RESUMO
Genetic polymorphisms in the RAD51 gene may be associated with increased cancer risk. The aim of the present study was to evaluate associations between the risk of ovarian cancer and 135G>C (rs1801320) and 172G>T (rs1801321) polymorphisms in the RAD51 gene. We analysed the distribution of genotypes and frequency of alleles of the RAD51 polymorphisms in 210 women with ovarian cancer and 210 healthy controls. Both polymorphisms were genotyped by restriction fragment length polymorphism-polymerase chain reaction (PCR-RFLP). In the present study only 135G>C polymorphism of the RAD51 gene was associated with ovarian cancer risk. The distribution of genotypes for 135G>C in ovarian cancer patients vs. controls was: 20% vs. 30% for G/G, 22% vs. 47% for G/C, and 58% vs. 23% for C/C genotype, respectively. We found evidence of an increased ovarian cancer risk in C/C homozygotes but not in heterozygotes. The 135C allele of RAD51 increased cancer risk. In the present work we demonstrated a significant positive association between the RAD51 135G>C polymorphism and ovarian carcinoma in Poland. However, this gene requires further understanding of its interaction with other genes involved in tumour development.
Assuntos
Carcinoma/genética , Reparo do DNA/genética , DNA de Neoplasias/genética , Neoplasias Ovarianas/genética , Polimorfismo de Nucleotídeo Único , Rad51 Recombinase/genética , Regiões 5' não Traduzidas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , DNA de Neoplasias/química , Feminino , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Polônia , Reação em Cadeia da Polimerase , Análise de Sequência de DNARESUMO
Chronic obstructive pulmonary disease (COPD) is not fully recognized process regarding many risk factors genetics and environmental. Etiology of COPD is not fully understood. There is evidence of a hereditary component in COPD. Patients with hereditary alpha1-antitrypsin deficiency are at risk of developing COPD. A number of genetic association studies have been performed to find susceptibility genes of COPD. Many of genes play an important role in development of COPD. This review examines the impact of alpha1-antitrypsin, matrix metalloproteinases, tumour necrosis factor gene a, microsomal epoxide hydrolase, transforming growth factor b-1, Vitamin D-binding protein and CFTR on COPD extension.
Assuntos
Polimorfismo Genético , Doença Pulmonar Obstrutiva Crônica/genética , Deficiência de alfa 1-Antitripsina/genética , Epóxido Hidrolases/metabolismo , Expressão Gênica , Predisposição Genética para Doença , Humanos , Metaloproteinases da Matriz/metabolismo , Fatores de Risco , Fator de Crescimento Transformador beta1/genética , Fator de Crescimento Transformador beta1/metabolismo , Fator de Necrose Tumoral alfa/genética , Fator de Necrose Tumoral alfa/metabolismo , Proteína de Ligação a Vitamina D/metabolismo , alfa 1-Antitripsina/metabolismoRESUMO
OBJECTIVES: The purpose of our study was to analyse the operative procedures and complications in patients operated for the first time for ovarian cancer. MATERIALS AND METHODS: A retrospective review of patients' charts with ovarian cancer operated at the Department of Gynaecological Surgery of Polish Mother's Memorial Hospital-Research Institute in 1990-1999 was conducted. We analysed the data of women operated for the first time for this disease. In every case we tried to perform radical operation consisted of hysterectomy with bilateral adnexectomy, omentectomy, appendectomy (if needed), and additionally optimal debulking in advanced cancer. RESULTS: Between January 1990 and December 1999, 107 patients were operated for the first time for ovarian cancer. FIGO staging was as follows: I--13.1%, II--14.95%, III--59.8%, IV--12.15%. The most frequent findings on histology were serous (39.3%), endometrioid (26.2%), undifferentiated (11.2%) and clear cell cancers (10.7%). In 60.7% of cases we performed hysterectomy with bilateral adnexectomy, in 15.0% bilateral adnexectomy, in 4.7% of patients cytoreductive tumorectomy, and in 19.6% of cases only excisions for histology were taken. 69.0% of patients underwent also omentectomy and 42.6% appendectomy. In 58.9% of patients we performed radical operation; its incidence significantly decreased with the increase of FIGO staging: I--100%, II--87.5%, III--51.6%, IV--15.4% (p < 0.0005). We noted 5 cases of intraoperative complications, all in patients with the stage III, connected with intestinal or urinary bladder lesions. The most common postoperative complication was anaemia (23.4%) and fever (4.7%). Four patients died in 8-27 postoperative day due to circulatory insufficiency. CONCLUSIONS: The most common was serous and endometrioid ovarian cancer. The great majority of patients was diagnosed to late and operated in III and IV stage of the disease, but in almost 60% of cases radical operation was performed.
