What Types of Mutations in CHEK2 are Associated with Cancer?
Several types of mutations in the CHEK2 gene are associated with an increased risk of cancer. These include:
- Missense mutations: A single nucleotide change that results in the substitution of one amino acid for another in the protein. - Frame-shift mutations: Insertions or deletions of nucleotides that alter the reading frame of the gene. - Nonsense mutations: A nucleotide change that results in a premature stop codon, leading to a truncated, non-functional protein.
One well-known mutation is the 1100delC mutation, which has been extensively studied in relation to breast cancer risk.
