Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer

Background: The RNASEL G1385A variant was recently found to be implicated in the development of prostate cancer. Considering the function of RNase L and the pleiotropic effects of mutations associated with cancer, we sought to investigate whether the RNASEL G1385A variant is a risk factor for breast cancer. Patients and Methods: A total of 453 breast cancer patients and 382 age- and sex-matched controls from Greece and Turkey were analyzed. Genotyping for the RNASEL G1385A variant was performed using an Amplification Refractory Mutation System (ARMS). Results: Statistical evaluation of the RNASEL G1385A genotype distribution among breast cancer patients and controls revealed no significant association between the presence of the risk genotype and the occurrence of breast cancer. Conclusion: Although an increasing number of studies report an association between the RNASEL G1385A variant and prostate cancer risk, this variant does not appear to be implicated in the development of breast cancer

Detection of LOH of the RB1 gene in bladder cancers by PCR-RFLP.

OBJECTIVES: Retinoblastoma (RB1) gene involves in retinoblastoma, osteosarcoma, bladder, prostate, lung, breast carcinomas, and soft tissue sarcomas. Loss of heterozygosity (LOH) is the most common mutation of the gene. METHODS: Xba I polymorphism in intron 17 of the gene was used to detect LOH in 20 bladder cancer patients. A cystitis and an osteosarcoma were used as control. LOH was investigated in three different kinds of samples (blood, paraffin-embedded tissue and fresh tissue) belonging to the same patients, and 20 blood samples, 20 paraffin-embedded tissue samples and 16 fresh tissue samples were obtained from 20 cancer patients. RESULTS: None of the 20 blood samples showed LOH. Eleven out of 20 paraffin-embedded bladder tissues were amplified, 3 of them homozygous and all 8 informative paraffin-embedded tissues showed LOH. Five out of 16 fresh tumor tissues obtained were amplified, in 1 the fresh tissue was normal, 1 fresh tissue showed LOH and 3 were not digested by Xba I. CONCLUSION: The results of the study have suggested that detection of LOH of the RB1 gene by PCR-RFLP can be a good adjunctive test for evaluation of the bladder cancer

Comparative genomic hybridization in ganglioneuroblastomas

PubMedID: 11801306The ganglioneuroblastoma are rare lesions with widespread neuronal differentiation that have been classified as intermediate stages between neuroblastoma and ganglioneuroma. To identify overall chromosome aberrations in ganglioneuroblastoma, we performed comparative genomic hybridization. All of the five tumor samples were found to exhibit multiple gains involving different chromosomal regions. Chromosomal gains displayed by chromosomes and chromosome loci were 2p25~pter (60%), 5p15.1~p15.3 (60%), 7 (60%), 13q22~q31 (60%), and 22 (60%), which were detected as minimal common regions in all five tumor samples. Chromosome 22 gain, which had not been reported in neuronal tumors before, and novel site 13q22~q31 may be considered to play an important role in progression and differentiation of ganglioneuroblastoma. © 2002 Elsevier Science Inc. All rights reserved.This study is supported by Research Foundation of Akdeniz University. Grant number: 99.01.0122.05

Detection of LOH of the RB1 gene in bladder cancers by PCR-RFLP

Objectives: Retinoblastoma (RB1) gene involves in retinoblastoma, osteosarcoma, bladder, prostate, lung, breast carcinomas, and soft tissue sarcomas. Loss of heterozygosity (LOH) is the most common mutation of the gene. Methods: Xba I polymorphism in intron 17 of the gene was used to detect LOH in 20 bladder cancer patients. A cystitis and an osteosarcoma were used as control. LOH was investigated in three different kinds of samples (blood, paraffin-embedded tissue and fresh tissue) belonging to the same patients, and 20 blood samples, 20 paraffin-embedded tissue samples and 16 fresh tissue samples were obtained from 20 cancer patients. Results: None of the 20 blood samples showed LOH. Eleven out of 20 paraffin-embedded bladder tissues were amplified, 3 of them homozygous and all 8 informative paraffin-embedded tissues showed LOH. Five out of 16 fresh tumor tissues obtained were amplified, in 1 the fresh tissue was normal, 1 fresh tissue showed LOH and 3 were not digested by Xba I. Conclusion: The results of the study have suggested that detection of LOH of the RB1 gene by PCR-RFLP can be a good adjunctive test for evaluation of the bladder cancer. Copyright © 2002 S. Karger AG, Basel

Fracture history in osteoporosis: Risk factors and its effect on quality of life

Background: Fractures are one of the main outcomes in osteoporosis and have an important effect on the general health status. Aims: The purpose of this study was to determine the effect of major fracture history on quality of life. We also investigated the important risk factors and their effect on bone mineral density and fracture history. Study Design: Cross-sectional study. Methods: We recruited 105 patients who were admitted to an osteoporosis outpatient clinic. Medical history, family history, calcium intake, physical activity level and biochemical tests were evaluated. Lumbar spine and femur neck bone mineral density were measured. The Qualeffo- 41 questionnaire was also used for evaluating quality of life. Results: The average age of the 105 patients included in the study was 56.04±13.73 and 89% of them were post-menopausal women. The average body mass index was 26.84±5.99, which means that the women were overweight. Also, 48.5% of the patients were diagnosed with osteoporosis and 51.5% of them were diagnosed as low bone density. A total of 34 patients had a fracture history with minor trauma and some of the patients had more than one fracture (12 ankle and foot, 10 forearm, 9 vertebral, 4 hand, 3 hip, 2 rib, 1 tibial). When the patients with and without fracture history were compared, the mean Qualeffo-41 score in patients with fracture was 43.85±2.57 and in the non-fracture group was 36.27±2.01. Conclusion: Forearm, ankle and foot fractures can be commonly seen in osteoporosis patients with fracture history. We suggest that it is important to recognise osteoporosis prior to first fracture and disease-specific quality of life assessment should be done