Lauri A. Aaltonen
University of Helsinki
396 Papers
3.2K Citations
Lauri A. Aaltonen is an academic researcher from University of Helsinki. The author has contributed to research in topics: Germline mutation & Cancer. The author has an hindex of 103, co-authored 371 publications. Previous affiliations of Lauri A. Aaltonen include Harvard University & Karolinska Institutet.
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Papers
Systematic search for rare variants in Finnish early-onset colorectal cancer patients
Tomas Tanskanen,Alexandra E. Gylfe,Riku Katainen,Minna Taipale,Minna Taipale,Laura Renkonen-Sinisalo,Laura Renkonen-Sinisalo,Heikki Järvinen,Jukka-Pekka Mecklin,Jan Böhm,Outi Kilpivaara,Esa Pitkänen,Kimmo Palin,Pia Vahteristo,Sari Tuupanen,Lauri A. Aaltonen +15 more
TL;DR: Genetic heterogeneity in unexplained early-onset CRC patients is suggested, thus emphasizing the requirement for large sample sizes and careful study designs to elucidate the role of rare variants in CRC susceptibility.
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Characterization of the 17p amplicon in human sarcomas: microsatellite marker analysis.
Maija Wolf,Maija Tarkkanen,Theo J. M. Hulsebos,Marcelo L. Larramendy,Anne Forus,Ola Myklebost,Lauri A. Aaltonen,Inkeri Elomaa,Sakari Knuutila +8 more
TL;DR: The results reveal the complexity of the 17p amplicon in sarcomas, suggesting that multiple target genes are involved in tumorigenesis.
27
A Novel Functionally Deficient MYH Variant in Individuals With Colorectal Adenomatous Polyposis
Pia Alhopuro,Antony R. Parker,Rainer Lehtonen,Susa Enholm,Heikki Järvinen,Jukka-Pekka Mecklin,Auli Karhu,James R. Eshleman,Lauri A. Aaltonen +8 more
TL;DR: Screening of mutations in MYH exon 14 should be added to the molecular analysis at‐risk individuals, supporting a key role for the codon 459 in MyH function.
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Candidate susceptibility variants for esophageal squamous cell carcinoma
Iikki Donner,Riku Katainen,Tomas Tanskanen,Eevi Kaasinen,Mervi Aavikko,Kristian Ovaska,Miia Artama,Eero Pukkala,Lauri A. Aaltonen +8 more
TL;DR: This study collected archival tissue material and exome sequenced a total of 30 ESCC cases to identify candidate susceptibility variants and prioritized shared, deleterious and rare variants that were significantly enriched in the sample set compared to Finnish and population subset specific controls.
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Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)
Stian Knappskog,Liv Beathe Gansmo,Khadizha Dibirova,Andres Metspalu,Cezary Cybulski,Paolo Peterlongo,Lauri A. Aaltonen,Lars J. Vatten,Pål Richard Romundstad,Kristian Hveem,Peter Devilee,Gareth D. Evans,Dongxin Lin,Guy Van Camp,Vangelis G. Manolopoulos,Ana Osorio,Lili Milani,Tayfun Ozcelik,Pierre Zalloua,Francis Mouzaya,E. A. Bliznetz,Elena Balanovska,Elvira Pocheshkova,Vaidutis Kučinskas,L. A. Atramentova,Pagbajabyn Nymadawa,Konstantin Titov,Maria Lavryashina,Yuldash Yusupov,Natalia Bogdanova,S. M. Koshel,Jorge Zamora,David C. Wedge,Deborah Charlesworth,Thilo Dörk,Oleg Balanovsky,Per Eystein Lønning +36 more
TL;DR: SNP285C was found to be a pan-Caucasian variant and ethnic variation regarding distribution of SNP285C needs to be taken into account when assessing the impact of MDM2 SNPs on cancer risk.