HOXB13, homeobox B13, 10481

N. diseases: 90; N. variants: 3
Disease: Malignant neoplasm of breast ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138213197
rs138213197
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation BEFREE We identified two predicted deleterious missense mutations, p.G84E and p.R217C, that were recurrent among breast cancer cases and further evaluated their association with breast cancer risk in a larger study. 27424772 2016
dbSNP: rs138213197
rs138213197
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation BEFREE This study does not support the hypothesis that women who carry the HOXB13 Gly84Glu mutation are at increased risk of breast cancer. 23099437 2012
dbSNP: rs138213197
rs138213197
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.720 CausalMutation CLINVAR
dbSNP: rs139475791
rs139475791
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE These results imply that none of the recurrent HOXB13 mutations in the Dutch population are associated with breast cancer risk, although it may be worthwhile to evaluate p.R217C in a larger study. 27424772 2016