Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Pro72Arg (p.P72R)
(
ENST00000359597.8,
ENST00000413465.6,
ENST00000604348.6,
ENST00000269305.9,
ENST00000455263.6,
ENST00000420246.6,
ENST00000445888.6,
ENST00000576024.2,
ENST00000610292.4,
ENST00000610538.4,
ENST00000619485.4,
ENST00000620739.4,
ENST00000622645.4,
ENST00000714356.1,
ENST00000714357.1,
ENST00000714359.1,
ENST00000714408.1,
ENST00000714409.1 )
TP53 p.Pro72Arg (p.P72R) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- Large meta-analysis of 5,191 breast cancer patients and 3,834 controls did not find a conclusive link between codon 72 allele and breast cancer susceptibility. Odds ratios were 0.98 (95% CI, 0.91–1.05) for heterozygotes and 0.97 (95% CI, 0.86–1.11) in homozygotes (per-allele OR, 0.98; 95% CI, 0.91–1.04). Median age of onset was also not different between genotypes (GG: 49 years, GC: 50, CC: 50).
- Variant Origin
- Common Germline
- Variant Origin
- Common Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1302
- Gene URL
- https://civic.genome.wustl.edu/links/genes/45
- Variant URL
- https://civic.genome.wustl.edu/links/variants/531
- Rating
- 4
- Evidence Type
- Predisposing
- Disease
- Breast Cancer
- Evidence Direction
- Does Not Support
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 17909070
Drugs