TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection...
TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
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Author / Creator
Ruijs, Marielle W G , Verhoef, Senno , Rookus, Matti A , Pruntel, Roelof , van der Hout, Annemarie H , Hogervorst, Frans B L , Kluijt, I , Sijmons, Rolf H , Aalfs, Cora M , Wagner, Anja , Ausems, Margreet G E M , Hoogerbrugge, Nicoline , van Asperen, Christi J , Gomez Garcia, Encarna B , Meijers-Heijboer, Hanne , ten Kate, Leo P , Menko, Fred H and van 't Veer, Laura J
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
London: BMJ Publishing Group Ltd
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Scope and Contents
Contents
BackgroundLi–Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome. Most families fulfilling the classical diagnostic criteria harbour TP53 germline mutations. However, TP53 germline mutations may also occur in less obvious phenotypes. As a result, different criteria are in use to decide which patients qualify for TP53...
Alternative Titles
Full title
TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
Authors, Artists and Contributors
Author / Creator
Verhoef, Senno
Rookus, Matti A
Pruntel, Roelof
van der Hout, Annemarie H
Hogervorst, Frans B L
Kluijt, I
Sijmons, Rolf H
Aalfs, Cora M
Wagner, Anja
Ausems, Margreet G E M
Hoogerbrugge, Nicoline
van Asperen, Christi J
Gomez Garcia, Encarna B
Meijers-Heijboer, Hanne
ten Kate, Leo P
Menko, Fred H
van 't Veer, Laura J
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_733149308
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_733149308
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg.2009.073429
