The Li–Fraumeni syndrome
作者： Agnès Chompret
DOI: 10.1016/S0300-9084(01)01361-X
关键词: Breast cancer 、 Sarcoma 、 Genetics 、 Oncology 、 Li–Fraumeni syndrome 、 Germline mutation 、 Biology 、 Cancer 、 Internal medicine 、 Proband 、 Germline 、 Loss of heterozygosity
摘要: Abstract Li–Fraumeni syndrome (LFS) has been the most common terminology used for syndrome. It is a rare familial dominantly inherited cancer characterized by wide spectrum of neoplasms occurring in children and young adults. The canonical definition LFS includes proband diagnosed with sarcoma before 45 years age, first-degree relative this same age another first- or second-degree lineage any at age. Multiple studies have reported p53 germline mutations families various parts world. As sporadic tumors, loss heterozygosity leading to inactivation wild-type allele deletion mutation observed tumors. Cancer-risk carriers estimated be 73% males nearly 100% females, difference almost entirely explained breast cancer. identification cancer-prone given rise medical, counseling, psychological ethical problems.
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