Correct spelling for the English word "Lynch Syndrome I" is [lˈɪnt͡ʃ sˈɪndɹə͡ʊm ˈa͡ɪ], [lˈɪntʃ sˈɪndɹəʊm ˈaɪ], [l_ˈɪ_n_tʃ s_ˈɪ_n_d_ɹ_əʊ_m ˈaɪ] (IPA phonetic alphabet).
Lynch Syndrome I, also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC) syndrome, is a genetic condition characterized by an increased risk of developing certain types of cancer, particularly colorectal cancer. It is an autosomal dominant disorder, meaning that an individual only needs to inherit one copy of the mutated gene from one parent in order to be affected.
Individuals with Lynch Syndrome I have a significantly higher lifetime risk of developing colorectal cancer, with estimates ranging from 40% to 80%. In addition to colorectal cancer, individuals with this syndrome also have an increased risk of developing other types of cancer, such as endometrial, ovarian, stomach, small intestine, hepatobiliary tract, urinary tract, and sebaceous gland cancers.
The condition is caused by mutations in specific mismatch repair genes, primarily MLH1, MSH2, MSH6, and PMS2. These genes play a crucial role in repairing DNA errors that occur during cell division. When these genes are mutated, DNA errors may not be corrected properly, leading to an increased risk of cancer development.
Diagnosis of Lynch Syndrome I involves a combination of genetic testing, family history assessment, and clinical findings consistent with the condition. Genetic counseling is often recommended for individuals with a family history of Lynch Syndrome I or those who have been diagnosed with colorectal or other related cancers at a young age.
Management of Lynch Syndrome I typically involves regular screening, including colonoscopies, to detect and remove pre-cancerous polyps or detect cancer at an early and treatable stage. Additionally, preventive surgeries, such as removal of the uterus or ovaries, may be recommended for individuals at a higher risk of developing certain types of cancer.