World's Best Scientists 2026 revealed!
Päivi Peltomäki

Päivi Peltomäki

Award Badge
Genetics
Finland
2026

D-Index & Metrics

Genetics

D-Index
86
Citations
42826
World Ranking
1236
National Ranking
7

Medicine

D-Index
90
Citations
45151
World Ranking
11979
National Ranking
132

Research.com Recognitions

  • 2026 - Research.com Genetics in Finland Leader Award
  • 2025 - Research.com Genetics in Finland Leader Award
  • 2024 - Research.com Genetics in Finland Leader Award

Overview

Päivi Peltomäki is affiliated with the University of Helsinki in Finland and conducts research primarily in the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Their work focuses extensively on genetic factors influencing colorectal cancer, cancer genomics and diagnostics, and related areas within oncology and molecular biology.

The main areas of study covered in their research include:

  • Medicine
  • Biochemistry, Genetics and Molecular Biology

Within these fields, Päivi Peltomäki's research emphasizes subfields such as:

  • Pathology and Forensic Medicine
  • Cancer Research
  • Oncology
  • Molecular Biology
  • Surgery

The primary topics addressed in their publications revolve around:

  • Genetic factors in colorectal cancer
  • Cancer Genomics and Diagnostics
  • Colorectal Cancer Screening and Detection
  • Colorectal and Anal Carcinomas
  • Multiple and Secondary Primary Cancers
  • Colorectal Cancer Treatments and Studies
  • Epigenetics and DNA Methylation

Peltomäki has coauthored extensively with several researchers, who include:

  • Jukka-Pekka Mecklin
  • Anna Lepistö
  • Toni T. Seppälä
  • Alisa Olkinuora
  • Kirsi Pylvänäinen

Frequent venues for Peltomäki's publications are:

  • Gastroenterology
  • Cancers
  • Thyroid
  • International Journal of Cancer
  • Frontiers in Oncology

Among recent notable papers authored or coauthored by Päivi Peltomäki are:

  • "Lynch Syndrome Genetics and Clinical Implications," 2023, Gastroenterology
  • "Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome," 2020, Gastroenterology
  • "Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database," 2023, EClinicalMedicine
  • "Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium," 2022, Hereditary Cancer in Clinical Practice
  • "From APC to the genetics of hereditary and familial colon cancer syndromes," 2021, Human Molecular Genetics

Best Publications

  • Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability

    Asad Umar;C. Richard Boland;Jonathan P. Terdiman;Sapna Syngal

  • Clues to the pathogenesis of familial colorectal cancer

    Lauri A. Aaltonen;Päivi Peltomäki;Fredrick S. Leach;Pertti Sistonen

  • Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

    Fredrick S. Leach;Nicholas C. Nicolaides;Nickolas Papadopoulos;Bo Liu

  • Mutation of a mutL homolog in hereditary colon cancer

    Nickolas Papadopoulos;Nicholas C. Nicolaides;Ying Fei Wei;Steven M. Ruben

  • Aberrant CpG-island methylation has non-random and tumour-type-specific patterns.

    Joseph F. Costello;Joseph F. Costello;Michael C. Frühwald;Michael C. Frühwald;Dominic J. Smiraglia;Laura J. Rush

  • Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

    Heikki J. Järvinen;Markku Aarnio;Harri Mustonen;Katja Aktan–Collan‡

  • Cancer risk in mutation carriers of DNA-mismatch-repair genes.

    M. Aarnio;R. Sankila;E. Pukkala;R. Salovaara

  • Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

    L A Aaltonen;R Salovaara;P Kristo;F Canzian

  • Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

    Bo Liu;Ramon Parsons;Nickolas Papadopoulos;Nicholas C. Nicolaides

  • Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer

    Päivi Peltomäki;Lauri A. Aaltonen;Pertti Sistonen;Lea Pylkkänen

  • Mutations Predisposing to Hereditary Nonpolyposis Colorectal Cancer: Database and Results of a Collaborative Study

    Paivi Peltomaki;Hans F. A. Vasen

  • Role of DNA Mismatch Repair Defects in the Pathogenesis of Human Cancer

    Päivi Peltomäki

  • Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history.

    Ragnhild A. Lothe;Paivi Peltomaki;Gunn Iren Meling;Lauri A. Aaltonen

  • Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability

    Bo Liu;Nicholas C. Nicolaides;Sanford Markowitz;James K.V. Willson

  • Replication Errors in Benign and Malignant Tumors from Hereditary Nonpolyposis Colorectal Cancer Patients

    Lauri A. Aaltonen;Päivi Peltomäki;Jukka Pekka Mecklin;Heikki Järvinen

  • Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome.

    P Peltomäki;R A Lothe;L A Aaltonen;L Pylkkänen

  • Deficient DNA mismatch repair: a common etiologic factor for colon cancer

    Päivi Peltomäki

  • Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

    Päivi Peltomäki;Hans Vasen

  • Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

    Bryony A Thompson;Bryony A Thompson;Amanda B Spurdle;John-Paul Plazzer;Marc S Greenblatt

  • Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer.

    Hemminki A;Peltomäki P;Mecklin Jp;Järvinen H

Frequent Co-Authors

Jukka-Pekka Mecklin
Jukka-Pekka Mecklin University of Jyväskylä
Heikki Järvinen
Heikki Järvinen University of Helsinki
Albert de la Chapelle
Albert de la Chapelle The Ohio State University
Lauri A. Aaltonen
Lauri A. Aaltonen University of Helsinki
Sakari Knuutila
Sakari Knuutila University of Helsinki
Henry T. Lynch
Henry T. Lynch Creighton University
Pertti Sistonen
Pertti Sistonen Finnish Red Cross
Bert Vogelstein
Bert Vogelstein Johns Hopkins University
Ragnhild A. Lothe
Ragnhild A. Lothe University of Oslo
Ari Ristimäki
Ari Ristimäki University of Helsinki

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

A background in genetics opens the door to various healthcare careers and educational pathways, especially with the growing availability of flexible online programs. Many students look for options like an rn to bsn program without clinicals, which allows practicing nurses to complete their degree without the need for on-site clinical hours. This is ideal for those balancing work and study.

For aspiring leaders in nursing, the shortest online dnp program can be appealing, as it enables a quicker transition into high-demand roles. Similarly, busy professionals may benefit from online dnp programs without dissertation, eliminating a major academic barrier while still earning an advanced degree.

If you're looking for an entry point into healthcare, consider fast track medical assistant programs. These accelerated options offer quick access to jobs in clinics and hospitals, providing foundational experience that can complement your studies in genetics.

Best Scientists Citing Päivi Peltomäki

Trending Scientists