Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis
About this item
Full title
Author / Creator
Light, Nicholas , Layeghifard, Mehdi , Attery, Ayush , Subasri, Vallijah , Zatzman, Matthew , Anderson, Nathaniel D. , Hatkar, Rupal , Blay, Sasha , Chen, David , Novokmet, Ana , Fuligni, Fabio , Tran, James , de Borja, Richard , Agarwal, Himanshi , Waldman, Larissa , Abegglen, Lisa M. , Albertson, Daniel , Finlay, Jonathan L. , Hansford, Jordan R. , Behjati, Sam , Villani, Anita , Gerstung, Moritz , Alexandrov, Ludmil B. , Somers, Gino R. , Schiffman, Joshua D. , Rotter, Varda , Malkin, David and Shlien, Adam
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome associated with germline
TP53
pathogenic variants. Here, we perform whole-genome sequence (WGS) analysis of tumors from 22 patients with
TP53
germline pathogenic variants. We observe somatic mutations affecting Wnt, PI3K/AKT signaling, epigenetic modifiers and hom...
Alternative Titles
Full title
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis
Authors, Artists and Contributors
Author / Creator
Layeghifard, Mehdi
Attery, Ayush
Subasri, Vallijah
Zatzman, Matthew
Anderson, Nathaniel D.
Hatkar, Rupal
Blay, Sasha
Chen, David
Novokmet, Ana
Fuligni, Fabio
Tran, James
de Borja, Richard
Agarwal, Himanshi
Waldman, Larissa
Abegglen, Lisa M.
Albertson, Daniel
Finlay, Jonathan L.
Hansford, Jordan R.
Behjati, Sam
Villani, Anita
Gerstung, Moritz
Alexandrov, Ludmil B.
Somers, Gino R.
Schiffman, Joshua D.
Rotter, Varda
Malkin, David
Shlien, Adam
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6313943fa94246f49c0f01dd1873ed40
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6313943fa94246f49c0f01dd1873ed40
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-022-35727-y
