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Genomes and Genes | Virpi LaunonenSummaryAffiliation: University of Helsinki Country: Finland Publications
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Publications
Mutations in the human LKB1/STK11 geneVirpi 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...
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndromePia Vahteristo
Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
Fam Cancer 9:245-51. 2010....- Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instabilityHeli 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... - Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenomaSanna 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... - Mutations in the circadian gene CLOCK in colorectal cancerPia 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... 
The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomasElina 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...- Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patientsSanna 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... - 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... - Conventional renal cancer in a patient with fumarate hydratase mutationHeli 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... - Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancerTaru A Koski
Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
Genes Chromosomes Cancer 48:544-51. 2009.... - Mutations in two short noncoding mononucleotide repeats in most microsatellite-unstable colorectal cancersTuija 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... - Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancerTaru 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... - MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomasNetta 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... - Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumorsRainer 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... - Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancerSilva 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... - No germline FH mutations in familial breast cancer patientsMaija 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... - Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphomaSilva 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... - Unregulated smooth-muscle myosin in human intestinal neoplasiaPia 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... - 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... - Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial casesPaivi 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... - Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasiaMarianthi 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... - Little evidence for involvement of MLH3 in colorectal cancer predispositionTuija 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... - Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutationsMarianthi 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... - Induction of cyclooxygenase-2 in a mouse model of Peutz-Jeghers polyposisDerrick 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... - Analysis of 11q21-24 loss of heterozygosity candidate target genes in breast cancer: indications of TSLC1 promoter hypermethylationMinna 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...