Genetic anticipation in Swedish Lynch syndrome families

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von Salome, Jenny ; Boonstra, Philip S. ; Karimi, Masoud ; Silander, Gustav ; Stenmark Askmalm, Marie ; Gebre-Medhin, Samuel ; Aravidis, Christos ; Nilbert, Mef ; Lindblom, Annika ; Lagerstedt-Robinson, Kristina (2017)
  • Publisher: PUBLIC LIBRARY SCIENCE
  • Journal: volume 13, issue 10 (issn: 1553-7390, eissn: 1553-7404)
  • Related identifiers: pmc: PMC5681299, doi: 10.1371/journal.pgen.1007012
  • Subject: Mutation/genetics | Genetic Diseases | Human Genetics | Colorectal Neoplasms, Hereditary Nonpolyposis/genetics | Research Article | Diagnostic Medicine | Cancer och onkologi | Autosomal Dominant Diseases | Neoplasms/etiology | DNA Mismatch Repair/genetics | Mismatch Repair | Sequence Deletion/genetics | Cancer Risk Factors | DNA repair | Oncology | Anticipation, Genetic/genetics | QH426-470 | Genetics | Genetic Causes of Cancer | Genetic Testing/methods | Sweden | DNA | Cancer Detection and Diagnosis | Cancers and Neoplasms | Female | /dk/atira/pure/researchoutput/pubmedpublicationtype/D016428 | Biology and life sciences | Colorectal Cancer | DNA-Binding Proteins/genetics | Middle Aged | Nucleic acids | Heredity | Cancer and Oncology | Mutation | Medical Genetics | Medicinsk genetik | Clinical Genetics | Biochemistry | Journal Article | Medicine and Health Sciences | Humans | Male | Hereditary Nonpolyposis Colorectal Cancer
    mesheuropmc: congenital, hereditary, and neonatal diseases and abnormalities | digestive system diseases

Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also oth... View more