ABSTRACT
BACKGROUND: The distribution of BRCA mutations varies significantly between populations. The spectrum of BRCA1 and BRCA2 mutations in breast cancers in the Romanian population is incompletely known. The aim of the present study is to investigate the presence of nine BRCA mutations in patients with breast cancer identified in a surgical clinic from Bucharest. METHODS: Unrelated women diagnosed with breast cancer from Coltea Hospital (n=114) and healthy controls (n = 150) were selected for this study. Seven mutations in BRCA1 (185delAG, 5382insC, 943ins10, E1250X, 1294del40, E1373X, R1443X) and two in BRCA2 (IVS16-2A4G and 6174delT) were tested using PCR based protocols. In addition, the presence of BRCA1 185delAG, BRCA1 5382insC, BRCA2 6174delT mutations were tested with a post amplification mutation detection system, based on the ELISA method. RESULTS: Two patients with sporadic breast cancer (2%) and one patient with family history of the disease (7.14%) have the BRCA1 5382insC mutation. No other mutation was detected in patient and control groups. The mutations were not present in the control lot. CONCLUSIONS: Our results indicate that BRCA1 5382insC is a common mutation in Romanian women with breast cancer (3 114).
Subject(s)
Biomarkers, Tumor/genetics , Breast Neoplasms/genetics , Genes, BRCA1 , Genes, BRCA2 , Mutation , Adult , Aged , Aged, 80 and over , Breast Neoplasms/epidemiology , Case-Control Studies , Enzyme-Linked Immunosorbent Assay , Female , Gene Deletion , Genetic Predisposition to Disease , Genotype , Hospitals, University , Humans , Inpatients/statistics & numerical data , Middle Aged , Mutagenesis, Insertional , Point Mutation , Polymerase Chain Reaction , Prevalence , Romania/epidemiologyABSTRACT
Colorectal cancer (CRC) is a disease preventable in up to 50% of the patients by lifestyle modifications. The preventive strategy for the decrease in the incidence and mortality of CRC is based on understanding the relations between the environmental and genetic factors. The most important identified risk factors for CRC are aging, personal and familial history of CRC or adenomas, hereditary colon cancer syndromes, dietary patterns, and inflammatory bowel disease. The purpose of this review is to update data referring to environmental and genetic documented factors and CRC risk. Using data from the Medline database, we analyzed reports on CRC risk published between 2000 and 2010. We realized a classification taking into consideration the relative risk (RR) reported for each analyzed factor (RR ranged between 1 and 6.87). The highest RR were represented by the patients with distal advanced cancer (RR = 6.7) and those with high dysplasia adenomas (RR = 6.87). In the future, evaluation and optimisation of screening options will stay at the base of new prevention strategies that will be implemented based on the influence of risk factors identified in each population.
ABSTRACT
BACKGROUND: The risk of colorectal cancer (CRC) and breast cancer (BC) is influenced by polymorphisms located in the genes encoding enzymes of the folate pathway. The aim of this study was to evaluate if A66G MTRR (rs1801394) polymorphism is involved in predisposition for colorectal and breast carcinogenesis in Romanian patients. MATERIALS AND METHODS: In the present case-control study, 300 individuals divide in four groups: sporadic CRC patients (n = 120), control CRC (n = 60), BC patients (n = 60) and control BC (n = 60), were genotyped by PCR-RFLP method. RESULTS: Frequency of genotype AA was 11.7% in CRC control and 5% respectively in BC control. For cancer groups the frequency of genotype AA was 9.2% in CRC and 0% in BC. CONCLUSIONS: Study results do not demonstrate an association between A66G MTRR polymorphism and CRC or BC in Romanian patients.
Subject(s)
Breast Neoplasms/genetics , Colorectal Neoplasms/genetics , Ferredoxin-NADP Reductase/genetics , Polymorphism, Genetic , Aged , Breast Neoplasms/enzymology , Case-Control Studies , Colorectal Neoplasms/enzymology , Female , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Risk Assessment , Risk Factors , RomaniaABSTRACT
Currently, there is no cure for the treatment of spinal muscular atrophy (SMA). Based on the available clinical and molecular findings, different therapeutic strategies were tested in vitro and in vivo and clinical trials are ongoing. The main therapeutic direction is focused on the enhancement of SMN expression by increasing the full-length (fl) SMN2 transcript levels, preventing the SMN exon 7 from skipping or from protein stabilizing. In addition, the action of neurotrophic, neuroprotective or anabolic agents is tested and stem cell and gene therapy approaches are in a promising development.
Subject(s)
Muscular Atrophy, Spinal/therapy , Anabolic Agents/therapeutic use , Exons , Genetic Therapy , Humans , Muscular Atrophy, Spinal/genetics , Neuroprotective Agents/therapeutic use , Promoter Regions, Genetic , Stem Cell Transplantation , Survival of Motor Neuron 2 Protein/geneticsABSTRACT
BACKGROUND: The insertion/deletion polymorphism of the angiotensin I-converting enzyme (ACE) gene has recently been linked to the pathogenesis of human cancers. The goal of this study was to analyze the possible association between ACE gene I/D polymorphism and colorectal cancer in Romanian patients. METHODS: Blood samples were obtained, after informed consent, from individuals with colorectal cancer (n=108, M:W = 64:44), and healthy persons (n=150, M:W = 84:66). Genomic DNA was extracted from peripheral blood leucocytes using commercial kits and the insertion (I) / deletion (D) polymorphism was assessed by PCR. Statistical analysis was done using the chi2 test. We determined the odds ratio using the genotype II as risk factor. A p value < 0.05 was considered statistically significant. RESULTS: The distribution of ACE II: ID: DD genotypes was 23.1%: 46.3%: 30.6% in patients and respectively 20%: 48.7%: 31.3% in controls. The distribution of genotype (chi2 0.37, p = 0.54) and alleles (chi2 0.19, p = 0.65) did not differ significantly between cancer patients and control. CONCLUSIONS: Study results do not demonstrate an association between ACE ID polymorphism and colorectal cancer in our patients.
