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Lauri A. Aaltonen

Lauri A. Aaltonen

D-Index & Metrics

Medicine

D-Index
125
Citations
71874
World Ranking
3043
National Ranking
35

Overview

Lauri A. Aaltonen is affiliated with the University of Helsinki in Finland and has made significant contributions to the fields of medicine and biochemistry, genetics, and molecular biology. Their research spans multiple subfields, including molecular biology, cancer research, pathology and forensic medicine, oncology, and genetics.

The scientist's work focuses extensively on genetic factors and their role in cancer, with particular emphasis on colorectal cancer, cancer genomics and diagnostics, and studies on uterine myomas and treatments. Additional topics of research include colorectal cancer treatments, RNA modifications related to cancer, BRCA gene mutations, and gynecological conditions and treatments.

Frequent co-authors in their research include:

  • Kadir C. Akdemir
  • Kimmo Palin
  • David J. Adams
  • Fátima Al-Shahrour
  • Malik Alawi

Their findings have been published across several prominent scientific venues. These include:

  • Nature Communications
  • Nature Genetics
  • Nature
  • Zenodo (CERN European Organization for Nuclear Research)
  • bioRxiv (Cold Spring Harbor Laboratory)

Among recent publications are:

  • "Pan-cancer analysis of whole genomes," published in 2020 in Nature
  • "The repertoire of mutational signatures in human cancer," published in 2020 in Nature
  • "Patterns of somatic structural variation in human cancer genomes," published in 2020 in Nature
  • "Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing," published in 2020 in Nature Genetics
  • "Comprehensive molecular characterization of mitochondrial genomes in human cancers," published in 2020 in Nature Genetics

Best Publications

  • Clues to the pathogenesis of familial colorectal cancer

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

  • Pan-cancer analysis of whole genomes

    Peter J. Campbell;Gad Getz;Jan O. Korbel;Joshua M. Stuart

  • Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

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

  • A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

    A Hemminki;D Markie;I Tomlinson;E Avizienyte

  • Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

    Tomlinson Ip;Alam Na;Rowan Aj;Barclay E

  • Pathology and genetics of tumours of the digestive system

    Stanley R. Hamilton;Lauri A. Aaltonen

  • 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

  • Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer

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

  • Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

    James R. Howe;Stina Roth;John C. Ringold;Robert W. Summers

  • Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

    Oliver M Sieber;Lara Lipton;Michael Crabtree;Karl Heinimann

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

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

  • Patterns of somatic structural variation in human cancer genomes

    Yilong Li;Nicola D Roberts;Jeremiah A Wala;Jeremiah A Wala;Ofer Shapira;Ofer Shapira

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

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

  • Life‐time risk of different cancers in hereditary non‐polyposis colorectal cancer (hnpcc) syndrome

    Markku Aarnio;Jukka-Pekka Mecklin;Lauri A. Aaltonen;Minna Nyström-Lahti

  • 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

  • Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer

    Reijo Salovaara;Anu Loukola;Paula Kristo;Helena Kääriäinen

  • Inherited susceptibility to uterine leiomyomas and renal cell cancer

    Virpi Launonen;Outi Vierimaa;Maija Ht Kiuru;Jorma Isola

  • MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.

    Netta Mäkinen;Miika Mehine;Jaana Tolvanen;Eevi Kaasinen

Frequent Co-Authors

Jukka-Pekka Mecklin
Jukka-Pekka Mecklin University of Jyväskylä
Heikki Järvinen
Heikki Järvinen University of Helsinki
Ian Tomlinson
Ian Tomlinson University of Oxford
Richard S. Houlston
Richard S. Houlston Institute of Cancer Research
Jussi Taipale
Jussi Taipale University of Cambridge
Päivi Peltomäki
Päivi Peltomäki University of Helsinki
Kristiina Aittomäki
Kristiina Aittomäki University of Helsinki
Torben F. Ørntoft
Torben F. Ørntoft Aarhus University
Malcolm G. Dunlop
Malcolm G. Dunlop University of Edinburgh
Ari Ristimäki
Ari Ristimäki University of Helsinki

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