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_name
Fam Cancerjournal_title
Familial cancerauthors
van Hest LP,Ruijs MW,Wagner A,van der Meer CA,Verhoef S,van't Veer LJ,Meijers-Heijboer Hdoi
10.1007/s10689-006-9115-7subject
Has Abstractpub_date
2007-01-01 00:00:00pages
311-6issue
3eissn
1389-9600issn
1573-7292journal_volume
6pub_type
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