Pia Vahteristo

Pia Vahteristo

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Pia Vahteristo

Pia Vahteristo

Publications by authors named "Pia Vahteristo"

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60Publications

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Loss of ATRX/DAXX expression and alternative lengthening of telomeres in uterine leiomyomas.

Cancer 2018 12 13;124(24):4650-4656. Epub 2018 Nov 13.

Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.

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http://doi.wiley.com/10.1002/cncr.31754
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http://dx.doi.org/10.1002/cncr.31754DOI Listing
December 2018

mutations and fumarate hydratase inactivation in uterine adenomyomas.

Hum Reprod Open 2018 17;2018(4):hoy020. Epub 2018 Nov 17.

Research Programs Unit, Genome-Scale Biology Research Program and Medicum, Department of Medical and Clinical Genetics., FIN-00014 University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1093/hropen/hoy020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276694PMC
November 2018

Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors.

Mol Cancer 2017 06 7;16(1):101. Epub 2017 Jun 7.

Research Programs Unit, Genome-Scale Biology Research Program and Medicum, Department of Medical and Clinical Genetics, FIN-00014 University of Helsinki, P.O. Box 63, Helsinki, Finland.

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http://molecular-cancer.biomedcentral.com/articles/10.1186/s
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http://dx.doi.org/10.1186/s12943-017-0672-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463371PMC
June 2017

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas.

Sci Rep 2017 04 21;7(1):1015. Epub 2017 Apr 21.

Department of Medical and Clinical Genetics and Genome-Scale Biology Research Program, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/s41598-017-01199-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5430741PMC
April 2017

Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.

Proc Natl Acad Sci U S A 2016 Feb 19;113(5):1315-20. Epub 2016 Jan 19.

Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki FIN-00014, Finland; Research Programs Unit, Genome-Scale Biology, University of Helsinki, Helsinki FIN-00014, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, SE-171 77, Stockholm, Sweden

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http://dx.doi.org/10.1073/pnas.1518752113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747776PMC
February 2016

Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12.

PLoS Genet 2016 Feb 18;12(2):e1005850. Epub 2016 Feb 18.

Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1371/journal.pgen.1005850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4758603PMC
February 2016

Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer.

Fam Cancer 2015 Jun;14(2):241-6

Genome-Scale Biology Research Program, Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, P.O. Box 63, 00014, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10689-015-9778-zDOI Listing
June 2015

Systematic search for rare variants in Finnish early-onset colorectal cancer patients.

Cancer Genet 2015 Jan-Feb;208(1-2):35-40. Epub 2014 Dec 31.

Department of Medical Genetics, Genome-Scale Biology Program, University of Helsinki, Biomedicum, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2014.12.004DOI Listing
May 2015

MED12 mutation frequency in unselected sporadic uterine leiomyomas.

Fertil Steril 2014 Oct 6;102(4):1137-42. Epub 2014 Aug 6.

Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2014.06.040DOI Listing
October 2014

Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas.

Hum Mutat 2014 Sep 21;35(9):1136-41. Epub 2014 Jul 21.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/humu.22612DOI Listing
September 2014

Genomics of uterine leiomyomas: insights from high-throughput sequencing.

Fertil Steril 2014 Sep 5;102(3):621-9. Epub 2014 Aug 5.

Department of Medical Genetics and Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2014.06.050DOI Listing
September 2014

Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.

Cell Rep 2014 May 18;7(3):654-60. Epub 2014 Apr 18.

Department of Molecular Medicine, Institute of Biotechnology, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, Mail Code 8257, STRF, San Antonio, TX 78229-3900, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.03.047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4041330PMC
May 2014

Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomas.

Int J Cancer 2014 Feb 29;134(4):1008-12. Epub 2013 Aug 29.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ijc.28410DOI Listing
February 2014

MED12 exon 2 mutations in histopathological uterine leiomyoma variants.

Eur J Hum Genet 2013 Nov 27;21(11):1300-3. Epub 2013 Feb 27.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2013.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798840PMC
November 2013

Characterization of uterine leiomyomas by whole-genome sequencing.

N Engl J Med 2013 Jul 5;369(1):43-53. Epub 2013 Jun 5.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1056/NEJMoa1302736DOI Listing
July 2013

Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.

Scand J Gastroenterol 2013 Jun 2;48(6):672-8. Epub 2013 Apr 2.

Department of Medical Genetics, Genome-Scale Biology Program, University of Helsinki, Biomedicum, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.3109/00365521.2013.783102DOI Listing
June 2013

High familial risk in nodular lymphocyte-predominant Hodgkin lymphoma.

J Clin Oncol 2013 Mar 2;31(7):938-43. Epub 2013 Jan 2.

University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1200/JCO.2012.43.5958DOI Listing
March 2013

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.

Fam Cancer 2012 Sep;11(3):525-8

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.

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http://link.springer.com/10.1007/s10689-012-9532-8
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http://dx.doi.org/10.1007/s10689-012-9532-8DOI Listing
September 2012

Variants on the promoter region of PTEN affect breast cancer progression and patient survival.

Breast Cancer Res 2011 15;13(6):R130. Epub 2011 Dec 15.

Department of Obstetrics and Gynecology, Helsinki University Central Hospital, 00029 HUS, Helsinki, Finland.

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http://dx.doi.org/10.1186/bcr3076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326572PMC
June 2012

Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.

Hum Reprod 2012 Jun 3;27(6):1865-9. Epub 2012 Apr 3.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1093/humrep/des105DOI Listing
June 2012

Rule-based induction method for haplotype comparison and identification of candidate disease loci.

Genome Med 2012 Mar 19;4(3):21. Epub 2012 Mar 19.

Research Programs Unit, Genome-Scale Biology, and Institute of Biomedicine, Biochemistry and Developmental Biology, University of Helsinki, Haartmaninkatu 8, Helsinki, FIN-00014, Finland.

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http://dx.doi.org/10.1186/gm320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446271PMC
March 2012

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.

Virchows Arch 2011 Feb 14;458(2):213-9. Epub 2011 Jan 14.

Department of Pathology, Institute of Diagnostics, University of Oulu, FI-90014, Oulu, Finland.

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http://dx.doi.org/10.1007/s00428-010-1031-4DOI Listing
February 2011

AIP gene in pituitary adenoma predisposition.

Expert Rev Endocrinol Metab 2007 Jul;2(4):443-450

b Department of Medical Genetics, Genome-Scale Biology Research Program, PO Box 63 (Haartmaninkatu 8), FIN-00014 University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1586/17446651.2.4.443DOI Listing
July 2007

EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis.

BMC Cancer 2006 Jun 1;6:145. Epub 2006 Jun 1.

Department of Medical Genetics, Molecular and Cancer Biology Research Program, P,O, BOX 63, 00014 University of Helsinki, Finland.

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http://dx.doi.org/10.1186/1471-2407-6-145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1513590PMC
June 2006

BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.

Eur J Hum Genet 2006 Feb;14(2):167-72

Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1038/sj.ejhg.5201542DOI Listing
February 2006

BACH1 Ser919Pro variant and breast cancer risk.

BMC Cancer 2006 Jan 24;6:19. Epub 2006 Jan 24.

Department of Obstetrics, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1186/1471-2407-6-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1368988PMC
January 2006

A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.

Am J Hum Genet 2002 Aug 28;71(2):432-8. Epub 2002 Jul 28.

Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Haartmaninkatu 8, FIN-00029 HUS, Helsinki, Finland.

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http://dx.doi.org/10.1086/341943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379177PMC
August 2002