High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.
Sarcomas are a key feature of Li-Fraumeni and related syndromes (LFS/LFL), associated with germline TP53 mutations. Current penetrance estimates for TP53 mutations are subject to significant ascertainment bias. The International Sarcoma Kindred Study is a clinic-based, prospective cohort of adult-on...
Saved in:
Main Authors: | Gillian Mitchell, Mandy L Ballinger, Stephen Wong, Chelsee Hewitt, Paul James, Mary-Anne Young, Arcadi Cipponi, Tiffany Pang, David L Goode, Alex Dobrovic, David M Thomas, International Sarcoma Kindred Study |
---|---|
Format: | article |
Language: | EN |
Published: |
Public Library of Science (PLoS)
2013
|
Subjects: | |
Online Access: | https://doaj.org/article/f425bdcf908c4efeb2d912f309ba26f8 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.
by: Dirce Maria Carraro, et al.
Published: (2013) -
Expression of TP53 isoforms p53β or p53γ enhances chemosensitivity in TP53(null) cell lines.
by: Elisabeth Silden, et al.
Published: (2013) -
TP53 in Myelodysplastic Syndromes
by: Yan Jiang, et al.
Published: (2021) -
Comprehensive Identification of Deleterious <i>TP53</i> Missense VUS Variants Based on Their Impact on TP53 Structural Stability
by: Benjamin Tam, et al.
Published: (2021) -
DOR/Tp53inp2 and Tp53inp1 constitute a metazoan gene family encoding dual regulators of autophagy and transcription.
by: Ana Sancho, et al.
Published: (2012)