|(A;A)||0||common in clinvar|
[PMID 17693647] among 61 patients with advanced breast cancers and treated by trastuzumab, all cases of cardiotoxicity occurred in the Ile-Val group and there was no cardiac toxicity in the Val-Val and Ile-Val patients, there was no link found between tumor response and survival w/ HER2 genotype
[PMID 21474413] Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: A systematic review and meta-analysis
|Disease||ERBB2 POLYMORPHISM not specified|
|CLNDBN||ERBB2 POLYMORPHISM not specified|
|CLNSRC||OMIM Allelic Variant|
[PMID 17132159] Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 17598910] Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia.
[PMID 19055823] The genetic polymorphisms of HER-2 and the risk of lung cancer in a Korean population.
[PMID 19240718] Tagging single-nucleotide polymorphisms in candidate oncogenes and susceptibility to ovarian cancer.
[PMID 19336545] Heritable variation of ERBB2 and breast cancer risk.
[PMID 19438491] The effects of obesity and HER-2 polymorphisms as risk factors for endometrial cancer in Korean women.
[PMID 19822020] Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.
[PMID 20922573] Functional polymorphisms associated with disease-free survival in resected carcinoma of the esophagus.
[PMID 21649724] Variation in human genetic polymorphisms, their association with Helicobacter pylori acquisition and gastric cancer in a multi-ethnic country.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
|summary||Associated with cardiac toxicity with trastuzumab.|
[PMID 26049584] Influence of the HER2 Ile655Val polymorphism on trastuzumab-induced cardiotoxicity in HER2-positive breast cancer patients: a meta-analysis
[PMID 27293060] Role of HER-2 Ile655Val Polymorphism as Universal Cancer Susceptibility Marker among Different Cancers.