Viktigt att upptäcka ärftliga fall av kolorektal- och endometriecancer. Mutationer hos »HNPCC-individer» kan orsaka flera tumörsjukdomar

Research output: Contribution to journalArticle

Abstract

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is one of our most common hereditary cancer syndromes and confers an increased risk for several tumor types, with the greatest lifetime risks being for colorectal cancer and endometrial cancer. Hereditary mutations in one of several mismatch-repair (MMR) genes cause the syndrome, and 39 such mutations, involving the genes MLH1, MSH2 and MSH6, have been been characterized in Sweden. Screening programs for HNPCC have been shown to be cost-effective and to prevent cancer. Identification of HNPCC individuals thus allows prevention of additional tumors in the patient as well as in the family.

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Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology

Keywords

  • Genetic Screening: economics, Genetic Predisposition to Disease, prevention & control, Genetic Counseling, Hereditary Nonpolyposis: complications, genetics, pathology, Cost-Benefit Analysis, Endometrial Neoplasms: genetics, Mutation: genetics, Base Pair Mismatch, Colorectal Neoplasms: genetics, Colorectal Neoplasms
Translated title of the contributionEssential to discover hereditary colorectal and endometrial cancer.
Original languageSwedish
Pages (from-to)3296-300
JournalLäkartidningen
Volume99
Issue number34
Publication statusPublished - 2002
Publication categoryResearch
Peer-reviewedYes