Somatic TP53 variants frequently confound germ-line testing results
Somatic TP53 variants frequently confound germ-line testing results
About this item
Full title
Author / Creator
Weitzel, Jeffrey N , Chao, Elizabeth C , Nehoray, Bita , Van Tongeren, Lily R , LaDuca, Holly , Blazer, Kathleen R , Slavin, Thomas , FACMG, D A B M D , Pesaran, Tina , Rybak, Christina , Solomon, Ilana , Niell-Swiller, Mariana , Dolinsky, Jill S , Castillo, Danielle , Elliott, Aaron , Gau, Chia-Ling , Speare, Virginia and Jasperson, Kory
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Blood/saliva DNA is thought to represent the germ line in genetic cancer-risk assessment. Cases with pathogenic
TP53
variants detected by multigene panel testing are often discordant with Li-Fraumeni syndrome, raising concern about misinterpretation of acquired aberrant clonal expansions (ACEs) with
TP53
variants as germ-line...
Alternative Titles
Full title
Somatic TP53 variants frequently confound germ-line testing results
Authors, Artists and Contributors
Author / Creator
Chao, Elizabeth C
Nehoray, Bita
Van Tongeren, Lily R
LaDuca, Holly
Blazer, Kathleen R
Slavin, Thomas
FACMG, D A B M D
Pesaran, Tina
Rybak, Christina
Solomon, Ilana
Niell-Swiller, Mariana
Dolinsky, Jill S
Castillo, Danielle
Elliott, Aaron
Gau, Chia-Ling
Speare, Virginia
Jasperson, Kory
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1970640345
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1970640345
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2017.196
