Papers & Research Literature

Li-Fraumeni syndrome (LFS) is a genetic disorder linked to mutations in the p53 tumor suppressor gene, leading to a wide range of cancers. While p53 mutations help explain some cancer risks, they don't fully account for the complex patterns seen in LFS. Recent research has found other genetic factors, like polymorphisms and telomere changes, that

Researchers analyzed families with a pattern of sarcomas, breast cancer, and other cancers occurring in young patients. They found that cancer developed in an autosomal dominant pattern, with 79% of affected individuals diagnosed before age 45. These families also had higher rates of brain tumors, leukemia, and adrenocortical carcinoma. The variety of cancers suggests unique

Researchers tested cells from people with Li-Fraumeni Syndrome (LFS), a genetic condition that increases cancer risk, to see how they respond to DNA-damaging agents like X-rays. They found no significant differences between the cells of affected individuals and those of unaffected relatives or controls, suggesting this method might not be useful for identifying at-risk