• allele
  • A small study (113 cases) of Hispanics with non-small cell lung cancer found an odds ratio of 1.52 per rs25487 (A) allele (CI: 1.01-2.28). (snpedia.com)
  • rs4646 (A) allele carriers with breast cancer being treated with letrozole are reported to do worse than rs4646 (C;C) patients, based on a study of (only) 95 women. (snpedia.com)
  • Based on a meta-analysis of (only) two studies, one involving treatement with letrozole and the other anastrozole , rs4646 (A) allele carriers with metastatic breast cancer showed a greater time to progression (TTP) compared to rs4646 (C;C) patients, indicating overall a possible benefit to being an (A) allele carrier. (snpedia.com)
  • This is simply the lesser of the two allele frequencies for single-nucleotide polymorphisms. (wikipedia.org)
  • Variations
  • Each of these variations can be of no consequence (they are benign), or perhaps they have been statistically shown to slightly increase risk for a disease like breast cancer, or they can lead some or most of the time to the disease if the person lives long enough (these are causal mutations). (snpedia.com)
  • Therefore, the most effective manner to assess familial breast cancer risk is not via SNP testing, but rather through identifying (if possible) the specific causative mutations within one's family and then testing relatives for those variations. (snpedia.com)
  • For participants in the risk-based screening arm, each woman will receive a personal risk assessment that includes her family and medical history, breast density measurement and tests for genes (mutations and variations) linked to the development of breast cancer. (clinicaltrials.gov)
  • Association between arterial stiffness and variations in oestrogen-related genes. (snpedia.com)
  • 1%). For example, at a specific base position in the human genome, the C nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is an SNP at this specific position, and the two possible nucleotide variations - C or A - are said to be alleles for this position. (wikipedia.org)
  • mutation
  • CD86 molecule and chemokine C-X-C motif receptor 6) only a statistically significant correlation between only one gene with the filtered SNP mutation list was found. (aacrjournals.org)
  • This gene was the interleukin 6 signal transducer (IL6ST) with a SNP mutation in rs2228046 resulting in a switch from isoleucine to threonine. (aacrjournals.org)
  • For example, a single-base mutation in the APOE (apolipoprotein E) gene is associated with a higher risk for Alzheimer's disease. (wikipedia.org)
  • genotypes
  • To compare these genes with existing gene expression, admixture analysis was performed on the TCGA genotypes from the Affymetrix Genome-Wide Human SNP Array 6.0 using normal tissues. (aacrjournals.org)
  • repair genes
  • Genetic variation in DNA repair genes could cause altered DNA repair function, resulting in accumulation of DNA damage, followed by programmed cell death (apoptosis) or unregulated cell growth and cancer. (aacrjournals.org)
  • patients
  • RHAMM has also been identified as one of 4 gene products identified in circulating tumor cells in patients with lung adenocarcinoma. (wikipedia.org)
  • The genotype distribution in breast cancer patients (CC 63.9 %, CT 33.7 %, TT 2.4 %) and controls (69.7 %, CT 28.3 %, TT 2 %) showed no significant difference (OR 0.77, 95 % CI 0.41-1.42, p = 0.4). (springer.com)
  • In conclusion, we are the first to report on 811C/T SEP 15 polymorphism in white breast cancer patients. (springer.com)
  • Gene expression analysis was performed on tumors by stage (I to III) or subtype (Luminal A, Luminal B, HER2 positive or Triple Negative) between AA with CA patients. (aacrjournals.org)
  • background treatment according to standards fpr triple negative and Her2pos breast cancer patients Paclitaxel: 80 mg/m² i.v. given weekly on day 1 q day 8 for 18 weeks. (clinicaltrials.gov)
  • mir-27b expression is associated with survival in triple negative breast cancer patients. (wikipedia.org)
  • Loss of nuclear WRAP53β is also correlated with shortened survival and resistance to radiotherapy in patients with head and neck cancer. (wikipedia.org)
  • A study based on the 1998 Patient Care Evaluation in the US found that about a third of patients diagnosed with prostate cancer had one or more such symptoms, while two-thirds had no symptoms. (wikipedia.org)
  • genome
  • Human CXCR5 genome location and CXCR5 gene details page in the UCSC Genome Browser. (wikipedia.org)
  • plural /snɪps/), is a variation in a single nucleotide that occurs at a specific position in the genome, where each variation is present to some appreciable degree within a population (e.g. (wikipedia.org)
  • A tag SNP is a representative single-nucleotide polymorphism (SNP's) in a region of the genome with high linkage disequilibrium (the non-random association of alleles at two or more loci). (wikipedia.org)
  • This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat NAT2 genes. (wikipedia.org)
  • polymerase
  • We studied the 811C/T (rs5845) Sep15 gene polymorphism in 182 Caucasian women-83 breast cancer cases and 99 healthy controls-by pyrosequencing and polymerase chain reaction. (springer.com)
  • This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. (genecards.org)
  • GO annotations related to this gene include DNA-directed 5-3 RNA polymerase activity and RNA polymerase I activity . (genecards.org)
  • human
  • The presence of breast tumor cell subsets with high RHAMM expression is associated with reduced metastasis free survival and mediates migration, transformation, and metastatic spread of the triple negative human BCa cell line MDA-MB-231. (wikipedia.org)
  • From 2002 onwards, the HapMap Project aggregated information on the one-letter genetic differences that recur in the human population-the single nucleotide polymorphisms-and their relationship with disease. (wikipedia.org)
  • ESR1
  • There are two different forms of the estrogen receptor, usually referred to as α and β, each encoded by a separate gene (ESR1 and ESR2, respectively). (wikipedia.org)
  • prostate
  • Prostate Cancer Prostatic Dis. (wikipedia.org)
  • Prostate cancer is the development of cancer in the prostate, a gland in the male reproductive system. (wikipedia.org)
  • Although most prostate cancers are grow slowly, some grow relatively quickly. (wikipedia.org)
  • The cancer cells may spread from the prostate to other area of the body, particularly the bones and lymph nodes. (wikipedia.org)
  • Prostate cancer is diagnosed by biopsy. (wikipedia.org)
  • Prostate cancer screening is controversial. (wikipedia.org)
  • Prostate-specific antigen (PSA) testing increases cancer detection but does not decrease mortality. (wikipedia.org)
  • Most people with prostate cancer do not end up dying from the disease. (wikipedia.org)
  • Studies of males who died from unrelated causes have found prostate cancer in 30% to 70% of those over age 60. (wikipedia.org)
  • Early prostate cancer usually has no clear symptoms. (wikipedia.org)
  • Sometimes prostate cancer does cause symptoms, often similar to those of diseases such as benign prostatic hyperplasia. (wikipedia.org)
  • Prostate cancer is associated with urinary dysfunction as the prostate gland surrounds the prostatic urethra. (wikipedia.org)
  • Because the vas deferens deposits seminal fluid into the prostatic urethra, and secretions from the prostate gland itself are included in semen content, prostate cancer may also cause problems with sexual function and performance, such as difficulty achieving erection or painful ejaculation. (wikipedia.org)
  • Metastatic prostate cancer that has spread to other parts of the body can cause additional symptoms. (wikipedia.org)
  • Prostate cancer in the spine can also compress the spinal cord, causing tingling, leg weakness and urinary and fecal incontinence. (wikipedia.org)
  • A complete understanding of the causes of prostate cancer remains elusive. (wikipedia.org)
  • Prostate cancer is very uncommon in men younger than 45, but becomes more common with advancing age. (wikipedia.org)
  • transcription
  • MYBL2 is a transcription factor, which regulates the expression of genes involved in cancer progression. (diva-portal.org)
  • The FOXO (Forkhead Box O) gene sub-family encodes tumour-suppressive transcription factors that regulate multiple aspects of cell cycle progression and survival. (wikipedia.org)
  • Once activated by estrogen, the ER is able to translocate into the nucleus and bind to DNA to regulate the activity of different genes (i.e. it is a DNA-binding transcription factor). (wikipedia.org)
  • The N-terminal A/B domain is able to transactivate gene transcription in the absence of bound ligand (e.g., the estrogen hormone). (wikipedia.org)
  • While this region is able to activate gene transcription without ligand, this activation is weak and more selective compared to the activation provided by the E domain. (wikipedia.org)
  • The E-domain in the presence of bound ligand is able to activate gene transcription. (wikipedia.org)
  • expression
  • In conclusion, our study suggests a role of genetic variation in BIRC5, BCL2 and CLU as progression and prognostic markers for BC, supporting previous studies based on the expression of the genes. (diva-portal.org)
  • RHAMM is over expressed in breast cancer and its expression in triple negative and HER2 subtypes is associated with poor outcome. (wikipedia.org)
  • Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells. (snpedia.com)
  • Structure-expression relationships of the 15-kDa selenoprotein gene. (springer.com)
  • Furthermore, there is a significant lack of a mechanistic understanding in the measured gene expression network signature between AA and CA BCa tumors. (aacrjournals.org)
  • The use of this approach may uncover additional tumor gene expression that is a result of ancestral variation in coding sequences. (aacrjournals.org)
  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. (genecards.org)
  • Regulation of aromatase expression in breast cancer treated with anastrozole neoadjuvant therapy. (snpedia.com)
  • Gene expression affected by this type of SNP is referred to as an eSNP (expression SNP) and may be upstream or downstream from the gene. (wikipedia.org)
  • The gene tends to have expression correlated to lymphatic system, vascular/arterial endothelial tissue, and notable expression in the bladder based on expression profiles and microarray analysis. (wikipedia.org)
  • TMEM217 was also found to have similar expression patterns as TRPM2, a biomarker linked to breast carcinoma. (wikipedia.org)
  • Both ERs are widely expressed in different tissue types, however there are some notable differences in their expression patterns: The ERα is found in endometrium, breast cancer cells, ovarian stromal cells, and the hypothalamus. (wikipedia.org)