p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree.

Abstract excerpt

Changes in the tumor-suppressor gene p53 are frequently acquired during the course of malignant development of human tumors. Recently, constitutional heterozygous mutations in p53 exon 7 have been identified as the primary cause of cancer predisposition in cases of the familial Li-Fraumeni cancer syndrome. These findings underline the need for extensive mutation screening in families with high cancer incidence....

Topics

• Adolescent
• Base Sequence
• Exons
• Female
• Genes, p53
• Humans
• Li-Fraumeni Syndrome
• Male
• Molecular Sequence Data
• Mosaicism
• Mutation
• Polymorphism, Restriction Fragment Length