Lauri A. Aaltonen

Research interests

Publications

• Comprehensive molecular characterization of mitochondrial genomes in human cancers

  Nature Genetics · 2020 · https://doi.org/10.1038/s41588-019-0557-x

• Pan-cancer analysis of whole genomes

  Nature · 2020 · https://doi.org/10.1038/s41586-020-1969-6

• Patterns of somatic structural variation in human cancer genomes

  Nature · 2020 · https://doi.org/10.1038/s41586-019-1913-9

• Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

  Nature Genetics · 2020 · https://doi.org/10.1038/s41588-019-0576-7

• The repertoire of mutational signatures in human cancer

  Nature · 2020 · https://doi.org/10.1038/s41586-020-1943-3

• Identification of Lynch Syndrome Among Patients With Colorectal Cancer

  JAMA · 2012 · 10.1001/jama.2012.13088

• MED12 , the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas

  Science · 2011 · 10.1126/science.1208930

• A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

  Nature Genetics · 2008 · 10.1038/ng.111

• Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene

  Science · 2006 · 10.1126/science.1126100

• Multiple Colorectal Adenomas, Classic Adenomatous Polyposis, and Germ-Line Mutations inMYH

  New England Journal of Medicine · 2003 · 10.1056/nejmoa025283

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

  Nature Genetics · 2002 · 10.1038/ng849

• Inherited susceptibility to uterine leiomyomas and renal cell cancer

  Proceedings of the National Academy of Sciences · 2001 · 10.1073/pnas.051633798

• Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer

  Journal of Clinical Oncology · 2000 · 10.1200/jco.2000.18.11.2193

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

  Gastroenterology · 2000 · 10.1016/s0016-5085(00)70168-5

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

  International Journal of Cancer · 1999 · 10.1002/(sici)1097-0215(19990412)81:2<214::aid-ijc8>3.0.co;2-l

• Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis

  Science · 1998 · 10.1126/science.280.5366.1086

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

  New England Journal of Medicine · 1998 · 10.1056/nejm199805213382101

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

  Nature · 1998 · https://doi.org/10.1038/34432

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

  International Journal of Cancer · 1995 · 10.1002/ijc.2910640613

• Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.

  PubMed · 1994

• Clues to the Pathogenesis of Familial Colorectal Cancer

  Science · 1993 · https://doi.org/10.1126/science.8484121

• Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer

  Science · 1993 · 10.1126/science.8484120

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

  PubMed · 1993

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

  PubMed · 1993

• Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

  Cell · 1993 · https://doi.org/10.1016/0092-8674(93)90330-s

Current projects

No projects listed.