Paivi Peltomaki

Summary

Country: Finland

Publications

  1. ncbi Role of DNA mismatch repair defects in the pathogenesis of human cancer
    Paivi Peltomaki
    Department of Medical Genetics, University of Helsinki, Finland
    J Clin Oncol 21:1174-9. 2003
  2. pmc Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability
    Shannon A Kuismanen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Am J Pathol 160:1953-8. 2002
  3. ncbi Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein
    Tiina E Raevaara
    Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland
    Gastroenterology 125:501-9. 2003
  4. ncbi Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1
    Tiina E Raevaara
    Department of Biological and Environmental Sciences, University of Helsinki, Finland
    Gastroenterology 129:537-49. 2005
  5. ncbi Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?
    Miina Ollikainen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    J Clin Oncol 23:4609-16. 2005
  6. pmc Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database
    Paivi Peltomaki
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Dis Markers 20:269-76. 2004
  7. ncbi Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein
    Saara Ollila
    Department of Biological and Environmental Sciences, Genetics, University of Helsinki, Helsinki, Finland
    Gastroenterology 131:1408-17. 2006
  8. ncbi Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations
    Wael M Abdel-Rahman
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Oncogene 24:1542-51. 2005
  9. doi Distinct molecular profiles in Lynch syndrome-associated and sporadic ovarian carcinomas
    Anni Niskakoski
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Int J Cancer 133:2596-608. 2013
  10. ncbi APC and beta-catenin protein expression patterns in HNPCC-related endometrial and colorectal cancers
    Reetta Kariola
    Department of Biological and Environmental Sciences, Genetics, University of Helsinki, Viikinkaari 5, 00014 Helsinki, Finland
    Fam Cancer 4:187-90. 2005

Collaborators

Detail Information

Publications35

  1. ncbi Role of DNA mismatch repair defects in the pathogenesis of human cancer
    Paivi Peltomaki
    Department of Medical Genetics, University of Helsinki, Finland
    J Clin Oncol 21:1174-9. 2003
    ..An updated review of the different features of the human MMR system will be provided, with the emphasis on their implications in cancer development...
  2. pmc Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability
    Shannon A Kuismanen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Am J Pathol 160:1953-8. 2002
    ..The different instability profiles in endometrial and colorectal cancers despite identical genetic predisposition underlines organ-specific differences that may be important determinants of the HNPCC tumor spectrum...
  3. ncbi Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein
    Tiina E Raevaara
    Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland
    Gastroenterology 125:501-9. 2003
    ..Because the predicted coding change is a deletion of only 1 amino acid, the pathogenicity of the mutation was evaluated...
  4. ncbi Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1
    Tiina E Raevaara
    Department of Biological and Environmental Sciences, University of Helsinki, Finland
    Gastroenterology 129:537-49. 2005
    ....
  5. ncbi Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?
    Miina Ollikainen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    J Clin Oncol 23:4609-16. 2005
    ..Clustering of EC alone, termed as familial site-specific EC, may constitute a separate entity. Because its genetic basis is unknown, our purpose was to characterize such families molecularly...
  6. pmc Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database
    Paivi Peltomaki
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Dis Markers 20:269-76. 2004
    ..The present update of the database of DNA mismatch repair gene mutations of INSiGHT includes 448 mutations that primarily involve MLH1 (50%), MSH2 (39%), and MSH6 (7%) and occur in 748 families from different parts of the world...
  7. ncbi Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein
    Saara Ollila
    Department of Biological and Environmental Sciences, Genetics, University of Helsinki, Helsinki, Finland
    Gastroenterology 131:1408-17. 2006
    ..The present study was undertaken to evaluate the pathogenicity of inherited missense mutations in MSH2...
  8. ncbi Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations
    Wael M Abdel-Rahman
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Oncogene 24:1542-51. 2005
    ..This feature distinguishes the MMR gene mutation negative families from both HNPCC families linked to MMR defects and sporadic cases, suggesting the involvement of novel predisposition genes and pathways in such families...
  9. doi Distinct molecular profiles in Lynch syndrome-associated and sporadic ovarian carcinomas
    Anni Niskakoski
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Int J Cancer 133:2596-608. 2013
    ..In conclusion, the significant molecular differences observed between LS-associated and sporadic ovarian carcinomas help explain the different behavior of these tumors and emphasize the need for tailored clinical management. ..
  10. ncbi APC and beta-catenin protein expression patterns in HNPCC-related endometrial and colorectal cancers
    Reetta Kariola
    Department of Biological and Environmental Sciences, Genetics, University of Helsinki, Viikinkaari 5, 00014 Helsinki, Finland
    Fam Cancer 4:187-90. 2005
    ..Here, we studied the involvement of APC and beta-catenin in hereditary nonpolyposis colorectal cancer (HNPCC)-related ECs, and compared the expression patterns to those in HNPCC-related CRCs...
  11. ncbi Epigenetic signatures of familial cancer are characteristic of tumor type and family category
    Emmi I Joensuu
    Department of Medical Genetics, University of Helsinki, Finland
    Cancer Res 68:4597-605. 2008
    ..Paired normal tissues or blood displayed negligible methylation arguing against a constitutional methylation abnormality in familial cases...
  12. ncbi Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous
    Elise T Renkonen
    Department of Medical Genetics, Institute of Dentistry, Biomedicum Helsinki, PO Box 63 Haartmaninkatu 8, FIN 00014 University of Helsinki, Helsinki, Finland
    J Clin Oncol 23:5651-9. 2005
    ..Our purpose was to clarify the genetic basis of polyposis and genotype-phenotype correlations in such families...
  13. pmc Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases
    Johanna E Lotsari
    Department of Medical Genetics, Biomedicum Helsinki, P, O, Box 63 Haartmaninkatu 8, University of Helsinki, Helsinki, Finland, FIN 00014
    Breast Cancer Res 14:R90. 2012
    ..This study aimed to settle the question as to whether breast carcinoma belongs to the LS tumor spectrum...
  14. doi 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...
  15. ncbi Truncation of MBD4 predisposes to reciprocal chromosomal translocations and alters the response to therapeutic agents in colon cancer cells
    Wael M Abdel-Rahman
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    DNA Repair (Amst) 7:321-8. 2008
    ..We also show that over-expression of MBD4(tru) in DLD1 alters the colony survival after exposure to cisplatin or etoposide. These data suggest a wide role for MBD4 in DNA damage response and maintaining chromosomal stability...
  16. ncbi The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC
    Saara Ollila
    Department of Biological and Environmental Sciences, Genetics, University of Helsinki, Helsinki, Finland
    Int J Oncol 28:149-53. 2006
    ..Both mutations were completely deficient in an MMR assay, which together with tumor findings suggested their predisposing role in both internal and skin malignancies in the families...
  17. doi Distinct genetic and epigenetic signatures of colorectal cancers according to ethnic origin
    Taina T Nieminen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Cancer Epidemiol Biomarkers Prev 21:202-11. 2012
    ..The outcome of colorectal cancer varies depending on ethnic origin. Egyptian colorectal carcinoma is surprisingly young-age disease with high proportion of rectal and advanced stage cancers...
  18. doi Somatic FGF9 mutations in colorectal and endometrial carcinomas associated with membranous beta-catenin
    Wael M Abdel-Rahman
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Hum Mutat 29:390-7. 2008
    ..These data suggest that FGF9 plays a role in colorectal and endometrial carcinogenesis...
  19. ncbi Restoring mismatch repair does not stop the formation of reciprocal translocations in the colon cancer cell line HCA7 but further destabilizes chromosome number
    Wael M Abdel-Rahman
    Department of Medical Genetics, Helsinki University, Helsinki, Finland
    Oncogene 24:706-13. 2005
    ..Thus, the accumulating data suggest that MMR defect may not be necessary for the development of reciprocal chromosomal translocations but might be permissive...
  20. ncbi Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study
    Katja Aktan-Collan
    Department of Medical Genetics, Haartman Institute Biomedicum, University of Helsinki, PO Box 63, FIN 00014, Helsinki, Finland
    Fam Cancer 12:639-46. 2013
    ..Some non-carriers were still worried about their risk and had doubts about the validity of their genetic testing results predicting post-test colonoscopy...
  21. ncbi The genetics of HNPCC: application to diagnosis and screening
    Wael M Abdel-Rahman
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Crit Rev Oncol Hematol 58:208-20. 2006
    ..This subset of tumors is the focus of current clinical and molecular research. This review addresses recent advances in the field of HNPCC research and their applications in the management of affected individuals and families...
  22. ncbi Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer
    Elise Renkonen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    J Clin Oncol 21:3629-37. 2003
    ..Our purpose was to address the genetic etiology of such families. Materials and..
  23. pmc LINE-1 hypomethylation in familial and sporadic cancer
    Walter Pavicic
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, PO Box 63 00014, Finland
    J Mol Med (Berl) 90:827-35. 2012
    ..Our results suggest that the degree of LINE-1 methylation may constitute a "field defect" that may predispose normal tissues for cancer development...
  24. pmc Altered methylation at microRNA-associated CpG islands in hereditary and sporadic carcinomas: a methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)-based approach
    Walter Pavicic
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Mol Med 17:726-35. 2011
    ....
  25. doi Molecular analysis of endometrial tumorigenesis: importance of complex hyperplasia regardless of atypia
    Taina T Nieminen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Clin Cancer Res 15:5772-83. 2009
    ..We characterized precursor lesions of endometrioid EC to identify markers of malignant transformation and tumor progression...
  26. 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...
  27. doi Large genomic rearrangements and germline epimutations in Lynch syndrome
    Annette Gylling
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Int J Cancer 124:2333-40. 2009
    ..Our findings have important implications in the diagnosis and management of such families...
  28. ncbi HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1
    Tiina E Raevaara
    Department of Biosciences, Division of Genetics, University of Helsinki, Helsinki, Finland
    Genes Chromosomes Cancer 40:261-5. 2004
    ....
  29. ncbi Molecular basis and diagnostics of hereditary colorectal cancers
    Wael M Abdel-Rahman
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Ann Med 36:379-88. 2004
    ..This review addresses the molecular basis of these syndromes with particular reference to the recent advances in this rapidly progressive field and the applications of such knowledge in diagnosis and management...
  30. ncbi Patterns of PIK3CA alterations in familial colorectal and endometrial carcinoma
    Miina Ollikainen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Int J Cancer 121:915-20. 2007
    ..PIK3CA alterations frequently coexisted with PTEN or KRAS changes. Combined with published studies on sporadic tumors, our data broaden the understanding of the role for PI3K pathway genes in human tumorigenesis...
  31. ncbi Lynch syndrome genes
    Paivi Peltomaki
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, P O Box 63, Haartmaninkatu 8, 00014, Finland
    Fam Cancer 4:227-32. 2005
    ..Despite these advances, much is yet to be learned about the molecular basis of correlations between genetic changes and clinical features of the disease...
  32. pmc Cancer-predicting gene expression changes in colonic mucosa of Western diet fed Mlh1+/- mice
    Marjaana Pussila
    Department of Biosciences, University of Helsinki, Helsinki, Finland
    PLoS ONE 8:e76865. 2013
    ....
  33. doi Mutations and epimutations in the origin of cancer
    Paivi Peltomaki
    Department of Medical Genetics, Haartman Institute, P O Box 63 Haartmaninkatu 8, FI 00014 University of Helsinki, Finland
    Exp Cell Res 318:299-310. 2012
    ..This review discusses genetic vs. epigenetic origin of cancer, including cancer susceptibility, in light of recent discoveries. Situations in which mutations and epimutations occur to serve analogous purposes are highlighted...
  34. ncbi Clinicopathological characterization and genomic aberrations in subcutaneous panniculitis-like T-cell lymphoma
    Sonja Hahtola
    Department of Dermatology and Allergology, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    J Invest Dermatol 128:2304-9. 2008
    ....
  35. ncbi 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...