Katrin Rapakko

University of Lausanne — Switzerland

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index1.3kcitations32works0.02yr avg
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Research Topics

DNA Repair Mechanisms(17), BRCA gene mutations in cancer(16), Cancer-related Molecular Pathways(7), Chronic Lymphocytic Leukemia Research(6), Chronic Myeloid Leukemia Treatments(5)

Publications32 total

Refined cytogenetic <scp>IPSS‐R</scp> evaluation by the use of <scp>SNP</scp> array in a cohort of 290 <scp>MDS</scp> patients
Genes Chromosomes and Cancer·2023· 2 citedOpen Access
BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells
Human Molecular Genetics·2019· 8 citedOpen Access
Mutation of TP53, translocation analysis and immunohistochemical expression of MYC, BCL-2 and BCL-6 in patients with DLBCL treated with R-CHOP
Scientific Reports·2018· 30 citedOpen Access
Abstract 339: Heterozygous germline mutation in <i>ABRAXAS</i> causes BRCA1 mislocalization and DNA damage response defects
Cancer Research·2018
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility
Scientific Reports·2017· 34 citedOpen Access
Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility
PLoS Genetics·2016· 25 citedOpen Access
Heterozygous mutations in PALB2 cause DNA replication and damage response defects
Nature Communications·2013· 75 citedOpen Access
Impact of malignant stem cell burden on therapy outcome in newly diagnosed chronic myeloid leukemia patients
Leukemia·2013· 65 cited
Favorable Therapeutic Responses in Newly Diagnosed CML-CP Patients Induced by Dasatinib Are Reflected At the CD34+CD38+ Progenitor Cell but Not At the CD34+CD38− Stem Cell Level: Results From Randomized NordCML006 Study
Blood·2011· 2 cited
Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family
Cancer Letters·2011· 28 cited
The Proportion of Ph+ CD34+CD38neg Leukemic Stem Cells In the Bone Marrow of Newly Diagnosed Patients with Chronic Myeloid Leukemia (CML) In Chronic Phase (CP) Is Variable and Correlates with High Sokal Risk, High Leukocyte Count, Low Hemoglobin Concentration, Splenomegaly and Increased Hematological Toxicity During Initial TKI-Therapy. Data From a Randomized Phase II NordCML006 Study
Blood·2010
Low or undetectable numbers of Philadelphia chromosome-positive leukemic stem cells (Ph+CD34+CD38neg) in chronic myeloid leukemia patients in complete cytogenetic remission after tyrosine kinase inhibitor therapy
Leukemia·2009· 19 cited
Low or Undetectable Numbers of Philadelphia Chromosome Positive (Ph+) Leukemia Cells in the Primitive (CD34posCD38neg) Stem Cell Fraction in Chronic Myeloid Leukemia (CML) Patients during Tyrosine Kinase Inhibitor Therapy.
Blood·2008
Clinical first-trimester routine screening for Down syndrome in singleton pregnancies in northern Finland
American Journal of Obstetrics and Gynecology·2007· 9 cited
A recurrent mutation in PALB2 in Finnish cancer families
Nature·2007· 457 cited
Hereditary predisposition to breast cancer—evaluation of candidate genes
2007· 3 cited
Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer
Carcinogenesis·2006· 28 citedOpen Access
Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer
European Journal of Cancer·2006· 41 cited
Nordic collaborative study of the <i>BARD1</i> Cys557Ser allele in 3956 patients with cancer: enrichment in familial <i>BRCA1</i>/<i>BRCA2</i> mutation-negative breast cancer but not in other malignancies
Journal of Medical Genetics·2006· 44 citedOpen Access
Germline alterations in the 53BP1 gene in breast and ovarian cancer families
Cancer Letters·2006· 14 cited
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Frequent Co-authors

Robert Winqvist(22), Sanna‐Maria Karppinen(10), Heli Nevanlinna(10), Katri Pylkäs(9), Katri Heikkinen(7), Hannele Erkko(6), Kirsi Syrjäkoski(6), Pia Huusko(6), Olli Kallioniemi(6), Pentti Nieminen(6), Minna Allinen(6), Hannaleena Eerola(5), Tommi Kainu(5), Pia Vahteristo(5), Carl Blomqvist(5), Satu Mustjoki(5), Perttu Koskenvesa(5), Kimmo Porkka(5), Mervi Grip(4), Juha Kere(4)