Annotation of rs396991
Genotype CC is associated with increased response to trastuzumab in people with Breast Neoplasms as compared to genotypes AA + AC.
The response rate for 158 V/V and patients with either 158 V/F or 158 F/F genotype are 82%, 42% and 35%, respectively.
From Publication
Immunoglobulin G fragment C receptor polymorphisms and clinical efficacy of trastuzumab-based therapy in patients with HER-2/neu-positive metastatic breast cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2008. Musolino Antonino et al.
Gene
Variant
Phenotype Category
Association Significance
PharmGKB ID
Score More info on scoring
Evidence for Clinical Annotations
This annotation has been used as evidence for the following clinical annotations.
Study Parameters
Study type
Study size
Association p-value
Population description
women
Study Cohort: Fifty-four consecutive patients with HER-2/neu-amplified breast cancer receiving trastuzumab plus taxane for metastatic disease
Note: Alleles in PharmGKB are mapped to the positive chromosomal strand. Therefore, variants in genes on the "minus" strand (eg. VKORC1) are complemented in PharmGKB annotations.
History
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