Katri Pylkäs

Katri Pylkäs

PhD

Academy Research Fellow, Coordinator of Biocenter Sequencing Center
Cancer Genetics

103 peer reviewed publications in international journals. The publications have been cited 3015 times, of which the most cited publication accounts for 521 citations. The author has a h-index of 31.00. (Scopus)

Biography

Katri Pylkäs works as Academy Research Fellow in the Cancer and translational medicine research unit, and coordinates Biocenter Oulu Sequencing center.

Research interests

  • Genetic predisposition to breast cancer
  • Molecular mechanisms behind cancer predisposing mutations
  • Translation of genetic information to improve healthcare outcomes of individuals at high risk of cancer

Databases

Scientific merits

  • PhD, 2007, Department of Clinical Genetics, Faculty of Medicine, University of Oulu
  • Docent in Cancer genetics, 2013, Faculty of Medicine, University of Oulu

Selected publications

  • Mantere, Tuomo; Winqvist, Robert; Kauppila, Saila; Grip, Mervi; Jukkola-Vuorinen, Arja; Tervasmäki, Anna; Rapakko, Katrin; Pylkäs, Katri (2016) Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility. - PLoS Genetics 12 (1), e1005816 . [Original]
  • Tervasmäki, Anna; Mantere, Tuomo; Hartikainen, Jaana M.; Kauppila, Saila; Lee, Hang-Mao; Koivuluoma, Susanna; Grip, Mervi; Karihtala, Peeter; Jukkola-Vuorinen, Arja; Mannermaa, Arto; Winqvist, Robert; Pylkäs, Katri (2018) Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer. - International journal of cancer 142 (11), 2286-2292 . [Original]
  • Mantere, Tuomo; Tervasmäki, Anna; Nurmi, Anna; Rapakko, Katrin; Kauppila, Saila; Tang, Jiangbo; Schleutker, Johanna; Kallioniemi, Anne; Hartikainen, Jaana M.; Mannermaa, Arto; Nieminen, Pentti; Hanhisalo, Riitta; Lehto, Sini; Suvanto, Maija; Grip, Mervi; Jukkola-Vuorinen, Arja; Tengström, Maria; Auvinen, Päivi; Kvist, Anders; Borg, Åke (2017) Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility. - Scientific Reports 7, 681 . http://dx.doi.org/10.1038/s41598-017-00766-9. [Original] [Self-archived]
  • Pylkäs K; Vuorela M; Otsukka M; Kallioniemi A; Jukkola-Vuorinen A; Winqvist R (2012) Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network. - PLoS Genetics 8 (6), e1002734 . [Original]
  • Antoniou, A. C.; Casadei, S.; Heikkinen, T.; Barrowdale, D.; Pylkäs, K.; Roberts, J.; Lee, A.; Subramanian, D.; De Leeneer, K.; Fostira, F.; Tomiak, E.; Neuhausen, S. L.; Teo, Z. L.; Khan, S.; Aittomäki, K.; Moilanen, J. S.; Turnbull, C.; Seal, S.; Mannermaa, A.; Kallioniemi, A.; Lindeman, G. J.; Buys, S. S.; Andrulis, I. L.; Radice, P.; Tondini, C.; Manoukian, S.; Toland, A. E.; Miron, P.; Weitze (2014) Breast-cancer risk in families with mutations in PALB2. - New England Journal of Medicine 371 (6), 497-506
  • Nikkilä, Jenni; Parplys, Ann Christin; Pylkäs, Katri; Bose, Muthiah; Huo, Yanying; Borgmann, Kerstin; Rapakko, Katrin; Nieminen, Pentti; Xia, Bing; Pospiech, Helmut; Winqvist, Robert (2013) Heterozygous mutations in PALB2 cause DNA replication and damage response defects. - Nature Communications 4, 2578 . [Original]
  • Solyom S; Aressy B; Pylkäs K; Patterson-Fortin J; Hartikainen JM; Kallioniemi A; Kauppila S; Nikkilä J; Kosma VM; Mannermaa A; Greenberg RA; Winqvist R (2012) Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions. - Science Translational Medicine 4 (122), 122ra23
  • Pylkäs, Katri; Tommiska, J.; Syrjäkoski, K.; Kere, J.; Gatei, M.; Waddell, N.; Allinen, M.; Karppinen, Sanna-Maria; Rapakko, Katrin et al.; Mustonen, Aki; Winqvist, Robert (2007) Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer. - Carcinogenesis 28, 1040-1045
  • Heikinen, Katri; Rapakko, Katrin; Karppinen, Sanna-Maria; Erkko, Hannele, Knuutila, S.; Lundan, Tuija; Mannermaa, Arto; Börresen, A-L. et al.; Winqvist, Robert (2006) RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. - Carcinogenesis 27 (8), 1593-1599

Research visits

  • Visiting scientist, Sigrid Jusélius Fellowship

    Abramson Family Cancer Research Institute, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia