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Mutational signatures and their association with cancer survival and gene expression in multiple cancer types.
Published in:
International Journal of Cancer, 2025, v. 156, n. 1, p. 114, doi. 10.1002/ijc.35148
By:
- Karihtala, Peeter;
- Kilpivaara, Outi;
- Porvari, Katja
Publication type:
Article
Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.
Published in:
Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0102-x
By:
- Hirvonen, Elina A. M.;
- Pitkänena, Esa;
- Hemminki, Kari;
- Aaltonen, Lauri A.;
- Kilpivaara, Outi
Publication type:
Article
Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14364-x
By:
- Douglas, Suvi P. M.;
- Lahtinen, Atte K.;
- Koski, Jessica R.;
- Leimi, Lilli;
- Keränen, Mikko A. I.;
- Koskenvuo, Minna;
- Heckman, Caroline A.;
- Jahnukainen, Kirsi;
- Pitkänen, Esa;
- Wartiovaara-Kautto, Ulla;
- Kilpivaara, Outi
Publication type:
Article
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
Published in:
British Journal of Haematology, 2022, v. 199, n. 5, p. 754, doi. 10.1111/bjh.18466
By:
- Armes, Hannah;
- Bewicke‐Copley, Findlay;
- Rio‐Machin, Ana;
- Di Bella, Doriana;
- Philippe, Céline;
- Wozniak, Anna;
- Tummala, Hemanth;
- Wang, Jun;
- Ezponda, Teresa;
- Prosper, Felipe;
- Dokal, Inderjeet;
- Vulliamy, Tom;
- Kilpivaara, Outi;
- Wartiovaara‐Kautto, Ulla;
- Fitzgibbon, Jude;
- Rouault‐Pierre, Kevin
Publication type:
Article
Familial aggregation of early‐onset haematological malignancies.
Published in:
British Journal of Haematology, 2021, v. 193, n. 6, p. 1134, doi. 10.1111/bjh.17477
By:
- Rönkkö, Rosa;
- Hirvonen, Elli;
- Malila, Nea;
- Kilpivaara, Outi;
- Wartiovaara‐Kautto, Ulla;
- Pitkäniemi, Janne
Publication type:
Article
Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing.
Published in:
British Journal of Haematology, 2015, v. 170, n. 3, p. 428, doi. 10.1111/bjh.13295
By:
- Ristolainen, Heikki;
- Kilpivaara, Outi;
- Kamper, Peter;
- Taskinen, Minna;
- Saarinen, Silva;
- Leppä, Sirpa;
- d'Amore, Francesco;
- Aaltonen, Lauri A.
Publication type:
Article
CTCF/cohesin-binding sites are frequently mutated in cancer.
Published in:
Nature Genetics, 2015, v. 47, n. 7, p. 818, doi. 10.1038/ng.3335
By:
- Katainen, Riku;
- Pitkänen, Esa;
- Palin, Kimmo;
- Välimäki, Niko;
- Gylfe, Alexandra E;
- Ristolainen, Heikki;
- Hänninen, Ulrika A;
- Cajuso, Tatiana;
- Kondelin, Johanna;
- Tanskanen, Tomas;
- Kaasinen, Eevi;
- Kilpivaara, Outi;
- Tuupanen, Sari;
- Aaltonen, Lauri A;
- Dave, Kashyap;
- Enge, Martin;
- Kivioja, Teemu;
- Mecklin, Jukka-Pekka;
- Järvinen, Heikki;
- Lepistö, Anna
Publication type:
Article
A germline JAK2 SNP is associated with predisposition to the development of JAK2<sup>V617F</sup>-positive myeloproliferative neoplasms.
Published in:
Nature Genetics, 2009, v. 41, n. 4, p. 455, doi. 10.1038/ng.342
By:
- Kilpivaara, Outi;
- Mukherjee, Semanti;
- Schram, Alison M.;
- Wadleigh, Martha;
- Mullally, Ann;
- Ebert, Benjamin L.;
- Bass, Adam;
- Marubayashi, Sachie;
- Heguy, Adriana;
- Garcia-Manero, Guillermo;
- Kantarjian, Hagop;
- Offit, Kenneth;
- Stone, Richard M.;
- Gilliland, D Gary;
- Klein, Robert J.;
- Levine, Ross L.
Publication type:
Article
NAD(P)H:quinone oxidoreductase 1 NQO1<sup>*</sup>2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer.
Published in:
Nature Genetics, 2008, v. 40, n. 7, p. 844, doi. 10.1038/ng.155
By:
- Fagerholm, Rainer;
- Hofstetter, Barbara;
- Tommiska, Johanna;
- Aaltonen, Kirsimari;
- Vrtel, Radek;
- Syrjäkoski, Kirsi;
- Kallioniemi, Anne;
- Kilpivaara, Outi;
- Mannermaa, Arto;
- Kosma, Veli-Matti;
- Uusitupa, Matti;
- Eskelinen, Matti;
- Kataja, Vesa;
- Aittomäki, Kristiina;
- von Smitten, Karl;
- Heikkilä, Päivi;
- Lukas, Jiri;
- Holli, Kaija;
- Bartkova, Jirina;
- Blomqvist, Carl
Publication type:
Article
Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing.
Published in:
Scientific Reports, 2017, v. 7, n. 1, p. 1, doi. 10.1038/s41598-017-15076-3
By:
- Pradhan, Barun;
- Cajuso, Tatiana;
- Katainen, Riku;
- Sulo, Päivi;
- Tanskanen, Tomas;
- Kilpivaara, Outi;
- Pitkänen, Esa;
- Aaltonen, Lauri A.;
- Kauppi, Liisa;
- Palin, Kimmo
Publication type:
Article
Nationwide Registry-Based Analysis of Cancer Clustering Detects Strong Familial Occurrence of Kaposi Sarcoma.
Published in:
PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055209
By:
- Kaasinen, Eevi;
- Aavikko, Mervi;
- Vahteristo, Pia;
- Patama, Toni;
- Yilong Li;
- Saarinen, Silva;
- Kilpivaara, Outi;
- Pitkänen, Esa;
- Knekt, Paul;
- Laaksonen, Maarit;
- Artama, Miia;
- Lehtonen, Rainer;
- Aaltonen, Lauri A.;
- Pukkala, Eero
Publication type:
Article
Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-11770-0
By:
- Cajuso, Tatiana;
- Sulo, Päivi;
- Tanskanen, Tomas;
- Katainen, Riku;
- Taira, Aurora;
- Hänninen, Ulrika A.;
- Kondelin, Johanna;
- Forsström, Linda;
- Välimäki, Niko;
- Aavikko, Mervi;
- Kaasinen, Eevi;
- Ristimäki, Ari;
- Koskensalo, Selja;
- Lepistö, Anna;
- Renkonen-Sinisalo, Laura;
- Seppälä, Toni;
- Kuopio, Teijo;
- Böhm, Jan;
- Mecklin, Jukka-Pekka;
- Kilpivaara, Outi
Publication type:
Article
DeepIFC: Virtual fluorescent labeling of blood cells in imaging flow cytometry data with deep learning.
Published in:
Cytometry. Part A, 2023, v. 103, n. 10, p. 807, doi. 10.1002/cyto.a.24770
By:
- Timonen, Veera A.;
- Kerkelä, Erja;
- Impola, Ulla;
- Penna, Leena;
- Partanen, Jukka;
- Kilpivaara, Outi;
- Arvas, Mikko;
- Pitkänen, Esa
Publication type:
Article
Rare variants in complement system genes associate with endothelial damage after pediatric allogeneic hematopoietic stem cell transplantation.
Published in:
Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1249958
By:
- Leimi, Lilli;
- Koski, Jessica R.;
- Kilpivaara, Outi;
- Vettenranta, Kim;
- Lokki, A. Inkeri;
- Meri, Seppo
Publication type:
Article
Breast tumors from CHEK2 1100delC- mutation carriers: genomic landscape and clinical implications.
Published in:
Breast Cancer Research, 2011, v. 13, n. 1, p. 1, doi. 10.1186/bcr3015
By:
- Muranen, Taru A;
- Greco, Dario;
- Fagerholm, Rainer;
- Kilpivaara, Outi;
- Kämpjärvi, Kati;
- Aittomäki, Kristiina;
- Blomqvist, Carl;
- Heikkilä, Päivi;
- Borg, Åke;
- Nevanlinna, Heli
Publication type:
Article
Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications.
Published in:
2011
By:
- Muranen, Taru A;
- Greco, Dario;
- Fagerholm, Rainer;
- Kilpivaara, Outi;
- Kämpjärvi, Kati;
- Aittomäki, Kristiina;
- Blomqvist, Carl;
- Heikkilä, Päivi;
- Borg, Ake;
- Nevanlinna, Heli
Publication type:
journal article
Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients.
Published in:
International Journal of Cancer, 2005, v. 113, n. 4, p. 575, doi. 10.1002/ijc.20638
By:
- Kilpivaara, Outi;
- Bartkova, Jirina;
- Eerola, Hannaleena;
- Syrjäkoski, Kirsi;
- Vahteristo, Pia;
- Lukas, Jiri;
- Blomqvist, Carl;
- Holli, Kaija;
- Heikkilä, Päivi;
- Sauter, Guido;
- Kallioniemi, Olli-Pekka;
- Bartek, Jiri;
- Nevanlinna, Heli
Publication type:
Article
CHEK2 variant I157T may be associated with increased breast cancer risk.
Published in:
International Journal of Cancer, 2004, v. 111, n. 4, p. 543, doi. 10.1002/ijc.20299
By:
- Kilpivaara, Outi;
- Vahteristo, Pia;
- Falck, Jacob;
- Syrjäkoski, Kirsi;
- Eerola, Hannaleena;
- Easton, Douglas;
- Bartkova, Jirina;
- Lukas, Jiri;
- Heikkilä, Päivi;
- Aittomäki, Kristiina;
- Holli, Kaija;
- Blomqvist, Carl;
- Kallioniemi, Olli-Pekka;
- Bartek, Jiri;
- Nevanlinna, Heli
Publication type:
Article
Mutational Signatures Associate With Survival in Gastrointestinal Carcinomas.
Published in:
Cancer Genomics & Proteomics (1109-6535), 2022, v. 19, n. 5, p. 556, doi. 10.21873/cgp.20340
By:
- KARIHTALA, PEETER;
- PORVARI, KATJA;
- KILPIVAARA, OUTI
Publication type:
Article
Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer.
Published in:
International Journal of Cancer, 2014, v. 135, n. 3, p. 611, doi. 10.1002/ijc.28705
By:
- Cajuso, Tatiana;
- Hänninen, Ulrika A.;
- Kondelin, Johanna;
- Gylfe, Alexandra E.;
- Tanskanen, Tomas;
- Katainen, Riku;
- Pitkänen, Esa;
- Ristolainen, Heikki;
- Kaasinen, Eevi;
- Taipale, Minna;
- Taipale, Jussi;
- Böhm, Jan;
- Renkonen‐Sinisalo, Laura;
- Mecklin, Jukka‐Pekka;
- Järvinen, Heikki;
- Tuupanen, Sari;
- Kilpivaara, Outi;
- Vahteristo, Pia
Publication type:
Article
Heterodimeric JAK-STAT activation as a mechanism of persistence to JAK2 inhibitor therapy.
Published in:
Nature, 2012, v. 489, n. 7414, p. 155, doi. 10.1038/nature11303
By:
- Koppikar, Priya;
- Bhagwat, Neha;
- Kilpivaara, Outi;
- Manshouri, Taghi;
- Adli, Mazhar;
- Hricik, Todd;
- Liu, Fan;
- Saunders, Lindsay M.;
- Mullally, Ann;
- Abdel-Wahab, Omar;
- Leung, Laura;
- Weinstein, Abby;
- Marubayashi, Sachie;
- Goel, Aviva;
- Gönen, Mithat;
- Estrov, Zeev;
- Ebert, Benjamin L.;
- Chiosis, Gabriela;
- Nimer, Stephen D.;
- Bernstein, Bradley E.
Publication type:
Article
Contribution of allelic imbalance to colorectal cancer.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06132-1
By:
- Palin, Kimmo;
- Pitkänen, Esa;
- Turunen, Mikko;
- Sahu, Biswajyoti;
- Pihlajamaa, Päivi;
- Kivioja, Teemu;
- Kaasinen, Eevi;
- Välimäki, Niko;
- Hänninen, Ulrika A.;
- Cajuso, Tatiana;
- Aavikko, Mervi;
- Tuupanen, Sari;
- Kilpivaara, Outi;
- van den Berg, Linda;
- Kondelin, Johanna;
- Tanskanen, Tomas;
- Katainen, Riku;
- Grau, Marta;
- Rauanheimo, Heli;
- Plaketti, Roosa-Maria
Publication type:
Article
Eleven Candidate Susceptibility Genes for Common Familial Colorectal Cancer.
Published in:
PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003876
By:
- Gylfe, Alexandra E.;
- Katainen, Riku;
- Kondelin, Johanna;
- Tanskanen, Tomas;
- Cajuso, Tatiana;
- Hänninen, Ulrika;
- Taipale, Jussi;
- Taipale, Minna;
- Renkonen-Sinisalo, Laura;
- Järvinen, Heikki;
- Mecklin, Jukka-Pekka;
- Kilpivaara, Outi;
- Pitkänen, Esa;
- Vahteristo, Pia;
- Tuupanen, Sari;
- Karhu, Auli;
- Aaltonen, Lauri A.
Publication type:
Article
A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families.
Published in:
EJHaem, 2022, v. 3, n. 4, p. 1352, doi. 10.1002/jha2.557
By:
- Hakkarainen, Marja;
- Koski, Jessica R.;
- Heckman, Caroline A.;
- Anttila, Pekka;
- Silvennoinen, Raija;
- Lievonen, Juha;
- Kilpivaara, Outi;
- Wartiovaara‐Kautto, Ulla
Publication type:
Article
Comprehensive analysis of NuMA variation in breast cancer.
Published in:
2008
By:
- Kilpivaara O;
- Rantanen M;
- Tamminen A;
- Aittomäki K;
- Blomqvist C;
- Nevanlinna H;
- Kilpivaara, Outi;
- Rantanen, Matias;
- Tamminen, Anitta;
- Aittomäki, Kristiina;
- Blomqvist, Carl;
- Nevanlinna, Heli
Publication type:
journal article
Comprehensive analysis of NuMA variation in breast cancer.
Published in:
BMC Cancer, 2008, v. 8, p. 1, doi. 10.1186/1471-2407-8-71
By:
- Kilpivaara, Outi;
- Rantanen, Matias;
- Tamminen, Anitta;
- Aittomäki, Kristiina;
- Blomqvist, Carl;
- Nevanlinna, Heli
Publication type:
Article
Combined effect of CCND1 and COMT polymorphisms and increased breast cancer risk.
Published in:
BMC Cancer, 2008, v. 8, p. 1, doi. 10.1186/1471-2407-8-6
By:
- Onay, Ummiye V.;
- Aaltonen, Kirsimari;
- Briollais, Laurent;
- Knight, Julia A.;
- Pabalan, Noel;
- Kilpivaara, Outi;
- Andrulis, Irene L.;
- Blomqvist, Carl;
- Nevanlinna, Heli;
- Ozcelik, Hilmi
Publication type:
Article
ATM variants and cancer risk in breast cancer patients from Southern Finland.
Published in:
BMC Cancer, 2006, v. 6, p. 1, doi. 10.1186/1471-2407-6-209
By:
- Johanna Tommiska;
- Laila Jansen;
- Outi Kilpivaara;
- Hege Edvardsen;
- Vessela Kristensen;
- Anitta Tamminen;
- Kristiina Aittomäki;
- Carl Blomqvist;
- Anne-Lise Børresen-Dale;
- Heli Nevanlinna
Publication type:
Article

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