P Peltomaki

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. ncbi request reprint Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer
    P Peltomaki
    Department of Medical Genetics, Haartman Institute, Helsinki, Finland
    Gastroenterology 113:1146-58. 1997
  6. pmc DNA mismatch repair gene mutations in human cancer
    P Peltomaki
    Department of Medical Genetics, University of Helsinki, Finland
    Environ Health Perspect 105:775-80. 1997
  7. 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
  8. ncbi request reprint Mutations predisposing to hereditary nonpolyposis colorectal cancer
    P Peltomaki
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Adv Cancer Res 71:93-119. 1997
  9. ncbi request reprint DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
    M Nystrom-Lahti
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Hum Mol Genet 5:763-9. 1996
  10. pmc Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study
    A Gylling
    Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, P O Box 63 Haartmaninkatu 8, Helsinki 00014 Finland
    Gut 56:926-33. 2007

Research Grants

Collaborators

Detail Information

Publications17

  1. 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...
  2. 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...
  3. 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...
  4. 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...
  5. ncbi request reprint Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer
    P Peltomaki
    Department of Medical Genetics, Haartman Institute, Helsinki, Finland
    Gastroenterology 113:1146-58. 1997
    ..The rapidly increasing information about these mutations needs to be collected and appropriately stored to facilitate further studies on the biological and clinical significance of the findings...
  6. pmc DNA mismatch repair gene mutations in human cancer
    P Peltomaki
    Department of Medical Genetics, University of Helsinki, Finland
    Environ Health Perspect 105:775-80. 1997
    ..Genetic and biochemical characterization of the functions of normal and mutated MMR genes elucidates mechanisms of cancer development and provides tools for diagnostic applications...
  7. 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...
  8. ncbi request reprint Mutations predisposing to hereditary nonpolyposis colorectal cancer
    P Peltomaki
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Adv Cancer Res 71:93-119. 1997
    ..In at-risk individuals, it allows predictive testing for cancer susceptibility and, consequently, appropriate clinical management of mutation carriers and noncarriers...
  9. ncbi request reprint DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
    M Nystrom-Lahti
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Hum Mol Genet 5:763-9. 1996
    ..Third, our results indicate that the successive application of RT-PCR and 2-D DNA electrophoresis is a sensitive and efficient method for mutation screening in typical HNPCC...
  10. pmc Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study
    A Gylling
    Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, P O Box 63 Haartmaninkatu 8, Helsinki 00014 Finland
    Gut 56:926-33. 2007
    ..As gastric cancer is relatively common in the general population as well, it is not clear whether or not gastric cancer is a true HNPCC spectrum malignancy...
  11. pmc Genetic and clinical characterisation of familial adenomatous polyposis: a population based study
    A L Moisio
    Department of Medical Genetics, Biomedicum Helsinki, PO Box 63, FIN 00014 University of Helsinki, Finland
    Gut 50:845-50. 2002
    ..Familial adenomatous polyposis (FAP) is a rare autosomal dominantly inherited disease predisposing to colon cancer and caused by germline mutations in the APC (adenomatous polyposis coli) gene...
  12. ncbi request reprint Genetic polymorphisms in carcinogen metabolism and their association to hereditary nonpolyposis colon cancer
    A L Moisio
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Gastroenterology 115:1387-94. 1998
    ..The modifying role of genetic polymorphisms in loci involved in carcinogen metabolism was studied...
  13. pmc Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer
    A L Moisio
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Am J Hum Genet 59:1243-51. 1996
    ..Alternatively, the mutations arose elsewhere earlier and were introduced in Finland more recently...
  14. ncbi request reprint Chromosome 12 in human testicular cancer: dosage changes and their parental origin
    P Peltomaki
    Department of Medical Genetics, University of Helsinki, Finland
    Cancer Genet Cytogenet 64:21-6. 1992
    ..Furthermore, the observed patterns of allelic fragments suggested that the marker was an i(12p) formed by sister chromatids of one homolog number 12 rather than the result of interchange of genetic material between different homologues...
  15. ncbi request reprint Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach
    M Ollikainen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Oncogene 26:4541-9. 2007
    ..MALDI-TOF provides a novel approach for the detection and quantification of LOH...
  16. pmc Oncogenes in human testicular cancer: DNA and RNA studies
    P Peltomaki
    Department of Medical Genetics, University of Helsinki, Finland
    Br J Cancer 63:851-8. 1991
    ..It thus appears that while oncogene dosage changes occur in a proportion of testis cancers, they are often part of changes in large chromosomal regions or whole arms and are seldom accompanied by altered expression...
  17. ncbi request reprint Genetic mapping of a locus predisposing to human colorectal cancer
    P Peltomaki
    Department of Medical Genetics, University of Helsinki, Finland
    Science 260:810-2. 1993
    ..47 and 6.01. These results prove the existence of a genetically determined predisposition to colorectal cancer that has important ramifications for understanding and preventing this disease...

Research Grants3

  1. PREDISPOSING/MODIFYING GENES IN HEREDITARY COLON CANCER
    Paivi Peltomaki; Fiscal Year: 2001
    ..The aim is to identify genes that might modify the clinical phenotype of HNPCC, taking advantage of association and linkage-based approaches in these genetically homogeneous subsets of HNPCC patients. ..