The incidence of germline p53 mutations in 53 Li-Fraumeni-like families and in individuals with multiple primary tumors
- Univ. of Utah, Salt Lake City, UT (United States)
- and others
The classical Li-Fraumeni Syndrome (LFS) is the association of sarcoma (at <45 years) with either sarcoma, breast cancer, brain tumor, leukemia or adrenal carcinoma in a first degree relative and cancer (at <45) or sarcoma (any age) in a close relative. Prostate cancer, testicular cancer and melanoma are now considered also to be part of LFS, and members of such families often have multiple tumors. We have defined Li-Fraumeni-like families (LFL) as having at least two relatives affected with the tumors in the extended definition of LFS, but not fulfilling the classical definition. We analyzed exons in 1 through 11 of the p53 gene from blood DNA from affected individuals in 53 LFL families by single strand conformational polymorphism. Four of the 53 had abnormalities, in exons 5, 7 and 8, confirmed by sequencing. We also studied 11 individuals with two primary tumors, both of which are part of LFS and 22 individuals with 3 primary tumors at any site (excluding multiple colonic tumors). Two of the 33 (6%) individuals has germline mutations; both were members of LFL families and both had sarcoma as one of their primaries. Germline p53 mutations occur in 8% of LFL families and in patients with multiple primaries; p53 mutations are restricted to those in LFL/LFS families.
- OSTI ID:
- 133492
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0220
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
Similar Records
Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma
P53 gene mutations in breast cancers in Midwestern U.S. women: Null as well as missense-type mutations are associated with poor prognosis