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

Sex-specific familial aggregation of cancers in Finland

by Lauri J. Sipilä, Karri Seppä, Mervi Aavikko, Janne Ravantti, Sanna Heikkinen, Lauri A. Aaltonen, Janne Pitkäniemi
Published 2022-09-01

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

Vitamin C boosts DNA demethylation in TET2 germline mutation carriers

by Aurora Taira, Kimmo Palin, Anna Kuosmanen, Niko Välimäki, Outi Kuittinen, Outi Kuismin, Eevi Kaasinen, Kristiina Rajamäki, Lauri A. Aaltonen
Published 2023-01-01

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

Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping

by Prima Sanjaya, Katri Maljanen, Riku Katainen, Sebastian M. Waszak, Genomics England Research Consortium, Lauri A. Aaltonen, Oliver Stegle, Jan O. Korbel, Esa Pitkänen
Published 2023-07-01

Genome-wide somatic mutation analysis of sinonasal adenocarcinoma with and without wood dust exposure

by Lauri J. Sipilä, Riku Katainen, Mervi Aavikko, Janne Ravantti, Iikki Donner, Rainer Lehtonen, Ilmo Leivo, Henrik Wolff, Reetta Holmila, Kirsti Husgafvel-Pursiainen, Lauri A. Aaltonen
Published 2024-05-01

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

Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland

by Riikka Nurminen, Ebrahim Afyounian, Niina Paunu, Riku Katainen, Mari Isomäki, Anssi Nurminen, Mauro Scaravilli, Jenni Tolppanen, Vidal Fey, Anni Kivinen, Pauli Helén, Niko Välimäki, Juha Kesseli, Lauri A. Aaltonen, Hannu Haapasalo, Matti Nykter, Kirsi J. Rautajoki
Published 2024-05-01

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

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

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

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