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1.
Dis Markers ; 2015: 690878, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26089588

RESUMO

In first part of this study association between OGG1 polymorphisms and breast cancer susceptibility was explored by meta-analysis. Second part of the study involved 925 subjects, used for mutational analysis of OGG1 gene using PCR-SSCP and sequencing. Fifteen mutations were observed, which included five intronic mutations, four splice site mutations, two 3'UTR mutations, three missense mutations, and a nonsense mutation. Significantly (p < 0.001) increased (~29 fold) breast cancer risk was associated with a splice site variant g.9800972T>G and 3'UTR variant g.9798848G>A. Among intronic mutations, highest (~15 fold) increase in breast cancer risk was associated with g.9793680G>A (p < 0.009). Similarly ~14-fold increased risk was associated with Val159Gly (p < 0.01), ~17-fold with Gly221Arg (p < 0.005), and ~18-fold with Ser326Cys (p < 0.004) in breast cancer patients compared with controls, whereas analysis of nonsense mutation showed that ~13-fold (p < 0.01) increased breast cancer risk was associated with Trp375STOP in patients compared to controls. In conclusion, a significant association was observed between OGG1 germ line mutations and breast cancer risk. These findings provide evidence that OGG1 may prove to be a good candidate of better diagnosis, treatment, and prevention of breast cancer.


Assuntos
Neoplasias da Mama/genética , DNA Glicosilases/genética , Mutação em Linhagem Germinativa , Adulto , Análise Mutacional de DNA/métodos , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , Paquistão
2.
J Pak Med Assoc ; 57(5): 242-5, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17571480

RESUMO

OBJECTIVE: To assess the risk factors for breast cancer in women attending Nuclear Medicine, Oncology and Radiotherapy Institute (NORI) hospital, Islamabad. METHOD: A case control study was conducted at NORI from January to July 2005. A total 300 females, including 150 cases and their age matched healthy 150 controls were included. Cases had newly diagnosed breast cancer based on histopathological findings. Marital status, family history of breast cancer (first degree relatives), breast feeding history (12 months at least), smoking, parity, use of oral contraceptives (regular uptake for at least one year), and menopausal status were evaluated as risk factors for breast cancer. Demographical data and risk factor related information were collected using a short structured questionnaire. Logistic regression analysis was performed to note predictive effect of each factor on risk for breast cancer. P < 0.05 was considered statistically significant. RESULTS: No history of breast-feeding (p = < 0.001), less parity (p = 0.001), smoking (p = 0.001), postmenopausal status (p = 0.002), family history of breast cancer (p = 0.006), unmarried status (p = 0.008), and use of contraceptive pill (p = 0.03) were associated with breast cancer. CONCLUSION: Lack of breast-feeding, less parity, and smoking are most significantly associated with breast cancer in patients attending NORI.


Assuntos
Neoplasias da Mama/epidemiologia , Adulto , Aleitamento Materno , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/etiologia , Estudos de Casos e Controles , Feminino , Humanos , Paquistão/epidemiologia , Paridade , Gravidez , Radioterapia (Especialidade) , Fatores de Risco , Fumar , Inquéritos e Questionários
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