Journal
FAMILIAL CANCER
Volume 6, Issue 3, Pages 311-316Publisher
SPRINGER
DOI: 10.1007/s10689-006-9115-7
Keywords
functional assay; Li-fraumeni syndrome; TP53 germline mutations; unclassified variants
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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.
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