PubMed:14981916 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":174,"end":187},"obj":"HP_0003002"},{"id":"T2","span":{"begin":174,"end":187},"obj":"HP_0100013"},{"id":"T3","span":{"begin":181,"end":187},"obj":"HP_0002664"},{"id":"T4","span":{"begin":275,"end":281},"obj":"HP_0002664"}],"text":"Full sequencing analysis of estrogen receptor-alpha gene polymorphism and its association with breast cancer risk.\nBACKGROUND: The estrogen receptor plays a critical role in breast cancer development and progression. So the genetic polymorphism of ER-alpha gene could affect cancer risk and phenotype.\nMATERIALS AND METHODS: We fully sequenced the ER-alpha gene to investigate its single nucleotide polymorphisms (SNPs) in 100 breast cancer patients and 100 controls.\nRESULTS: Six novel polymorphism in the control and 11 in cancer patients were found. The G/G genotype at C975 G and A/A genotype at G1782 A had a protective effect against breast cancer when compared to other genotypes (OR = 0.3 and 0.3, respectively). 975G allele was associated inversely with the p53 expression and positively with the bcl-2 expression in cancer with borderline significance. Combining this result with our previous study, these associations became more significant (p = 0.005 and 0.019, respectively).\nCONCLUSION: Polymorphisms in ER-alpha gene can affect the breast cancer susceptibility and may be related to other protein expression, such as p53 and bcl-2."}

{"project":"AnEM_abstracts","denotations":[{"id":"T1","span":{"begin":95,"end":108},"obj":"Pathological_formation"},{"id":"T2","span":{"begin":174,"end":187},"obj":"Pathological_formation"},{"id":"T3","span":{"begin":275,"end":281},"obj":"Pathological_formation"},{"id":"T4","span":{"begin":427,"end":440},"obj":"Pathological_formation"},{"id":"T5","span":{"begin":525,"end":531},"obj":"Pathological_formation"},{"id":"T6","span":{"begin":640,"end":653},"obj":"Pathological_formation"},{"id":"T7","span":{"begin":826,"end":832},"obj":"Pathological_formation"},{"id":"T8","span":{"begin":1048,"end":1061},"obj":"Pathological_formation"}],"text":"Full sequencing analysis of estrogen receptor-alpha gene polymorphism and its association with breast cancer risk.\nBACKGROUND: The estrogen receptor plays a critical role in breast cancer development and progression. So the genetic polymorphism of ER-alpha gene could affect cancer risk and phenotype.\nMATERIALS AND METHODS: We fully sequenced the ER-alpha gene to investigate its single nucleotide polymorphisms (SNPs) in 100 breast cancer patients and 100 controls.\nRESULTS: Six novel polymorphism in the control and 11 in cancer patients were found. The G/G genotype at C975 G and A/A genotype at G1782 A had a protective effect against breast cancer when compared to other genotypes (OR = 0.3 and 0.3, respectively). 975G allele was associated inversely with the p53 expression and positively with the bcl-2 expression in cancer with borderline significance. Combining this result with our previous study, these associations became more significant (p = 0.005 and 0.019, respectively).\nCONCLUSION: Polymorphisms in ER-alpha gene can affect the breast cancer susceptibility and may be related to other protein expression, such as p53 and bcl-2."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"14981916-0#28#45#gene2099","span":{"begin":28,"end":45},"obj":"gene2099"},{"id":"14981916-0#95#108#diseaseC0006142","span":{"begin":95,"end":108},"obj":"diseaseC0006142"},{"id":"14981916-8#131#134#gene7157","span":{"begin":1133,"end":1136},"obj":"gene7157"},{"id":"14981916-8#46#59#diseaseC0006142","span":{"begin":1048,"end":1061},"obj":"diseaseC0006142"},{"id":"14981916-8#46#59#diseaseC0678222","span":{"begin":1048,"end":1061},"obj":"diseaseC0678222"}],"relations":[{"id":"28#45#gene209995#108#diseaseC0006142","pred":"associated_with","subj":"14981916-0#28#45#gene2099","obj":"14981916-0#95#108#diseaseC0006142"},{"id":"131#134#gene715746#59#diseaseC0006142","pred":"associated_with","subj":"14981916-8#131#134#gene7157","obj":"14981916-8#46#59#diseaseC0006142"},{"id":"131#134#gene715746#59#diseaseC0678222","pred":"associated_with","subj":"14981916-8#131#134#gene7157","obj":"14981916-8#46#59#diseaseC0678222"}],"text":"Full sequencing analysis of estrogen receptor-alpha gene polymorphism and its association with breast cancer risk.\nBACKGROUND: The estrogen receptor plays a critical role in breast cancer development and progression. So the genetic polymorphism of ER-alpha gene could affect cancer risk and phenotype.\nMATERIALS AND METHODS: We fully sequenced the ER-alpha gene to investigate its single nucleotide polymorphisms (SNPs) in 100 breast cancer patients and 100 controls.\nRESULTS: Six novel polymorphism in the control and 11 in cancer patients were found. The G/G genotype at C975 G and A/A genotype at G1782 A had a protective effect against breast cancer when compared to other genotypes (OR = 0.3 and 0.3, respectively). 975G allele was associated inversely with the p53 expression and positively with the bcl-2 expression in cancer with borderline significance. Combining this result with our previous study, these associations became more significant (p = 0.005 and 0.019, respectively).\nCONCLUSION: Polymorphisms in ER-alpha gene can affect the breast cancer susceptibility and may be related to other protein expression, such as p53 and bcl-2."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":28,"end":45},"obj":"gene:2099"},{"id":"T1","span":{"begin":95,"end":108},"obj":"disease:C0678222"},{"id":"T2","span":{"begin":28,"end":45},"obj":"gene:2099"},{"id":"T3","span":{"begin":95,"end":108},"obj":"disease:C0006142"},{"id":"T4","span":{"begin":131,"end":148},"obj":"gene:2099"},{"id":"T5","span":{"begin":174,"end":187},"obj":"disease:C0678222"},{"id":"T6","span":{"begin":131,"end":148},"obj":"gene:2099"},{"id":"T7","span":{"begin":174,"end":187},"obj":"disease:C0006142"},{"id":"T8","span":{"begin":248,"end":256},"obj":"gene:2099"},{"id":"T9","span":{"begin":275,"end":281},"obj":"disease:C1306459"},{"id":"T10","span":{"begin":248,"end":256},"obj":"gene:2099"},{"id":"T11","span":{"begin":275,"end":281},"obj":"disease:C0006826"},{"id":"T12","span":{"begin":1141,"end":1146},"obj":"gene:596"},{"id":"T13","span":{"begin":1048,"end":1061},"obj":"disease:C0678222"},{"id":"T14","span":{"begin":1141,"end":1146},"obj":"gene:596"},{"id":"T15","span":{"begin":1048,"end":1061},"obj":"disease:C0006142"},{"id":"T16","span":{"begin":1133,"end":1136},"obj":"gene:7157"},{"id":"T17","span":{"begin":1048,"end":1061},"obj":"disease:C0678222"},{"id":"T18","span":{"begin":1133,"end":1136},"obj":"gene:7157"},{"id":"T19","span":{"begin":1048,"end":1061},"obj":"disease:C0006142"},{"id":"T20","span":{"begin":1019,"end":1027},"obj":"gene:2099"},{"id":"T21","span":{"begin":1048,"end":1061},"obj":"disease:C0678222"},{"id":"T22","span":{"begin":1019,"end":1027},"obj":"gene:2099"},{"id":"T23","span":{"begin":1048,"end":1061},"obj":"disease:C0006142"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"},{"id":"R8","pred":"associated_with","subj":"T14","obj":"T15"},{"id":"R9","pred":"associated_with","subj":"T16","obj":"T17"},{"id":"R10","pred":"associated_with","subj":"T18","obj":"T19"},{"id":"R11","pred":"associated_with","subj":"T20","obj":"T21"},{"id":"R12","pred":"associated_with","subj":"T22","obj":"T23"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Full sequencing analysis of estrogen receptor-alpha gene polymorphism and its association with breast cancer risk.\nBACKGROUND: The estrogen receptor plays a critical role in breast cancer development and progression. So the genetic polymorphism of ER-alpha gene could affect cancer risk and phenotype.\nMATERIALS AND METHODS: We fully sequenced the ER-alpha gene to investigate its single nucleotide polymorphisms (SNPs) in 100 breast cancer patients and 100 controls.\nRESULTS: Six novel polymorphism in the control and 11 in cancer patients were found. The G/G genotype at C975 G and A/A genotype at G1782 A had a protective effect against breast cancer when compared to other genotypes (OR = 0.3 and 0.3, respectively). 975G allele was associated inversely with the p53 expression and positively with the bcl-2 expression in cancer with borderline significance. Combining this result with our previous study, these associations became more significant (p = 0.005 and 0.019, respectively).\nCONCLUSION: Polymorphisms in ER-alpha gene can affect the breast cancer susceptibility and may be related to other protein expression, such as p53 and bcl-2."}