Jeremy P. Cheadle, Lauri A. Aaltonen, Ian Tomlinson, Richard S. Houlston, Malcolm G. Dunlop
Published 2019-05-01