Lynchsündroomi

Lynchsündroomi, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited condition that increases the risk of developing several types of cancer. It is caused by mutations in genes that are responsible for repairing damaged DNA. These genes are crucial for maintaining the stability of a person's genetic material. When these genes are faulty, errors in DNA can accumulate, leading to uncontrolled cell growth and cancer.

Individuals with Lynchsündroomi have a significantly higher lifetime risk of developing colorectal cancer, as well as cancers of the endometrium (womb), ovaries, stomach, small intestine, liver, bile duct, upper urinary tract, prostate, and brain. The age at which these cancers develop is often younger than in the general population. The pattern of cancer development can vary among families, and not everyone with a mutation will necessarily develop cancer.

Diagnosis of Lynchsündroomi is typically made through genetic testing. This testing identifies specific mutations in DNA mismatch repair genes, such as MLH1, MSH2, MSH6, and PMS2. Family history is a key indicator, with multiple relatives diagnosed with Lynch-associated cancers, particularly at a young age, suggesting the possibility of the syndrome.

Management for individuals diagnosed with Lynchsündroomi focuses on early detection and prevention. This often involves regular cancer screenings, including colonoscopies, endometrial biopsies, and other surveillance tailored to the specific cancer risks associated with their genetic mutation. Genetic counseling is also an important component, providing information and support to affected individuals and their families.

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