Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients

Fasching, Peter A.; Loehberg, Christian R.; Strissel, Pamela L.; Lux, Michael P.; Bani, M. R.; Schrauder, Michael G.; Geiler, Sonja; Ringleff, Kerstin; Oeser, Sonja; Weihbrecht, Sebastian; Schulz-Wendtland, R.; Hartmann, Arndt; Beckmann, Matthias W.; Strick, Reiner

doi:10.1007/s10549-007-9822-2

Cited by 76 publications

(72 citation statements)

References 41 publications

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“…We found there was the statistically significant correlation between the aromatase enzyme activity and the existence of the allele, that's mean the decrease of aromatase enzyme activity demonstrates lead to increased presence of an allele or that allele is satisfactory allele and the individual has acromegaly disease, also we can distinguish between of patients and healthy samples especially when the appearance of TC allele by measuring the activity of the enzyme, therefore, can diagnosis the disease. In this comprehension in human biology, the role of aromatase has been promoted through a few individual situation statements of the patients with complete aromatase deficiency [13]. The previous studies like Lin et al explain that aromatase mutations can make in humans variable or "nonclassic" phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Polymorphism of Cytochrome P450, Superfamily19, Polypeptide 1 Gene and Related to Aromatase Enzyme Activity in Acromegaly Iraqi Patients

Dhefer

Abbas

Ahmed

2017

Asian J Pharm Clin Res

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Objective: The objective of the present work was to investigate the association between aromatase enzyme activity and polymorphisms, rs2236722, in exon 2 of cytochrome P450 (CYP), superfamily19, polypeptide 1 (CYP19A1gene) in patients with active acromegaly.Methods: A total of 120 males and females (age 20-60 years) were enrolled in this study, 60 patients with active acromegaly who have attended the National Diabetes Centre and and Specialist Center for endocrinology and diabetes, Baghdad, from December 2015 to June 2016 and 60 healthy individuals with matches as a control group. From the whole blood, genomic DNA was extracted to perform genotyping analysis and single-nucleotide polymorphism, rs2236722, in the CYP19A1 gene using multiplex polymerase chain reaction technique, and serum aromatase levels were determined using a solid-phase enzyme-linked immunosorbent assay based on sandwich method. Results:The results show that the aromatase activity levels of patients were a highly significant decrease when contrasted with healthy control groups in both sexes (p≤0.01), and there were summarized positive results of an allele in single-nucleotide polymorphism, rs2236722, were highly significant in TT allele when contrasted with healthy control groups. While revealed that there was non-significant difference in TC allele when contrasted with healthy control groups (p>0.01).Conclusion: we conclude that there was associated between CYP19A1 gene polymorphism (rs2236722) with aromatase activity and related to acromegaly patients.

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Section: Discussionmentioning

confidence: 99%

Polymorphism of Cytochrome P450, Superfamily19, Polypeptide 1 Gene and Related to Aromatase Enzyme Activity in Acromegaly Iraqi Patients

Dhefer

Abbas

Ahmed

2017

Asian J Pharm Clin Res

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“…Aromatase is involved in the production of estrogens, and altered expression of it may be associated with prognosis. The single-nucleotide polymorphism rs4646, of CYP19A1, has been reported to be associated with HER2 status of the tumour [18] and circulating steroid hormones [3], making it biologically possible that polymorphisms in CYP19A1 may be associated with response to aromatase inhibitors. To examine this hypothesis Garcia-Casado et al [19] analysed polymorphisms in CYP19A1 in a series of postmenopausal woman treated with neoadjuvant letrozole and described their association with response to treatment and with progression free survival.…”

Section: Discussionmentioning

confidence: 99%

Genetic variation in the androgen estrogen conversion pathway in relation to breast cancer prognosticators

Darabi

Czene

Wedrén

et al. 2010

Breast Cancer Res Treat

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Purpose:Genetic variation in the androgen-to-estrogen conversion pathway has been shown to be associated with risk of breast cancer, and in particular with Estrogen Receptor (ER) positive tumours. We aimed at studying how the genetic alterations, which have been identified for risk, are associated with breast cancer prognosticators, with a prior hypothesis that, in general, hormone related breast cancers have a better prognosis than non-hormone related breast cancers. Methods:Association between tagging SNPs in genes involved in estrogen metabolism and patient's lymph node status, tumour size and histological grade, were estimated in a sample of 1569 Swedish breast cancer patients. Results:Polymorphisms in CYP19A1, which have previously been linked to breast cancer risk, are shown to be associated with breast cancer prognosticators. The strongest association was observed for rs4646, with histological grade. The common allele of rs4646, which has been associated with increased breast cancer risk, was associated with low histological grade and small tumour size (p=0.001 and 0.015; 1-sided, respectively). We also found evidence that SNP rs7167936 is associated with histological grade and tumour size (p=0.010 and 0.005; 1-sided, respectively). We show that rs4646 and rs7167936 are associated with histological grade even amongst only ER-positive tumours (p=0.008 and 0.011; 1-sided, respectively). Conclusions:Our results provide new evidence that CYP19A1 is involved in both breast cancer risk and prognosis.3

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“…The association between common germline genetic variation and breast cancer-specific survival has been examined in many candidate gene studies (8)(9)(10)(11)(12)(13)(14)(15)(16). These studies have identified numerous single nucleotide polymorphisms (SNPs) possibly associated with outcome, but none have been conclusively replicated in further studies.…”

Section: Resultsmentioning

confidence: 99%

Identification of Novel Genetic Markers of Breast Cancer Survival

Zhao¹,

Wu²

2015

Breast Diseases: A Year Book Quarterly

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Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients

Cited by 76 publications

References 41 publications

Polymorphism of Cytochrome P450, Superfamily19, Polypeptide 1 Gene and Related to Aromatase Enzyme Activity in Acromegaly Iraqi Patients

Polymorphism of Cytochrome P450, Superfamily19, Polypeptide 1 Gene and Related to Aromatase Enzyme Activity in Acromegaly Iraqi Patients

Genetic variation in the androgen estrogen conversion pathway in relation to breast cancer prognosticators

Identification of Novel Genetic Markers of Breast Cancer Survival

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