Hereditary nonpolyposis colorectal neoplasms (HNPCC) is a genetic condition characterized by an increased risk of developing colorectal (colon) and other types of cancer. It is an inherited disorder caused by mutations in specific genes, most commonly the MLH1, MSH2, MSH6, PMS2, and EPCAM genes.
Individuals with HNPCC have a higher chance of developing colorectal cancer at a younger age, typically before the age of 50. Besides colorectal cancer, they also have an increased risk of other cancers such as endometrial, ovarian, stomach, urinary tract, small intestine, and liver cancer.
The main features and symptoms of HNPCC include a family history of colorectal or other related cancers, the early onset of colorectal cancer, multiple primary cancer diagnoses in an affected individual, and tumors that exhibit specific histological characteristics. It is important to note that individuals with HNPCC may not have any polyps, unlike other forms of hereditary colon cancer, which is a common feature.
Diagnosing HNPCC involves analyzing the patient's personal and family history of cancer, specifically for the presence of specific types of cancers and their age of onset. Genetic testing is commonly used to identify mutations in the associated genes.
Management of HNPCC involves regular screenings to detect cancer at an early stage, including colonoscopies, endometrial biopsies, and other appropriate tests. Preventive measures, such as surgery to remove at-risk organs, may be recommended in some cases. Additionally, genetic counseling and testing for family members are important for early detection and appropriate management of the condition.
