Paivi Peltomaki

Summary

Country: Finland

Publications

  1. ncbi request reprint 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. ncbi request reprint 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
  3. ncbi request reprint 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
  4. ncbi request reprint 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
  5. doi request reprint 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
  6. 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
  7. ncbi request reprint 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
  8. 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
  9. doi request reprint 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
  10. ncbi request reprint 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

Collaborators

Detail Information

Publications23

  1. ncbi request reprint 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. ncbi request reprint 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...
  3. ncbi request reprint 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...
  4. ncbi request reprint 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...
  5. doi request reprint 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...
  6. 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...
  7. ncbi request reprint 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...
  8. 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...
  9. doi request reprint 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...
  10. ncbi request reprint 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...
  11. doi request reprint 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...
  12. ncbi request reprint 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..
  13. ncbi request reprint 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...
  14. 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...
  15. doi request reprint 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...
  16. 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
    ....
  17. doi request reprint 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...
  18. ncbi request reprint 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
    ....
  19. ncbi request reprint 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...
  20. ncbi request reprint 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...
  21. doi request reprint 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...
  22. doi request reprint 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
    ....
  23. 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...