arvsmutationsyndrom

Arvsmutationsyndrom is a term used to describe a group of disorders caused by inherited germline mutations. These mutations are present in every cell from birth and can be transmitted to offspring. Such syndromes raise the risk of developing certain diseases, most often cancer, and can lead to disease at a younger age than usual. Inheritance is usually autosomal dominant, meaning a parent with the mutation has about a 50 percent chance of passing it to each child, though autosomal recessive and X-linked patterns also occur. Penetrance and clinical expression vary, so individuals with the same mutation may experience different diseases or severities.

Diagnosis relies on family history and genetic testing, often prompted by several relatives with related cancers or by early-onset disease. Once a mutation is identified, management focuses on surveillance, risk assessment, and prevention tailored to the syndrome and the person. This can include targeted screening, lifestyle measures, chemoprevention where appropriate, and sometimes risk-reducing surgery. Family members may pursue predictive testing to learn their own risk.

Examples include Lynch syndrome, caused by mutations in mismatch repair genes (MLH1, MSH2, MSH6, PMS2, or EPCAM) with higher colorectal and endometrial cancer risk; BRCA1/BRCA2-related syndromes with increased breast and ovarian cancer risk; familial adenomatous polyposis (APC) with many colon polyps and high colorectal cancer risk; and Li-Fraumeni syndrome (TP53) with a broad cancer spectrum. Arvsmutationsyndromer require multidisciplinary care and genetic counseling to guide surveillance and prevention.