Pia Vahteristo

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. pmc Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer
    K Kämpjärvi
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, PO Box 63, Helsinki FIN 00014, Finland
    Br J Cancer 107:1761-5. 2012
  2. ncbi request reprint BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition
    Pia Vahteristo
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
    Eur J Hum Genet 14:167-72. 2006
  3. pmc BACH1 Ser919Pro variant and breast cancer risk
    Pia Vahteristo
    Department of Obstetrics, Helsinki University Central Hospital, Helsinki, Finland
    BMC Cancer 6:19. 2006
  4. doi request reprint Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer
    Tatiana Cajuso
    Department of Medical Genetics Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Int J Cancer 135:611-23. 2014
  5. ncbi request reprint Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients
    Outi Kilpivaara
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, FIN 00029 HUS, Finland
    Int J Cancer 113:575-80. 2005
  6. 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
  7. 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
  8. ncbi request reprint CHEK2 variant I157T may be associated with increased breast cancer risk
    Outi Kilpivaara
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital HUCH, Helsinki, Finland
    Int J Cancer 111:543-7. 2004
  9. 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
  10. doi request reprint Systematic search for rare variants in Finnish early-onset colorectal cancer patients
    Tomas Tanskanen
    Department of Medical Genetics, Genome Scale Biology Program, University of Helsinki, Biomedicum, Helsinki, Finland
    Cancer Genet 208:35-40. 2015

Detail Information

Publications42

  1. pmc Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer
    K Kämpjärvi
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, PO Box 63, Helsinki FIN 00014, Finland
    Br J Cancer 107:1761-5. 2012
    ..In this work, we examined the role of MED12 exon 2 mutations in other tumour types...
  2. ncbi request reprint BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition
    Pia Vahteristo
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
    Eur J Hum Genet 14:167-72. 2006
    ..These results suggest that the contribution of the BARD1 germline variants to breast cancer predisposition is very limited, and that neither Cys557Ser nor Val507Met have an effect on familial breast cancer susceptibility...
  3. pmc BACH1 Ser919Pro variant and breast cancer risk
    Pia Vahteristo
    Department of Obstetrics, Helsinki University Central Hospital, Helsinki, Finland
    BMC Cancer 6:19. 2006
    ..In this study, we aimed to evaluate whether there are BACH1 genetic variants that contribute to breast cancer risk in Finland...
  4. doi request reprint Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer
    Tatiana Cajuso
    Department of Medical Genetics Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Int J Cancer 135:611-23. 2014
    ..Our results indicate that in addition to ARID1A, other members of the ARID gene family may play a role in MSI CRC. ..
  5. ncbi request reprint Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients
    Outi Kilpivaara
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, FIN 00029 HUS, Finland
    Int J Cancer 113:575-80. 2005
    ..02). The c.1100delC germ line mutation also associated strongly with bilateral breast cancer. No significant correlation was seen between CHEK2 status and hormone receptor status, histology, lymph node status, or overall survival...
  6. 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. ..
  7. 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...
  8. ncbi request reprint CHEK2 variant I157T may be associated with increased breast cancer risk
    Outi Kilpivaara
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital HUCH, Helsinki, Finland
    Int J Cancer 111:543-7. 2004
    ..The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC...
  9. 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...
  10. doi request reprint Systematic search for rare variants in Finnish early-onset colorectal cancer patients
    Tomas Tanskanen
    Department of Medical Genetics, Genome Scale Biology Program, University of Helsinki, Biomedicum, Helsinki, Finland
    Cancer Genet 208:35-40. 2015
    ....
  11. 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...
  12. 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. ..
  13. 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...
  14. doi request reprint 3'-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity
    Johanna Kondelin
    Medicum Department of Medical and Clinical Genetics, University of Helsinki, 00014, Helsinki, Finland
    Fam Cancer 14:449-53. 2015
    ..5%) and none of the microsatellite stable colorectal tumors. This repeat thus represents the first potential single marker for detecting microsatellite instability...
  15. pmc Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12
    Netta Mäkinen
    Genome Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland
    PLoS Genet 12:e1005850. 2016
    ..ALT phenotype was commonly seen in tumors, indicating that ATR inhibitors, which were recently suggested as possible new drugs for ATRX-deficient tumors, could provide a potential novel therapeutic option for ULMS. ..
  16. doi request reprint Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms
    Kati Kämpjärvi
    Genome Scale Biology Research Program and Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland
    Prostate 76:22-31. 2016
    ..MED12 mutations in exon 26, resulting in a substitution of leucine 1224 to phenylalanine (L1224F), have been recurrently observed in prostate cancer...
  17. doi request reprint MED12 mutation frequency in unselected sporadic uterine leiomyomas
    Hanna Riikka Heinonen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland Genome Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland
    Fertil Steril 102:1137-42. 2014
    ....
  18. doi 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...
  19. pmc Variants on the promoter region of PTEN affect breast cancer progression and patient survival
    Tuomas Heikkinen
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, 00029 HUS, Helsinki, Finland
    Breast Cancer Res 13:R130. 2011
    ..We investigated the effect of germline variation in the promoter region of the PTEN gene on clinical characteristics and survival in breast cancer...
  20. 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...
  21. 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...
  22. 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...
  23. doi request reprint Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry
    Tuomas Heikkinen
    Research Programs Unit, Genome Scale Biology, University of Helsinki, Helsinki, Finland
    Hum Mutat . 2017
    ..Our findings provide new mechanistic insights into the MED12 functions and indicate that somatic nonsense mutations in early exons may avoid NMD. This article is protected by copyright. All rights reserved...
  24. 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
    ....
  25. doi request reprint Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas
    Kati Kämpjärvi
    Department of Medical Genetics, Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Hum Mutat 35:1136-41. 2014
    ..These results further emphasize the role of MED12 in uterine leiomyomas, show that exon 1 and exon 2 exert their tumorigenic effect in similar manner, and stress that exon 1 should be included in subsequent MED12 screenings. ..
  26. doi request reprint Genomics of uterine leiomyomas: insights from high-throughput sequencing
    Miika Mehine
    Department of Medical Genetics and Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Fertil Steril 102:621-9. 2014
    ..Elucidating the molecular pathogenesis of leiomyomas should be relevant for developing treatments for this very common disease. ..
  27. 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...
  28. 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. ..
  29. 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...
  30. 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
    ....
  31. 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...
  32. pmc A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer
    Pia Vahteristo
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Haartmaninkatu 8, FIN 00029 HUS, Helsinki, Finland
    Am J Hum Genet 71:432-8. 2002
    ....
  33. 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...
  34. 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...
  35. 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
    ....
  36. ncbi request reprint Genome-wide scanning for linkage in Finnish breast cancer families
    Pia Huusko
    Cancer Genetics Branch, NHGRI, NIH, Helsinki University, Central Hospital, Helsinki, Finland
    Eur J Hum Genet 12:98-104. 2004
    ..Both linkage and association studies are likely to be useful, particularly in other isolated populations...
  37. 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...
  38. pmc Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia
    Kati Kämpjärvi
    Department of Medical Genetics and Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland
    Oncotarget 6:1884-8. 2015
    ..Additional studies on the role of MED12 mutation status as a putative prognostic factor as well as mutations' exact tumorigenic mechanism in CLL are warranted. ..
  39. doi request reprint Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer
    Iikki Donner
    Genome Scale Biology Research Program, Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, P O Box 63, 00014, Helsinki, Finland
    Fam Cancer 14:241-6. 2015
    ..Of these genes, INSR is of special interest as insulin signaling was recently shown to affect tumor cell invasion capability by modulating E-cadherin glycosylation...
  40. 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...
  41. 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...
  42. pmc Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity
    Mikko Turunen
    Genome Scale Biology Program and Department of Pathology, Haartman Institute, University of Helsinki, Biomedicum, P O Box 63 Haartmaninkatu 8, Helsinki FIN 00014, Finland
    Cell Rep 7:654-60. 2014
    ..These findings indicate that uterine leiomyoma-linked mutations in MED12 uncouple Cyclin C-CDK8/19 from core Mediator and further identify the MED12/Cyclin C interface as a prospective therapeutic target in CDK8-driven cancers. ..