Lauri A Aaltonen

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. pmc Eleven candidate susceptibility genes for common familial colorectal cancer
    Alexandra E Gylfe
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    PLoS Genet 9:e1003876. 2013
  2. pmc Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma
    Eevi Kaasinen
    Genome Scale Biology Research Program, and Department of Medical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland
    PLoS ONE 8:e55209. 2013
  3. pmc Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer
    Esa Pitkänen
    Genome Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland
    Oncotarget 5:853-9. 2014
  4. pmc Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers
    M Georgitsi
    Department of Medical Genetics, Molecular and Cancer Biology Research Program, University of Helsinki, 00014 Helsinki, Finland
    Br J Cancer 96:352-6. 2007
  5. pmc Smad4 haploinsufficiency: a matter of dosage
    Paola Alberici
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, Rotterdam, The Netherlands
    Pathogenetics 1:2. 2008
  6. pmc Numbers of mutations to different types of colorectal cancer
    Peter Calabrese
    Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA
    BMC Cancer 5:126. 2005
  7. doi request reprint Aryl hydrocarbon receptor-interacting protein and acromegaly
    Lauri A Aaltonen
    Tumor Genomics Group, Academy of Finland and Genome Scale Biology Research Program Biomedicum, Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Horm Res 68:127-31. 2007
  8. 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
  9. doi request reprint High frequency of TTK mutations in microsatellite-unstable colorectal cancer and evaluation of their effect on spindle assembly checkpoint
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Finland
    Carcinogenesis 32:305-11. 2011
  10. doi request reprint Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients
    Tomas Tanskanen
    Department of Medical Genetics, Genome Scale Biology Program, University of Helsinki, Biomedicum, P O Box 63, FIN 00014 University of Helsinki, Helsinki, Finland
    Scand J Gastroenterol 48:672-8. 2013

Detail Information

Publications103 found, 100 shown here

  1. pmc Eleven candidate susceptibility genes for common familial colorectal cancer
    Alexandra E Gylfe
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    PLoS Genet 9:e1003876. 2013
    ..Additional genetic validation in other populations is required to provide firm evidence for causality, as well as to characterize the natural history of the respective phenotypes...
  2. pmc Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma
    Eevi Kaasinen
    Genome Scale Biology Research Program, and Department of Medical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland
    PLoS ONE 8:e55209. 2013
    ..Further work with high-throughput methods should elucidate the molecular basis of the potentially novel predisposition conditions found in this study...
  3. pmc Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer
    Esa Pitkänen
    Genome Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland
    Oncotarget 5:853-9. 2014
    ..While much work remains to be performed to understand the biological significance of retrotranspositions in cancer, accurate identification of these events is a prerequisite for success. ..
  4. pmc Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers
    M Georgitsi
    Department of Medical Genetics, Molecular and Cancer Biology Research Program, University of Helsinki, 00014 Helsinki, Finland
    Br J Cancer 96:352-6. 2007
    ..The remaining findings were silent, previously unreported, changes of the coding, non-coding, or untranslated regions of AIP. These results suggest that somatic AIP mutations are not common in CRC, breast, and prostate cancers...
  5. pmc Smad4 haploinsufficiency: a matter of dosage
    Paola Alberici
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, Rotterdam, The Netherlands
    Pathogenetics 1:2. 2008
    ..To date, the molecular and cellular consequences of SMAD4 haploinsufficiency on TGF-beta and BMP signaling and on genome-wide gene expression have not been investigated...
  6. pmc Numbers of mutations to different types of colorectal cancer
    Peter Calabrese
    Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA
    BMC Cancer 5:126. 2005
    ..For example, a sporadic cancer should require at least one more somatic mutation relative to its hereditary counterpart...
  7. doi request reprint Aryl hydrocarbon receptor-interacting protein and acromegaly
    Lauri A Aaltonen
    Tumor Genomics Group, Academy of Finland and Genome Scale Biology Research Program Biomedicum, Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Horm Res 68:127-31. 2007
    ..If so, the subject can be referred for genetic counseling and then can decide whether to undergo genetic testing...
  8. 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...
  9. doi request reprint High frequency of TTK mutations in microsatellite-unstable colorectal cancer and evaluation of their effect on spindle assembly checkpoint
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Finland
    Carcinogenesis 32:305-11. 2011
    ..No evidence of checkpoint weakening was observed. As a conclusion, heterozygous TTK mutations occur at a high frequency in MSI CRCs. Unexpectedly, the plausible selective advantage in tumourigenesis does not appear to be related to SAC...
  10. doi request reprint Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients
    Tomas Tanskanen
    Department of Medical Genetics, Genome Scale Biology Program, University of Helsinki, Biomedicum, P O Box 63, FIN 00014 University of Helsinki, Helsinki, Finland
    Scand J Gastroenterol 48:672-8. 2013
    ....
  11. ncbi request reprint Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region
    Sakari Vanharanta
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Genes Chromosomes Cancer 46:451-8. 2007
    ..We have refined the minimum deleted region at 7q22.3-q31 to 2.79 Mbp and identified a second region of deletion at 7q34. However, we identified no pathogenic coding variation...
  12. doi request reprint Characterization of uterine leiomyomas by whole-genome sequencing
    Miika Mehine
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    N Engl J Med 369:43-53. 2013
    ..Uterine leiomyomas are benign but affect the health of millions of women. A better understanding of the molecular mechanisms involved may provide clues to the prevention and treatment of these lesions...
  13. 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
    ....
  14. 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...
  15. doi request reprint Large genomic deletions in AIP in pituitary adenoma predisposition
    Marianthi Georgitsi
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland
    J Clin Endocrinol Metab 93:4146-51. 2008
    ..Germline mutations in AIP have been recently shown to cause pituitary adenoma predisposition (PAP). Subsequently, many intragenic germline mutations have been reported, both in familial and in sporadic settings...
  16. doi request reprint Allelic imbalance at rs6983267 suggests selection of the risk allele in somatic colorectal tumor evolution
    Sari Tuupanen
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, P O Box 63, FIN 00014 Helsinki, Finland
    Cancer Res 68:14-7. 2008
    ..The risk allele G was favored in 67 versus 34 tumors (P = 0.0007). This finding implicates that the underlying germ line genetic defect in 8q24.21 is a target in the somatic evolution of CRC...
  17. 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...
  18. doi request reprint A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer
    Liisa M Pelttari
    Department of Obstetrics andGynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    J Med Genet 49:429-32. 2012
    ..This study investigated RAD51D and RAD54L for mutations in breast and ovarian cancer patients in the Finnish population...
  19. pmc Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression
    Anniina Raitila
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Am J Pathol 177:1969-76. 2010
    ..This model constitutes a tool to further study AIP-associated pituitary tumorigenesis and may be potentially valuable in efforts to develop therapeutic strategies to treat pituitary adenomas...
  20. 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...
  21. 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...
  22. ncbi request reprint Preferential amplification of AURKA 91A (Ile31) in familial colorectal cancers
    Tuija Hienonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
    Int J Cancer 118:505-8. 2006
    ..Thus our results support the importance of AURKA 91A as a low penetrance CRC susceptibility factor...
  23. pmc Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    BMC Med Genet 12:23. 2011
    ....
  24. 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...
  25. pmc MED12 exon 2 mutations in histopathological uterine leiomyoma variants
    Netta Mäkinen
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 21:1300-3. 2013
    ..Cellular and atypical fibroids, in particular, may arise through different molecular mechanisms. The results also propose that MED12 and biallelic FH mutations may be mutually exclusive. ..
  26. pmc Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583
    Sari Tuupanen
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Cancer Genet 205:25-33. 2012
    ....
  27. doi request reprint Candidate driver genes in microsatellite-unstable colorectal cancer
    Pia Alhopuro
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Finland
    Int J Cancer 130:1558-66. 2012
    ..This is a large scale, unbiased effort to identify genes that when mutated are likely to contribute to MSI CRC development...
  28. doi request reprint Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas
    Marianthi Georgitsi
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Clin Endocrinol (Oxf) 69:621-7. 2008
    ..The aim of the study was to examine the proportion of germline AIP mutations in apparently sporadic paediatric pituitary adenomas...
  29. 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...
  30. doi request reprint Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members
    Heikki J Jarvinen
    Department of Surgery, University of Helsinki, FI 00029 HUS, Helsinki, Finland
    J Clin Oncol 27:4793-7. 2009
    ..The long-term effectiveness of surveillance was evaluated in Lynch syndrome family members tested approximately 10 years ago...
  31. 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...
  32. pmc Low-penetrance susceptibility variants in familial colorectal cancer
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Cancer Epidemiol Biomarkers Prev 19:1478-83. 2010
    ..The aim of this study was to examine the combined contribution of the 10 variants, rs6983267, rs4779584, rs4939827, rs16892766, rs10795668, rs3802842, rs4444235, rs9929218, rs10411210, and rs961253, on familial CRC...
  33. ncbi request reprint A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis
    Pia Alhopuro
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Hum Mutat 26:393. 2005
    ..We therefore suggest that screening of mutations in MYH exon 14 should be added to the molecular analysis at-risk individuals...
  34. 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...
  35. 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...
  36. doi request reprint Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening
    Jaana Tolvanen
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Hum Reprod 27:1865-9. 2012
    ..It may also affect family planning as multiple myomas at early age may significantly reduce fertility...
  37. ncbi request reprint Background mutation frequency in microsatellite-unstable colorectal cancer
    Heli Sammalkorpi
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
    Cancer Res 67:5691-8. 2007
    ..For MSI target gene identification, repeats in transcribed sequences seem to be the most appropriate reference group for coding region repeat mutations...
  38. pmc EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis
    Antti Kokko
    Department of Medical Genetics, Molecular and Cancer Biology Research Program, P, O, Box 63, 00014 University of Helsinki, Finland
    BMC Cancer 6:145. 2006
    ..Inactivation of the gene has been shown to correlate with progression of colorectal tumorigenesis, and somatic mutations have been reported in both colorectal and prostate tumors...
  39. pmc Somatic mutation analysis of MYH11 in breast and prostate cancer
    Pia Alhopuro
    Department of Medical Genetics and Translational Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    BMC Cancer 8:263. 2008
    ..Recently, MYH1 and MYH9 have been identified as candidate breast cancer genes in a systematic analysis of the breast cancer genome...
  40. 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...
  41. ncbi request reprint Distinct expression profile in fumarate-hydratase-deficient uterine fibroids
    Sakari Vanharanta
    Department of Medical Genetics, University of Helsinki, Finland
    Hum Mol Genet 15:97-103. 2006
    ..We show that FH mutations alter significantly the expression profiles of fibroids, most strikingly increasing the expression of genes involved in glycolysis...
  42. ncbi request reprint Modeling tumor predisposing FH mutations in yeast: effects on fumarase activity, growth phenotype and gene expression profile
    Antti Kokko
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
    Int J Cancer 118:1340-5. 2006
    ..The findings support the hypothesis that modifier gene(s), rather than phenotype-genotype effects, display a major role in determining tumor phenotypes in families segregating FH mutations...
  43. doi request reprint Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomas
    Netta Mäkinen
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Int J Cancer 134:1008-12. 2014
    ..Additional factors that cannot be detected by exome sequencing, such as somatic structural rearrangements, epigenetic events and intronic variants, are likely to have a particular impact to the development of MED12 wild-type lesions. ..
  44. ncbi request reprint High familial risk in nodular lymphocyte-predominant Hodgkin lymphoma
    Silva Saarinen
    University of Helsinki, Helsinki, Finland
    J Clin Oncol 31:938-43. 2013
    ..We conducted a population-based study by using the Finnish registries and evaluated the familial risk in NLPHL...
  45. pmc Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients
    Liisa M Pelttari
    Departments of Obstetrics and Gynecology, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland
    BMC Cancer 12:552. 2012
    ..In the Finnish population, we have identified two founder mutations in RAD51C that increase the risk of ovarian cancer but not breast cancer in the absence of ovarian cancer. Risk for other cancers has not been studied...
  46. 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...
  47. 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...
  48. ncbi request reprint Gene-expression profiling predicts recurrence in Dukes' C colorectal cancer
    Diego Arango
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Gastroenterology 129:874-84. 2005
    ..Microarray analysis allows fine tumor classification but cannot be used with paraffin-embedded archival samples...
  49. ncbi request reprint 7q deletion mapping and expression profiling in uterine fibroids
    Sakari Vanharanta
    Department of Medical Genetics, University of Helsinki, PO Box 63 Haartmaninkatu 8, Biomedicum Helsinki, FIN 00014, Finland
    Oncogene 24:6545-54. 2005
    ..The presence or absence of 7q-deletions did not dramatically affect the global expression pattern of the tumours; changes, however, were observed in genes related to vesicular transport and nucleic acid binding...
  50. ncbi request reprint NOD2 3020insC alone is not sufficient for colorectal cancer predisposition
    Pia Alhopuro
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Cancer Res 64:7245-7. 2004
    ..Our results suggest that NOD2 3020insC alone does not contribute to CRC risk. If this variant predisposes to CRC, additional factors not present in the Finnish population need to be involved...
  51. doi request reprint No evidence of RET germline mutations in familial pituitary adenoma
    Elina Heliövaara
    Genome Scale Biology Research Program, Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland
    J Mol Endocrinol 46:1-8. 2011
    ..05). We conclude that the RET variants are presumably not related to pituitary adenoma predisposition, although reduced RET expression may play a role in AIP-related genesis of somatotropinomas...
  52. ncbi request reprint Computational identification of candidate loci for recessively inherited mutation using high-throughput SNP arrays
    Marko Laakso
    Computational Systems Biology Laboratory, Institute of Biomedicine, University of Helsinki, Finland
    Bioinformatics 23:1952-61. 2007
    ..Tools for analysing and visualizing these large genetic data sets in biologically relevant manner are rare. This hinders effective use of the SNP-array data in research on complex diseases, such as cancer...
  53. 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
    ....
  54. doi request reprint Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1)
    Eevi Kaasinen
    Department of Medical Genetics, University of Helsinki, Helsinki 00014, Finland
    Hum Mol Genet 19:2747-53. 2010
    ..The results will shed light on the biological basis of human laterality defects and facilitate molecular diagnosis of RAI...
  55. 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...
  56. ncbi request reprint SMAD4 levels and response to 5-fluorouracil in colorectal cancer
    Pia Alhopuro
    Department of Medical Genetics, Biomedicum Helsinki, Haartman Institute, University of Helsinki, Finland
    Clin Cancer Res 11:6311-6. 2005
    ....
  57. doi request reprint Identification of candidate oncogenes in human colorectal cancers with microsatellite instability
    Alexandra E Gylfe
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Gastroenterology 145:540-3.e22. 2013
    ..The form of ZBTB2 associated with colorectal cancer increased cell proliferation. The mutation hot spots might be used to develop personalized tumor profiling and therapy. ..
  58. ncbi request reprint No evidence for association of NOD2 R702W and G908R with colorectal cancer
    Sari Tuupanen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Int J Cancer 121:76-9. 2007
    ..Environmental or additional genetic factors may play a role in CRC development in NOD2 variant carriers. Further work is necessary to establish the possible role of NOD2 variants in CRC predisposition...
  59. ncbi request reprint Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update
    Auli Karhu
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Hum Mol Genet 16:R73-9. 2007
    ..The present study review the current state of knowledge regarding the genes associated to inherited pituitary neoplasia, with a particular focus on the novel pituitary adenoma predisposing genes, CDKN1B and AIP...
  60. 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...
  61. pmc Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
    Sakari Vanharanta
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
    Am J Hum Genet 74:153-9. 2004
    ..All RCCs showed loss of the remaining wild-type allele. Our observations suggest that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance...
  62. 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...
  63. 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...
  64. pmc Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients
    Susa Enholm
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 3, Helsinki, FIN 00014, Finland
    Am J Pathol 163:827-32. 2003
    ..As evaluated against national Finnish Polyposis Registry data MYH-associated colorectal cancer appears to be as common as colorectal cancer associated with familial adenomatous polyposis...
  65. doi request reprint Somatic mutations and germline sequence variants in patients with familial colorectal cancer
    Alexandra E Gylfe
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Finland
    Int J Cancer 127:2974-80. 2010
    ..It is possible that the identified germline variants modulate predisposition to CRC. Functional validation and larger sample sets, however, will be required to clarify the role of the identified germline variants in CRC susceptibility...
  66. doi request reprint Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy
    Heli J Lehtonen
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Gastroenterology 143:1482-1491.e3. 2012
    ..FVM is characterized by impaired functions of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. We searched for genetic factors that might cause this disorder...
  67. pmc MED12 exon 2 mutations are common in uterine leiomyomas from South African patients
    Netta Mäkinen
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Oncotarget 2:966-9. 2011
    ..When corrected by tumor size, these results are very similar to those derived in the Finnish material. This study confirms a major role of MED12 in the genesis of leiomyomas, regardless of ethnicity...
  68. ncbi request reprint The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling
    Sari Tuupanen
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Nat Genet 41:885-90. 2009
    ..Our work provides evidence that the common CRC predisposition associated with 8q24 arises from enhanced responsiveness to Wnt signaling...
  69. doi request reprint Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene
    Silva Saarinen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Blood 121:3428-30. 2013
    ..To our knowledge, this is the first time when familial clustering of PMBCL is reported. Although we propose MLL as a candidate predisposition gene for this condition, this finding needs to be validated in additional cases...
  70. pmc Loss of SUFU function in familial multiple meningioma
    Mervi Aavikko
    Genome Scale Biology Research Program, University of Helsinki, 00014 Helsinki, Finland
    Am J Hum Genet 91:520-6. 2012
    ..It is possible that other genic mutations resulting in aberrant activation of the Hh pathway might underlie meningioma predisposition in families with an unknown etiology...
  71. doi request reprint Transcription factor PROX1 induces colon cancer progression by promoting the transition from benign to highly dysplastic phenotype
    Tatiana V Petrova
    Molecular and Cancer Biology Research Program, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, P O B 63, 00014 Helsinki, Finland
    Cancer Cell 13:407-19. 2008
    ..Our data underscore the complexity of cancer pathogenesis and implicate PROX1 in malignant tumor progression through the regulation of cell polarity and adhesion...
  72. pmc Rule-based induction method for haplotype comparison and identification of candidate disease loci
    Sirkku Karinen
    Research Programs Unit, Genome Scale Biology, and Institute of Biomedicine, Biochemistry and Developmental Biology, University of Helsinki, Haartmaninkatu 8, Helsinki, FIN 00014, Finland
    Genome Med 4:21. 2012
    ..Our analysis of three families with multiple individuals affected by lymphoma identified several interesting haplotypes shared by distantly related patients...
  73. 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...
  74. ncbi request reprint Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families
    Maija Kiuru
    Department of Medical Genetics, Biomedicum Helsinki or Haartman Institute, University of Helsinki, FIN 00014 Helsinki, Finland
    Cancer Res 62:4554-7. 2002
    ..Whereas the two former lesions were shown to originate from a germ-line mutation, the soft tissue sarcoma is to our knowledge the first example of purely somatic inactivation of FH in tumors...
  75. 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...
  76. ncbi request reprint Low-level microsatellite instability in most colorectal carcinomas
    Paivi Laiho
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, FIN 00014 Helsinki, Finland
    Cancer Res 62:1166-70. 2002
    ..Our results show that the sensitivity of a typically used marker number to detect MSI-L is very low, and they suggest that MSS and MSI-L tumors have a common molecular background...
  77. 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...
  78. ncbi request reprint Gene expression in colorectal cancer
    Karin Birkenkamp-Demtroder
    Molecular Diagnostic Laboratory, Department of Clinical Biochemistry, Aarhus University Hospital, DK 8200 Aarhus, Denmark
    Cancer Res 62:4352-63. 2002
    ..The genes and ESTs presented in this study encode new potential tumor markers as well as potential novel therapeutic targets for prevention or therapy of CRC...
  79. ncbi request reprint Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis
    Kevin Sweet
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, USA
    JAMA 294:2465-73. 2005
    ..Assigning a syndromic diagnosis is important because it guides management, especially surveillance and prophylactic surgery...
  80. pmc Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot
    James R Howe
    Department of Surgery, University of Iowa College of Medicine, Iowa City, IA 52242 1086, USA
    Am J Hum Genet 70:1357-62. 2002
    ....
  81. ncbi request reprint Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
    Ian P M Tomlinson
    Molecular and Population Genetics Laboratory, Imperial Cancer Research Fund, 44, Lincoln s Inn Fields, London WC2A 3PX, UK
    Nat Genet 30:406-10. 2002
    ..Our results provide clues to the pathogenesis of fibroids and emphasize the importance of mutations of housekeeping and mitochondrial proteins in the pathogenesis of common types of tumor...
  82. ncbi request reprint Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
    Oliver M Sieber
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London, United Kingdom
    N Engl J Med 348:791-9. 2003
    ..Tumors from affected persons displayed excess somatic transversions of a guanine-cytosine pair to a thymine-adenine pair (G:C-->T:A) in the APC gene...
  83. ncbi request reprint Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset
    Heather Hampel
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, The Ohio State University, Columbus, 43210, USA
    Gastroenterology 129:415-21. 2005
    ..The purpose of this study was to re-examine the penetrance in HNPCC using a comprehensive dataset from a geographically defined region...
  84. ncbi request reprint A recurrent mutation in PALB2 in Finnish cancer families
    Hannele Erkko
    Department of Clinical Genetics, University of Oulu and Oulu University Hospital, FIN 90029 OYS, Finland
    Nature 446:316-9. 2007
    ..1592delT truncation allele was observed. These results indicate that PALB2 is a breast cancer susceptibility gene that, in a suitably mutant form, may also contribute to familial prostate cancer development...
  85. ncbi request reprint EPHB4 and survival of colorectal cancer patients
    Veronica Davalos
    Molecular Oncology Program, Institut Catala d Oncologia, Barcelona, Spain
    Cancer Res 66:8943-8. 2006
    ....
  86. doi request reprint Mutation analysis of MYH11 in acute myeloid leukemia
    Heli Sammalkorpi
    Leuk Lymphoma 49:1829-31. 2008
  87. pmc ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer
    Sanna Siltanen
    Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampere, Tampere University Hospital, Tampere, Finland
    Eur J Hum Genet 16:983-91. 2008
    ....
  88. ncbi request reprint Pituitary adenoma predisposition caused by germline mutations in the AIP gene
    Outi Vierimaa
    Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland
    Science 312:1228-30. 2006
    ..Typically, PAP patients do not display a strong family history of pituitary adenoma; thus, AIP is an example of a low-penetrance tumor susceptibility gene...
  89. pmc Colorectal pretumor progression before and after loss of DNA mismatch repair
    Peter Calabrese
    Department of Biological Sciences, Program in Molecular and Computational Biology, University of Southern California, Los Angeles, California 90033, USA
    Am J Pathol 164:1447-53. 2004
    ..HNPCC pretumor progression essentially begins from birth and ends with MMR loss, implying elevated mutation rates and tumorigenesis may be unnecessary for most progression...
  90. ncbi request reprint Mechanisms of inactivation of the receptor tyrosine kinase EPHB2 in colorectal tumors
    Hafid Alazzouzi
    Molecular Oncology and Aging Group, Molecular Biology and Biochemistry Research Center CIBBIM, Valle Hebron Hospital Research Institute, Barcelona, Spain
    Cancer Res 65:10170-3. 2005
    ....
  91. ncbi request reprint p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome
    Kaisa Sotamaa
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
    Clin Cancer Res 11:6840-4. 2005
    ..We studied the influence of both polymorphisms on age of onset in Lynch syndrome and of the p53 polymorphism also in sporadic colorectal cancer...
  92. pmc PolyA deletions in hereditary nonpolyposis colorectal cancer: mutations before a gatekeeper
    Kyoung Mee Kim
    Department of Pathology, Norris Cancer Center, University of Southern California School of Medicine, Los Angeles, California 90033, USA
    Am J Pathol 160:1503-6. 2002
    ..5 bases). These findings illustrate that MSI is extensive in both small adenomas, and tumors which appear after negative clinical examinations, consistent with an early loss of MMR in HNPCC, even before a gatekeeper mutation...
  93. ncbi request reprint Clusterin expression in normal mucosa and colorectal cancer
    Claus Lindbjerg Andersen
    Molecular Diagnostic Laboratory, Department of Clinical Biochemistry, Aarhus University Hospital, DK8200 Aarhus N, Denmark
    Mol Cell Proteomics 6:1039-48. 2007
    ..The cases with de novo synthesized Clusterin define a distinct subgroup of CRC that may be of clinical importance as anti-Clusterin therapeutics are now in clinical trials...
  94. ncbi request reprint EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer
    Shantie Jagmohan-Changur
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands 2333
    Cancer Res 63:154-8. 2003
    ..Thus, little evidence was obtained to support a major causative role of EXO1 in HNPCC, although we cannot exclude a role for EXO1 as a low penetrance cancer susceptibility or modifying gene...
  95. pmc Tumour selection advantage of non-dominant negative P53 mutations in homozygotic MDM2-SNP309 colorectal cancer cells
    Hafid Alazzouzi
    J Med Genet 44:75-80. 2007
    ..Mdm2 is a natural inhibitor of p53 function and its overexpression impairs p53 transcriptional activity. T-->G single-nucleotide polymorphism at position 309 (SNP309) of mdm2 induces overexpression of mdm2, but inhibits p53...
  96. ncbi request reprint Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome
    Jukka Pekka Mecklin
    Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla, Finland
    Gastroenterology 133:1093-8. 2007
    ..This study was designed to assess the cumulative risk for the development of colorectal adenoma or carcinoma in prospective colonoscopic surveillance...
  97. ncbi request reprint Functional diversity of human protection of telomeres 1 isoforms in telomere protection and cellular senescence
    Qin Yang
    Laboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland 20892 4258, USA
    Cancer Res 67:11677-86. 2007
    ..This study highlights a human-specific complexity in telomere protection and damage signaling conferred by functionally distinct isoforms from the single POT1 gene...
  98. pmc MDM2 SNP309 accelerates colorectal tumour formation in women
    Gareth L Bond
    J Med Genet 43:950-2. 2006
    ....
  99. ncbi request reprint SMAD4 as a prognostic marker in colorectal cancer
    Hafid Alazzouzi
    Centre d Investigacions en Bioquimica i Biologia Molecular, Hospital Universitari Vall d Hebron, Barcelona, Spain
    Clin Cancer Res 11:2606-11. 2005
    ..In conclusion, the level of expression of SMAD4 was found to be a more sensitive marker than 18q21 allelic imbalance and SMAD4 mutations, which were of no prognostic significance for these patients...
  100. ncbi request reprint Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status
    Carla Oliveira
    Institute of Molecular Pathology and Immunology, The University of Porto, IPATIMUP, 4200 465 Porto, Portugal
    Hum Mol Genet 13:2303-11. 2004
    ....
  101. ncbi request reprint BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes
    Enric Domingo
    Molecular Oncology and Aging Research, Centre d Investigacions en Bioquimica i Biologia Molecular CIBBIM, Hospital Universitari Vall d Hebron, Passeig Vall d Hebron 119 129, Barcelona 08035, Spain
    Oncogene 24:3995-8. 2005
    ..These findings have a potential impact in the genetic testing for HNPCC diagnostics and suggest a potential use of BRAF as exclusion criteria for HNPCC or as a molecular marker of sporadic cancer...