Virpi Launonen

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. ncbi request reprint Mutations in the human LKB1/STK11 gene
    Virpi Launonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Hum Mutat 26:291-7. 2005
  2. pmc Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome
    P Alhopuro
    Department of Medical Genetics, Biomedicum Helsinki Haartmaninkatu 8, University of Helsinki, Helsinki FIN 00014, Finland
    Br J Cancer 92:1126-9. 2005
  3. doi request reprint No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome
    Pia Vahteristo
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Fam Cancer 9:245-51. 2010
  4. ncbi request reprint Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability
    Heli J Lehtonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Int J Cancer 121:1386-9. 2007
  5. ncbi request reprint Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma
    Sanna K Ylisaukko-oja
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 14:880-3. 2006
  6. ncbi request reprint Stress-induced expression of a novel variant of human fumarate hydratase (FH)
    Heli J Lehtonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Gene Expr 14:59-69. 2007
  7. ncbi request reprint Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients
    Sanna K Ylisaukko-oja
    Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, Haartmaninkatu 8, Finland
    Int J Cancer 119:283-7. 2006
  8. doi request reprint Mutations in the circadian gene CLOCK in colorectal cancer
    Pia Alhopuro
    Genome Scale Biology Research Program and Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Mol Cancer Res 8:952-60. 2010
  9. ncbi request reprint Mutations in two short noncoding mononucleotide repeats in most microsatellite-unstable colorectal cancers
    Tuija Hienonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
    Cancer Res 65:4607-13. 2005
  10. doi request reprint Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer
    Taru Ahvenainen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, PO Box 63, FI 00014 Helsinki, Finland
    Cancer Genet Cytogenet 183:83-8. 2008

Collaborators

Detail Information

Publications26

  1. ncbi request reprint Mutations in the human LKB1/STK11 gene
    Virpi Launonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Hum Mutat 26:291-7. 2005
    ..However, the proportion of the missense mutations seems to be higher among the somatic mutations (45%) than among the germline mutations (21%), and only seven of the mutations are exactly the same in both of the mutation types...
  2. pmc Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome
    P Alhopuro
    Department of Medical Genetics, Biomedicum Helsinki Haartmaninkatu 8, University of Helsinki, Helsinki FIN 00014, Finland
    Br J Cancer 92:1126-9. 2005
    ..No disease-causing mutations were detected in the studied genes in PJS patients from different European populations...
  3. doi request reprint No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome
    Pia Vahteristo
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Fam Cancer 9:245-51. 2010
    ....
  4. ncbi request reprint Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability
    Heli J Lehtonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Int J Cancer 121:1386-9. 2007
    ..Thus we failed to provide in vivo evidence for the proposed link between HIF1 alpha stabilization and functional MMR deficiency, in TCAC deficient tumors...
  5. ncbi request reprint Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma
    Sanna K Ylisaukko-oja
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 14:880-3. 2006
    ..One of the changes was a novel mutation (Ala231Thr) and the other one (435insAAA) was previously described in FH deficiency families. These results suggest that benign ovarian tumors may be associated with HLRCC...
  6. ncbi request reprint Stress-induced expression of a novel variant of human fumarate hydratase (FH)
    Heli J Lehtonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Gene Expr 14:59-69. 2007
    ..Heat shock and prolonged hypoxia increased FHv expression in a cell line (HTB 115) by nine- and fourfold, respectively. These results suggest that FHv has an alternative function outside the TCAC related to cellular stress response...
  7. ncbi request reprint Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients
    Sanna K Ylisaukko-oja
    Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, Haartmaninkatu 8, Finland
    Int J Cancer 119:283-7. 2006
    ..5%). It appears that on the population level hereditary FH defects do play a role in pathogenesis of sporadic early onset ULMSs, albeit rarely...
  8. doi request reprint Mutations in the circadian gene CLOCK in colorectal cancer
    Pia Alhopuro
    Genome Scale Biology Research Program and Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Mol Cancer Res 8:952-60. 2010
    ..Using ChIP-Seq, novel CLOCK-binding elements were identified near DNA damage genes p21, NBR1, BRCA1, and RAD50. CLOCK is shown to be mutated in cancer, and altered response to DNA damage provides one plausible mechanism of tumorigenesis...
  9. ncbi request reprint Mutations in two short noncoding mononucleotide repeats in most microsatellite-unstable colorectal cancers
    Tuija Hienonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
    Cancer Res 65:4607-13. 2005
    ..These data call for urgent and thorough large-scale evaluation of mutation frequencies in neutral short repetitive sequences in MMR-deficient tumors...
  10. doi request reprint Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer
    Taru Ahvenainen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, PO Box 63, FI 00014 Helsinki, Finland
    Cancer Genet Cytogenet 183:83-8. 2008
    ..Our finding, together with the two patients with whole FH gene deletion who had been detected previously, suggests that exonic or whole-gene FH deletions are not a frequent cause of HLRCC syndrome...
  11. pmc The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas
    Elina Heliövaara
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Am J Pathol 175:2501-7. 2009
    ..We suggest that the down-regulation of ARNT may be connected to an imbalance in AHR/ARNT complex formation arising from aberrant cAMP signaling...
  12. doi request reprint Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer
    Taru A Koski
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Genes Chromosomes Cancer 48:544-51. 2009
    ....
  13. ncbi request reprint Conventional renal cancer in a patient with fumarate hydratase mutation
    Heli J Lehtonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Hum Pathol 38:793-6. 2007
    ..Our finding extends the number of cases in which HLRCC can be suspected, and the FH immunohistochemistry may serve as a useful tool to screen for HLRCC in young individuals with clear cell renal carcinoma...
  14. doi request reprint Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer
    Silva Saarinen
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Fam Cancer 11:525-8. 2012
    ..These results enable the genetic counseling and diagnostic mutation screening of the members of TOC families...
  15. doi request reprint Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma
    Silva Saarinen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Blood 118:493-8. 2011
    ..11; P = .018). NPAT is thus far the first gene implicated in nodular lymphocyte predominant Hodgkin lymphoma predisposition...
  16. ncbi request reprint No germline FH mutations in familial breast cancer patients
    Maija Kiuru
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, P O Box 63 Haartmaninkatu 8, FIN 00014 Helsinki, Helsinki, Finland
    Eur J Hum Genet 13:506-9. 2005
    ..Most of the cases were selected based on positive family or personal history for malignancies associated with HLRCC. No mutations were found. These results show that FH is not a major predisposing gene for familial breast cancer...
  17. doi request reprint MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas
    Netta Mäkinen
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Science 334:252-5. 2011
    ..All mutations resided in exon 2, suggesting that aberrant function of this region of MED12 contributes to tumorigenesis...
  18. pmc Unregulated smooth-muscle myosin in human intestinal neoplasia
    Pia Alhopuro
    Department of Medical Genetics and Division of Pathology, HUSLAB and Haartman Institute, Helsinki University Central Hospital and Genome Scale Biology Program, Biomedicum Helsinki, University of Helsinki, 00014, Helsinki, Finland
    Proc Natl Acad Sci U S A 105:5513-8. 2008
    ..These data challenge our view on MYH11 as a passive differentiation marker functioning in muscle contraction and add to our understanding of intestinal neoplasia...
  19. pmc Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors
    Rainer Lehtonen
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Am J Pathol 164:17-22. 2004
    ..Our data also indicate that somatic FH mutations appear to be limited to tumor types observed in hereditary leiomyomatosis and renal cell cancer...
  20. ncbi request reprint Hereditary leiomyomatosis and renal cell cancer (HLRCC)
    Maija Kiuru
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, P O Box 63 Haartmaninkatu 8, FIN 00014 Helsinki, Helsinki, Finland
    Curr Mol Med 4:869-75. 2004
    ..This review provides the present knowledge of the clinical, histopathological, and molecular features of HLRCC. Future prospects related to studies on the phenotype and molecular biology of HLRCC will also be discussed...
  21. ncbi request reprint Little evidence for involvement of MLH3 in colorectal cancer predisposition
    Tuija Hienonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Int J Cancer 106:292-6. 2003
    ..The frameshift was not present in the 30 CRC cases or in 700 cancer-free controls. While it is a difficult task to exclude a role of MLH3 in HNPCC, our study could not confirm a role for MLH3 in CRC predisposition...
  22. ncbi request reprint Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases
    Paivi Laiho
    Department of Medical Genetics, Biomedicum Helsinki, Haartmanikatu, University of Helsinki, Finland
    Oncogene 22:2206-14. 2003
    ..The approach provides an alternative strategy for detecting cancer predisposition genes solely reliant on the molecular analysis of single cases obviating the requirement to collect multiple samples from families...
  23. ncbi request reprint Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia
    Marianthi Georgitsi
    Department of Medical Genetics, University of Helsinki, Finland
    J Clin Endocrinol Metab 92:3321-5. 2007
    ..Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two acromegalic patients...
  24. pmc Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations
    Marianthi Georgitsi
    Department of Medical Genetics, Molecular and Cancer Biology Research Program, University of Helsinki, P O Box 63, 00014 Helsinki, Finland
    Proc Natl Acad Sci U S A 104:4101-5. 2007
    ..AIP IHC, followed by genetic counseling and possible AIP mutation analysis in IHC-negative cases, a procedure similar to the diagnostics of the Lynch syndrome, appears feasible in identification of PAP...
  25. pmc Induction of cyclooxygenase-2 in a mouse model of Peutz-Jeghers polyposis
    Derrick J Rossi
    Haartman Institute and Helsinki University Central Hospital, Biomedicum Helsinki, P O Box 63, University of Helsinki, 00014 Helsinki, Finland
    Proc Natl Acad Sci U S A 99:12327-32. 2002
    ..These findings thereby identify COX-2 as a potential target for chemoprevention in PJS patients...
  26. ncbi request reprint Analysis of 11q21-24 loss of heterozygosity candidate target genes in breast cancer: indications of TSLC1 promoter hypermethylation
    Minna Allinen
    Department of Clinical Genetics, University Hospital, University of Oulu, FIN 90029 OYS, Oulu, Finland
    Genes Chromosomes Cancer 34:384-9. 2002
    ..Thus, as has been shown in lung and some other forms of cancer, hypermethylation of the TSLC1 promoter region is also frequently a second hit along with LOH in breast cancer...