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- Publisher
- Springer Journals
- Copyright
- Copyright © 2007 by Springer Science + Business Media B.V.
- Subject
- Biomedicine; Biomedicine general; Epidemiology; Human Genetics ; Cancer Research
- ISSN
- 1389-9600
- eISSN
- 1573-7292
- DOI
- 10.1007/s10689-006-9115-7
- pmid
- 17318340
- Publisher site
- See Article on Publisher Site
Abstract
Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited cancer predisposition syndrome characterized by a combination of tumors including sarcoma, breast cancer, brain tumors, adrenocortical carcinoma and leukemia. Germline mutations in the tumor suppressor gene TP53 are associated with LFS. We present a family with LFS in which initially a novel germline TP53 intron 5 splice site mutation was found. A second germline TP53 mutation, the exon 7 Asn235Ser (704A→G) mutation, was detected in this family through pre-symptomatic DNA testing. This latter mutation has been reported repeatedly in the literature as a pathogenic mutation involved in LFS. We provide evidence for pathogenicity of the novel intron 5 splice site mutation, whereas this evidence is lacking for the exon 7 Asn235Ser (704A→G) mutation. Our findings emphasize the importance of performing additional tests in case of germline sequence variants with uncertain functional effects.
Journal
Familial Cancer – Springer Journals
Published: Feb 23, 2007