Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53
Summary: Disease-causing variants with penetrance that is lower than the average expected for a given gene complicate classification, even when using gene-specific guidelines. For TP53, a gene associated with some of the highest cancer risks, even reduced penetrance disease-predisposition variants r...
Saved in:
| Main Authors: | Cristina Fortuno, Marcy E. Richardson, Tina Pesaran, Kelly McGoldrick, Paul A. James, Amanda B. Spurdle |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-10-01
|
| Series: | HGG Advances |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666247725000879 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
by: Emma H. Wilcox, et al.
Published: (2025-01-01) -
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
by: Eleanor C. Broeren, et al.
Published: (2025-01-01) -
In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer
by: Lucie Vanikova, et al.
Published: (2025-08-01) -
Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools
by: Yu-An Chen, et al.
Published: (2025-06-01) -
Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines
by: Anastasiia Danishevich, et al.
Published: (2025-02-01)