The TP53 16-bp Duplication Polymorphism Is Enriched in Endometriosis Patients

Gallegos‐Arreola, Martha Patricia; Valencia-Rodríguez, L.E.; Puebla-Pérez, Ana Marı́a; Figuera, Luis E.; Zúñiga‐González, Guillermo Moisés

doi:10.1159/000330702

Cited by 14 publications

(4 citation statements)

References 67 publications

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“… * Hardy-Weinberg equilibrium in the controls (X 2 = 0.015; p = 0.90) ** Marker informativity 0.87 was assessed within a range of 0–1: markers with a score greater than 0.7 were considered to be highly informative, whereas markers with a value of 0.44 were considered to be moderately informative [ 6 ]. …”

Section: Resultsmentioning

confidence: 99%

“…The state of Jalisco has one of the highest mortality rates for BC [ 5 ]. Breast cancer is considered to be a multifactorial disease, and BC might result from a combination of abnormal protein interactions and environmental factors [ 6 ]. Previous research has implicated a variety of risk factors for BC, including age, early menarche, menopause, oral contraceptive use, cigarette smoking, alcohol consumption, a family history of BC, breast fibrosis, nulliparity, breastfeeding, ethnicity, nutrition and genetics [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

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The association between the 844ins68 polymorphism in the CBS gene and breast cancer

Gallegos‐Arreola¹,

Figuera²,

Ramos-Silva³

et al. 2014

aoms

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IntroductionThe cystathionine beta synthase (CBS) gene plays an important role in homocysteine metabolism because it catalyzes the first step of the transsulfuration pathway, during which homocysteine is converted to cystathionine. Polymorphisms of CBS have been associated with cancer.Material and methodsWe examined the role of the 844ins68 polymorphism by comparing the genotypes of 371 healthy Mexican women with the genotypes of 323 Mexican women with breast cancer (BC).ResultsThe observed genotype frequencies for controls and BC patients were 1% and 2% for Ins/Ins, 13% and 26% for W/Ins, and 86% and 72% for W/W, respectively. We found that the odds ratio (OR) was 2.2, with a 95% confidence interval (95% CI) of 1.5–3.3, p = 0.0001. The association was also evident when comparing the distribution of the W/Ins-Ins/Ins genotypes in patients in the following categories: 1) menopause and high γ-glutamyltransferase (GGT) levels (OR of 2.17, 95% CI: 1.17–4.26, p = 0.02), 2) chemotherapy response and high lactate dehydrogenase (LDH) levels (OR 2.2, 95% CI: 1.08–4.4, p = 0.027), 3) chemotherapy response and high GGT levels (OR 2.46, 95% CI: 1.2–4.8, p = 0.007), and 4) body mass index (BMI) and III–IV tumor stage (OR 3.2, 95% CI: 1.2–8.3, p = 0.013).ConclusionsWe conclude that the genotypes W/Ins-Ins/Ins of the 844ins68 polymorphism in the CBS gene contribute significantly to BC susceptibility in the analyzed sample from the Mexican population.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The association between the 844ins68 polymorphism in the CBS gene and breast cancer

Gallegos‐Arreola¹,

Figuera²,

Ramos-Silva³

et al. 2014

aoms

View full text Add to dashboard Cite

show abstract

“…*Hardy-Weinberg equilibrium in the controls (X 2 = 0.015; P = 0.90); **marker informativity was assessed within a range of 0-1: markers with a score greater than 0.7 were considered to be highly informative, whereas markers with a value of 0.44 were considered to be moderately informative (Gallegos et al, 2012 Table 5. Regression binary logistic of the patient group.…”

Section: %Cimentioning

confidence: 99%

Association of the tumor necrosis factor-alpha -308G>A polymorphism with breast cancer in Mexican women

Gómez-Flores-Ramos¹,

Dios²,

Puebla-Pérez³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The tumor necrosis factor-alpha (TNF-α) gene plays an important role in cell proliferation, differentiation, apoptosis, lipid metabolism, coagulation, insulin resistance, and endothelial function. Polymorphisms of TNF-α have been associated with cancer. We examined the role of the -308G>A polymorphism in this gene by comparing the genotypes of 294 healthy Mexican women with those of 465 Mexican women with breast cancer. The observed genotype frequencies for controls and breast cancer patients were 1 and 14% for AA, 13 and 21% for GA, and 86 and 65% for GG, respectively. We found that the odds ratio (OR) for AA genotype was 2.4, with a 95% confidence interval (95%CI) of 5.9-101.1 (P = 0.0001). The association was also evident when comparing the distribution of the AA-GA genotype in patients in the following categories: 1) premenopause and obesity I (OR = 3.5, 95%CI = 1.3-9.3, P = 0.008), 2) Her-2 neu and tumor stage I-II (OR = 2.5, 95%CI = 1.31-4.8, P = 0.004), 3) premenopause and tumor stage III-IV (OR = 1.7, 95%CI = 1.0-2.9, P = 0.034), 4) chemotherapy non-response and abnormal hematocrit (OR = 2.4, 95%CI = 1.2-4.8, P = 0.015), 5) body mass index and Her-2 neu and III-IV tumor stage (OR = 2.8, 95%CI = 1.2-6.6, P = 0.016), and 6) nodule metastasis and K-I67 (OR = 4.0, 95%CI = 1.01-15.7, P = 0.038). We concluded that the genotypes AA-GA of the -308G>A polymorphism in TNF-α significantly contribute to breast cancer susceptibility in the analyzed sample from the Mexican population.

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“…Mög-licherweise ist die Inaktivierung des PTEN-Tumorsuppressorgens einer der ersten molekularen Schritte auf dem Weg der malignen Veränderung [32,40]. Mutationen des p53-Tumorsuppressorgens, die in mehr als der Hälfte aller malignen Tumoren gefunden werden, kommen ebenfalls bereits in gutartigem Endometriosegewebe vor [13].…”

Section: Molekulare Befundeunclassified

Malignome auf dem Boden einer Endometriose

Ulrich

Drienko

Reichert

et al. 2016

Gynäkologische Endokrinologie

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Zwischen 5 und 15 % aller Frauen in der Prämenopause sind von Endometriose betroffen [33] -und für Frauen mit Sterilität stellt diese Erkrankung ein besonderes Problem dar [12]. Operative Entfernung, endokrine Behandlung und bei unerfülltem Kinderwunsch die assistierte Reproduktion sind die Säulen der Therapie [41]. Pathologisch-histologisch ist die Endometriose prinzipiell eine benigne Erkrankung. Malignes Wachstum und Endometriose weisen jedoch einige gemeinsame Charakteristika auf, und auf dem Boden einer Endometriose können sich Malignome entwickeln [37]. Mit diesem Phänomen beschäftigen sich die Autoren in der folgenden Übersicht.

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The TP53 16-bp Duplication Polymorphism Is Enriched in Endometriosis Patients

Cited by 14 publications

References 67 publications

The association between the 844ins68 polymorphism in the CBS gene and breast cancer

The association between the 844ins68 polymorphism in the CBS gene and breast cancer

Association of the tumor necrosis factor-alpha -308G>A polymorphism with breast cancer in Mexican women

Malignome auf dem Boden einer Endometriose

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