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5 records shown · first 60Association of ESR1, HER1, and HER2 Polymorphisms with Breast Cancer Risk in the KP Population, A Case-Control Study.
PMID 40146396 | PMCID PMC11950110 | DOI 10.1007/s10911-025-09581-9 · Journal of mammary gland biology and neoplasia · 2025 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2234693 | “This study aimed to validate the association of ESR1 (rs2234693 and rs2046210), HER1 (rs11543848), and HER2 (rs1136201) variants with breast cancer risk in the KP population of Pakistan using a larger dataset.” | 0.90 | hgvs_regex_v1 |
| gene | ESR1 | “Association of ESR1, HER1, and HER2 Polymorphisms with Breast Cancer Risk in the KP Population, A Case-Control Study.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Association of ESR1, HER1, and HER2 Polymorphisms with Breast Cancer Risk in the KP Population, A Case-Control Study.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs2046210 | “This study aimed to validate the association of ESR1 (rs2234693 and rs2046210), HER1 (rs11543848), and HER2 (rs1136201) variants with breast cancer risk in the KP population of Pakistan using a larger dataset.” | 0.90 | hgvs_regex_v1 |
Biochemical Characterization and Molecular Determination of Estrogen Receptor-α (ESR1 PvuII-rs2234693 T>C) and MiRNA-146a (rs2910164 C>G) Polymorphic Gene Variations and Their Association with the Risk of Polycystic Ovary Syndrome.
PMID 35270805 | PMCID PMC8910123 | DOI 10.3390/ijerph19053114 · International journal of environmental research and public health · 2022 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2234693 | “Biochemical Characterization and Molecular Determination of Estrogen Receptor-α (ESR1 PvuII-rs2234693 T>C) and MiRNA-146a (rs2910164 C>G) Polymorphic Gene Variations and Their Association with the Risk of Polycystic Ovary Syndrome.” | 0.90 | hgvs_regex_v1 |
| gene | ESR1 | “Biochemical Characterization and Molecular Determination of Estrogen Receptor-α (ESR1 PvuII-rs2234693 T>C) and MiRNA-146a (rs2910164 C>G) Polymorphic Gene Variations and Their Association with the Risk of Polycystic Ovary Syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “PCOS is a risk factor for diabetes mellitus, obstructive sleep apnea, obesity and depression in patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “PCOS is a risk factor for diabetes mellitus, obstructive sleep apnea, obesity and depression in patients.” | 0.98 | phenotype_alias_lexicon_v2 |
Functionally significant polymorphisms of ESR1and PGR and risk of intrauterine growth restriction in population of Central Russia.
PMID 32777541 | DOI 10.1016/j.ejogrb.2020.07.045 · European journal of obstetrics, gynecology, and reproductive biology · 2020 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2234693 | “Participants were genotyped at 4 functionally significant polymorphisms of theESR1 (rs2234693, rs9340799) and the PGR (rs484389, rs1042838) genes.” | 0.90 | hgvs_regex_v1 |
| gene | PGR | “Functionally significant polymorphisms of ESR1and PGR and risk of intrauterine growth restriction in population of Central Russia.” | 0.98 | hgnc_dict_v1 |
| gene | TG | “RESULTS: Haplotype TG of loci rs2234693-rs9340799ESR1 (OR = 1.94, рperm = 0.006) was associated with an increased risk of IUGR.” | 0.98 | hgnc_dict_v1 |
| gene | ESR1 | “Allele T of rs2234693 decreases expression of ESR1 in thyroid gland, allele T of rs2234693 and allele G of rs9340799 increase affinity to eight transcription factors (AP-4, HEN1, E2A, LBP-1, RP58, LUN, Ets and Hand).” | 0.98 | hgnc_dict_v1 |
Assessment of Correlation between Craniofacial Proportions and Genetic Indicators.
PMID 33568587 · The journal of contemporary dental practice · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2234693 | “Real-time polymerase chain reaction was performed for assessment of genetic indicators in ESR1 (rs9340799 and rs2234693) and in ESR2 (rs4986938 and rs1256049).” | 0.90 | hgvs_regex_v1 |
| gene | ESR1 | “AIM AND OBJECTIVE: To assess correlation among craniofacial proportions and genetic indicators using estrogen receptors (ESR1 and ESR2).” | 0.98 | hgnc_dict_v1 |
| gene | ESR2 | “AIM AND OBJECTIVE: To assess correlation among craniofacial proportions and genetic indicators using estrogen receptors (ESR1 and ESR2).” | 0.98 | hgnc_dict_v1 |
| variant | rs9340799 | “Real-time polymerase chain reaction was performed for assessment of genetic indicators in ESR1 (rs9340799 and rs2234693) and in ESR2 (rs4986938 and rs1256049).” | 0.90 | hgvs_regex_v1 |
Estrogen Receptor 1 Gene (ESR1) rs2234693 Polymorphism and Breast Cancer Risk in Saudi Women.
PMID 33247680 | PMCID PMC8033134 | DOI 10.31557/APJCP.2020.21.11.3235 · Asian Pacific journal of cancer prevention : APJCP · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2234693 | “Estrogen Receptor 1 Gene (ESR1) rs2234693 Polymorphism and Breast Cancer Risk in Saudi Women.” | 0.90 | hgvs_regex_v1 |
| gene | ESR1 | “Estrogen Receptor 1 Gene (ESR1) rs2234693 Polymorphism and Breast Cancer Risk in Saudi Women.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Estrogen Receptor 1 Gene (ESR1) rs2234693 Polymorphism and Breast Cancer Risk in Saudi Women.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Estrogen Receptor 1 Gene (ESR1) rs2234693 Polymorphism and Breast Cancer Risk in Saudi Women. OBJECTIVE: The present study aimed to determine the role of ESR1 gene rs2234693 T/C polymorphism (PvuII) in the susceptibility to breast cancer and to assess the association of this polymorphism within presence or absence of estrogen, progesterone receptors, human epidermal growth factor receptor 2 (HER2) and with premenopausal and postmenopausal age in Saudi women.” | 0.95 | saudi_context_rules_v1 |