Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort.

Autor: Sipilä LJ; Department of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.; Applied Tumor Genomics, Research Programs Unit, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.; Finnish Cancer Registry, Unioninkatu 22, 00130, Helsinki, Finland., Aavikko M; Department of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.; Applied Tumor Genomics, Research Programs Unit, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Ravantti J; Department of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.; Applied Tumor Genomics, Research Programs Unit, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, FI-00014, Helsinki, Finland., Martin S; Department of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.; Applied Tumor Genomics, Research Programs Unit, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland., Kuopio T; Central Finland Biobank, Wellbeing Services County of Central Finland and University of Jyväskylä, Jyväskylä, Finland., Lahtinen L; Department of Pathology, Wellbeing Services County of Central Finland, Jyväskylä, Finland., FinnGen; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Peltomäki P; Department of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.; HUSLAB Laboratory of Genetics, HUS Diagnostic Center, HUS, Helsinki University Hospital, 00029, Helsinki, Finland., Mecklin JP; Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, Finland.; Department of Surgery, Nova Hospital, Jyväskylä, Finland., Aaltonen LA; Department of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.; Applied Tumor Genomics, Research Programs Unit, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland.; iCAN Digital Precision Cancer Medicine Flagship, University of Helsinki, 00290, Helsinki, Finland., Seppälä TT; Applied Tumor Genomics, Research Programs Unit, University of Helsinki, Biomedicum Helsinki Haartmaninkatu 8), PO Box 63, 00014, Helsinki, Finland. toni.seppala@helsinki.fi.; iCAN Digital Precision Cancer Medicine Flagship, University of Helsinki, 00290, Helsinki, Finland. toni.seppala@helsinki.fi.; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland. toni.seppala@helsinki.fi.; Tays Cancer Centre, Tampere University Hospital, Tampere, Finland. toni.seppala@helsinki.fi.; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland. toni.seppala@helsinki.fi.; Department of Gastroenterology and Alimentary Tract Surgery, Tampere University Hospital, Tampere, Finland. toni.seppala@helsinki.fi.

Publikováno v: Familial cancer [Fam Cancer] 2024 Nov; Vol. 23 (4), pp. 647-652. Date of Electronic Publication: 2024 Jun 07.

Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology.

Autor: Donner I; Department of Medical and Clinical Genetics, Medicum, 3835University of Helsinki, Helsinki, Finland.; Genome-Scale Biology Research Program, Research Programs Unit, 3835University of Helsinki, Helsinki, Finland., Sipilä LJ; Department of Medical and Clinical Genetics, Medicum, 3835University of Helsinki, Helsinki, Finland.; Genome-Scale Biology Research Program, Research Programs Unit, 3835University of Helsinki, Helsinki, Finland., Plaketti RM; Department of Medical and Clinical Genetics, Medicum, 3835University of Helsinki, Helsinki, Finland.; Genome-Scale Biology Research Program, Research Programs Unit, 3835University of Helsinki, Helsinki, Finland., Kuosmanen A; Department of Medical and Clinical Genetics, Medicum, 3835University of Helsinki, Helsinki, Finland.; Genome-Scale Biology Research Program, Research Programs Unit, 3835University of Helsinki, Helsinki, Finland., Forsström L; Department of Medical and Clinical Genetics, Medicum, 3835University of Helsinki, Helsinki, Finland.; Genome-Scale Biology Research Program, Research Programs Unit, 3835University of Helsinki, Helsinki, Finland., Katainen R; Department of Medical and Clinical Genetics, Medicum, 3835University of Helsinki, Helsinki, Finland.; Genome-Scale Biology Research Program, Research Programs Unit, 3835University of Helsinki, Helsinki, Finland., Kuismin O; Department of Clinical Genetics, 60664Oulu University Hospital, Oulu, Finland.; PEDEGO Research Unit, Medical Research Center Oulu, 60664Oulu University Hospitaland University of Oulu, Oulu, Finland., Aavikko M; Department of Medical and Clinical Genetics, Medicum, 3835University of Helsinki, Helsinki, Finland.; Genome-Scale Biology Research Program, Research Programs Unit, 3835University of Helsinki, Helsinki, Finland.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, 3835University of Helsinki, Helsinki, Finland., Romsi P; Department of Vascular Surgery, 60664Oulu University Hospital, Oulu, Finland., Kariniemi J; Department of Radiology, 60664Oulu University Hospital, Oulu, Finland., Aaltonen LA; Department of Medical and Clinical Genetics, Medicum, 3835University of Helsinki, Helsinki, Finland.; Genome-Scale Biology Research Program, Research Programs Unit, 3835University of Helsinki, Helsinki, Finland.

Publikováno v: Vascular [Vascular] 2022 Oct; Vol. 30 (5), pp. 842-847. Date of Electronic Publication: 2021 Jul 19.

WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.

Autor: Aavikko M; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Sciences (HiLIFE), University of Helsinki, FI-00014 Helsinki, Finland., Kaasinen E; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland., Andersson N; Department of Pathology, Medicum, University of Helsinki, FI-00014 Helsinki, Finland., Pentinmikko N; Institute of Biotechnology, Helsinki Institute of Life Sciences (HiLIFE), University of Helsinki, FI-00014 Helsinki, Finland., Sulo P; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland., Donner I; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland., Pihlajamaa P; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Department of Biochemistry, University of Cambridge, Cambridge CB2 1GA, UK., Kuosmanen A; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland., Bramante S; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland., Katainen R; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland., Sipilä LJ; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland., Martin S; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland., Arola J; Department of Pathology, HUSLAB, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, 00290 Helsinki, Finland., Carpén O; Department of Pathology, HUSLAB, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, 00290 Helsinki, Finland.; Research Program in Systems Oncology, University of Helsinki, FI-00014 Helsinki, Finland., Heiskanen I; Endocrine Surgery, Abdominal Center, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland., Mecklin JP; Department of Surgery, Central Finland Central Hospital, 40620 Jyväskylä, Finland.; Faculty of Sport and Health Sciences, University of Jyväskylä, FI-40014 Jyväskylä, Finland., Taipale J; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Department of Biochemistry, University of Cambridge, Cambridge CB2 1GA, UK., Ristimäki A; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Department of Pathology, HUSLAB, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, 00290 Helsinki, Finland., Lehti K; Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, 171 77 Stockholm, Sweden.; Individualized Drug Therapy Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland., Gucciardo E; Individualized Drug Therapy Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland., Katajisto P; Institute of Biotechnology, Helsinki Institute of Life Sciences (HiLIFE), University of Helsinki, FI-00014 Helsinki, Finland.; Department of Biosciences and Nutrition, Karolinska Institutet, 141 83 Huddinge, Sweden.; Faculty of Biological and Environmental Sciences, University of Helsinki, FI-00014 Helsinki, Finland.; Department of Cell and Molecular Biology, Karolinska Institutet, 171 77 Stockholm, Sweden., Schalin-Jäntti C; Endocrinology, Abdominal Center, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland., Vahteristo P; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland., Aaltonen LA; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, FI-00014 Helsinki, Finland.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2021 Nov 30; Vol. 30 (24), pp. 2429-2440.

Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing.

Autor: Rinne SJ; Applied Tumor Genomics Research Program and, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Sipilä LJ; Applied Tumor Genomics Research Program and, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Sulo P; Applied Tumor Genomics Research Program and, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR-1163, Paris, France.; University Paris Descartes, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR-1163, Paris, France.; University Paris Descartes, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR-1163, Paris, France.; University Paris Descartes, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR-1163, Paris, France.; University Paris Descartes, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York.; Howard Hughes Medical Institute, New York, New York.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, , Tehran, Iran.; Research Center for Immunodeficiencies, Tehran, Iran., Balighi K; Department of Dermatology, Razi Hospital, and, Tehran, Iran.; Autoimmune Bullous Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran., Guttman-Yassky E; Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, New York.; Laboratory for Inflammatory Skin Diseases, Icahn School of Medicine at Mount Sinai, New York, New York., Sarid R; The Mina and Everard Goodman Faculty of Life Sciences & Advanced Materials and Nanotechnology Institute, Bar-Ilan University, Ramat-Gan, Israel., Aaltonen LA; Applied Tumor Genomics Research Program and, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Aavikko M; Applied Tumor Genomics Research Program and, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.

Publikováno v: Open forum infectious diseases [Open Forum Infect Dis] 2019 Jul 17; Vol. 6 (10), pp. ofz337. Date of Electronic Publication: 2019 Jul 17 (Print Publication: 2019).

Germline mutations in young non-smoking women with lung adenocarcinoma.

Autor: Donner I; Department of Medical and Clinical Genetics, Medicum, and Genome-Scale Biology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Katainen R; Department of Medical and Clinical Genetics, Medicum, and Genome-Scale Biology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Sipilä LJ; Department of Medical and Clinical Genetics, Medicum, and Genome-Scale Biology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Aavikko M; Department of Medical and Clinical Genetics, Medicum, and Genome-Scale Biology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Pukkala E; Finnish Cancer Registry, Institute for Statistical and Epidemiological Cancer Research, Helsinki, Finland; Faculty of Social Sciences, University of Tampere, Tampere, Finland., Aaltonen LA; Department of Medical and Clinical Genetics, Medicum, and Genome-Scale Biology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki, Helsinki, Finland. Electronic address: lauri.aaltonen@helsinki.fi.

Publikováno v: Lung cancer (Amsterdam, Netherlands) [Lung Cancer] 2018 Aug; Vol. 122, pp. 76-82. Date of Electronic Publication: 2018 May 31.