Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0006142 (breast cancer)
 160,383 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the design and results of the first Israeli multicenter screening program for colorectal neoplasia. The screening protocol comprised a risk questionnaire, fecal occult blood testing, flexible sigmoidoscopy and colonoscopy. A total of 5,601 individuals were screened in five medical centers, 55% being asymptomatic with low or average risk. Colorectal tumors were found in 12.3% of screenees, the majority being adenomas. The risk for large bowel neoplasia was greatest in persons with a personal history of colorectal neoplasia (neoplasia rate 473.2/10(3)) and was increased in those with inflammatory bowel disease, a family history of colorectal tumor, or past history of cured breast cancer. European-born Jews had a 50% greater risk than non-European-born Jews. Persons at high risk were more likely to return for repeat screening than those at low or average risk. However, approximately 15% of persons at high risk actually thought that they were of average risk. Fecal occult blood testing was markedly less reliable than flexible sigmoidoscopy and had a false-negative rate of 84.4%. The results demonstrate that existing medical facilities in Israel can be used to screen at least those individuals with increased risk for colorectal neoplasia.
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PMID:Screening for colorectal neoplasia: a multicenter study in Israel. 173 7

A population-based cohort with inflammatory bowel disease consisting of 4776 patients (3121 with ulcerative colitis and 1655 with Crohn's disease) was followed for 1 to 50 years for the occurrence of malignant neoplasms. Two hundred eighty-three cancers were observed versus 189.1 expected (standardized incidence ratio [SIR] = 1.5, 95% confidence limits [CL] 1.3 to 1.7). One hundred seventy-eight extracolonic cancers were observed versus 168.8 expected (SIR = 1.1, 95% CL 0.9 to 1.2). In Crohn's disease and extensive ulcerative colitis, observed cases were close to those expected but in ulcerative proctitis, the relative risk of extracolonic cancers was close to significantly increased (SIR = 1.3, 95% CL 1.0 to 1.7). Squamous skin cancers after Crohn's disease (SIR = 5.5, 95% CL 2.0 to 11.9) and connective tissue cancers after ulcerative colitis (SIR = 4.0, 95% CL 1.0 to 10.2) were significantly increased. Those having extensive ulcerative colitis at diagnosis had an increased risk of brain cancers (SIR = 2.4, 95% CL 1.0 to 4.6). Patients with extensive ulcerative colitis had lower than expected risk of breast cancer (SIR = 0.4, 95% CL 0.1 to 1.0).
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PMID:Extracolonic malignancies in inflammatory bowel disease. 200 19

We carried out an epidemiological study of ulcerative colitis in 279 Israeli kibbutzim (121,403 population). The prevalence on December 31, 1987 was 121.08 per 100,000 population. When the data were stratified according to ethnic groups, the highest point prevalence was found in Israeli-born Jews (220.56 per 100,000 population), more than in Asian-African-born, or European-American-born kibbutz members (139.20 and 78.73 cases per 100,000 population, respectively). There were 68 men and 78 women (ratio of 0.87). The average age of the patients in the year of this survey was 46 years; it was 35 years at the time of diagnosis. Proctitis was found in 57%, left-sided colitis in 12%, and substantial or total colitis in 31%. Relapse at pregnancy was demonstrated in seven patients, and remission in one. Family history of a first-degree relative with inflammatory bowel disease was documented in three patients (2%). Probable complications of ulcerative colitis were observed in 38 (26%), anemia in 13 (9%). One patient (0.7%) with rectal cancer, also had breast cancer. We suggest that the impressive increase in ulcerative colitis prevalence among Israeli and Asian-African-born, in comparison with European-American-born kibbutz members, points toward a role of environmental factors in the etiology of this disease.
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PMID:Prevalence of ulcerative colitis in the Israeli kibbutz population. 200 57

We present data from two studies which clarify the relationship between the responsiveness and validity of instruments designed to measure health status in clinical trials. In a controlled trial of long vs short duration adjuvant chemotherapy for women with Stage II breast cancer, the Breast Cancer Chemotherapy Questionnaire (BCQ) proved valid as a measure of subjective health status and was able to distinguish long vs short arms. Well validated measures of physical and emotional function developed by the Rand Corporation were unable to distinguish between the two groups. The Eastern Co-operative Oncology Group Criteria (ECOG) distinguished the two groups, but failed criteria of clinical sensibility as a measure of subjective health status. In a study of patients with Crohn's disease and ulcerative colitis, the Inflammatory Bowel Disease Questionnaire (IBDQ) showed small intrasubject variability over time. Gobal ratings of change showed moderate to high correlations with changes in IBDQ score, and patients who reported overall improvement or deterioration showed large changes in IBDQ score. Each of these findings support, in different ways, the reproducibility, validity, and responsiveness of the questionnaire. While the same data can at times bear on both validity and responsiveness, when assessing evaluative instruments it is useful to make a conceptual distinction between the two.
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PMID:Responsiveness and validity in health status measurement: a clarification. 265 45

Sacroiliac uptake ratios based on 99Tcm methylene diphosphonate images were calculated in 14 patients with ankylosing spondylitis, 23 patients with non-specific backache, 33 patients with inflammatory bowel disease (ulcerative colitis 19, Crohn's disease 14) and 33 control subjects. Twenty-eight of the control subjects were patients referred from a breast cancer clinic. In the control subjects, and in 20 patients with inflammatory bowel disease who did not have back pain, sacroiliac ratios decreased significantly with increasing age (p less than 0.001 and p less than 0.01 respectively). Sacroiliac uptake ratios were significantly higher in ankylosing spondylitis than in patients with non-specific backache. Seven of the 14 patients with ankylosing spondylitis had higher sacroiliac ratios than any recorded in the control subjects. Eleven patients with inflammatory bowel disease had abnormally high sacroiliac uptake ratios; ten of these patients had back pain. Increased sacroiliac joint uptake in such patients may reflect early sacroiliitis. No relationship was detected between sacroiliac uptake and the activity of the bowel disease. Sacroiliac uptake ratios were significantly higher in the inflammatory bowel disease patients suffering from back pain than in age and sex matched patients with (a) inflammatory bowel disease but no back pain or (b) non-specific backache.
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PMID:Sacroiliac joint uptake ratios in inflammatory bowel disease: relationship to back pain and to activity of bowel disease. 621 68

The evidence of the effects of combined oral contraceptives (COCs) on mortality and morbidity is reviewed. All the 11 case-control studies published since 1980 reported and approximate halving of endometrial cancer risk among COC users. The CASH study showed that the protective effect was apparent after 12 months' use, and users had 40% of the risk of non-users after 2 years' use. A study showed that 5 patterns of self-perceived prolonged, heavy, frequent, irregular, or painful bleeding during menstruation were reported less frequently in COC users than in users of other methods. Benign breast disease is rarer, and functional ovarian cysts are less frequent in COC users. Lower-dose preparations may carry a lower risk of myocardial infarction. Smoking possibly potentiates the risk associated with oral contraceptive (OC) use, and it is a major risk factor for myocardial infarction. The Oxford/FPA study found a 2-3-fold increase in incidence of non-haemorrhagic stroke among current OC users. The epidemiologic data on the current risk of venous thromboembolism in relation to OC use are equivocal. New lower dose COCs have a smaller adverse effect on the lipid profile: they cause a smaller increase in low density lipoprotein cholesterol (LDL) and a variable but smaller decrease in high density lipoprotein cholesterol (HDL). The large CASH study, based on 2088 cases, found a significantly elevated relative risk (2.7) of breast cancer, but only in women who had used the OC for at least 11 years. Of 6 case-control studies of hepatocellular carcinoma and OC use published since 1983, all but one showed a large elevated relative risk of around 4-fold. Delayed return of fertility has been observed in nulliparous women 30 who had 2 years; continuous exposure to COCs, although this may not be associated with low-dose, modern OCs. Malignant melanoma, pituitary adenoma, gallbladder disease, and chronic inflammatory bowel disease have been possibly associated with adverse side effects, but results are so far inconclusive.
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PMID:Combined oral contraceptives: risks and benefits. 832 3

The aim of our review is to summarize common genetic variations of some receptors associated with clinical consequences, which were not outlined in the previous special issue of this journal. Because of the multiple pathomechanisms of diseases, a set of genetic variation can play a role in the development of pathological conditions. From the data available three articles would merit a greater interest. In systemic lupus erythematosus the associations related to some polymorphisms of Fc-, tumor necrosis factor (TNF) alpha- and interferon receptor may explore new autoimmunological and inflammatorical pathomechanisms. In the endocrinology, the androgen receptor repeat polymorphism will exert significant aspects in the development of prostate cancer. The pleoitropic responsibility of vitamin D3 receptor polymorphism in the pathogenesis of immunological disorders (primary biliary cirrhosis, inflammatory bowel disease, type 1 diabetes mellitus) and of malignancies (malignant melanoma, breast cancer) shed light on the importance of common nuclear receptors. Nevertheless, in the future studies a more consistent approach minimizing requirement bias in the selection of patients will approve our understanding the role of genetic influence on the pathogenesis of diseases.
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PMID:Receptor polymorphisms and diseases. 1123 Sep 90

There is increasing evidence that breastfeeding has long term beneficial effects on the infant. The most important are improved cognitive development, reduced incidence of immune related diseases (e.g. Type-1 diabetes and inflammatory bowel disease), and childhood cancers. A reduced risk of breast cancer in the mother is another important benefit.
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PMID:Long term effects of breastfeeding on the infant and mother. 1613 1

The genome-wide association approach has been the most powerful and efficient study design thus far in identifying genetic variants that are associated with complex human diseases. This approach became feasible as the result of several key advancements in genetic knowledge, genotyping technologies, statistical analysis algorithms and the availability of large collections of cases and controls. With all these necessary tools in hand, many genome-wide association studies were recently completed, and many more studies which will explore the genetic basis of various complex diseases and quantitative traits are soon to come. This approach has started to reap the fruits of its labor over the past several months. Publications of genome-wide association studies in several complex diseases such as inflammatory bowel disease, type-2 diabetes, breast cancer and prostate cancer have been abundant in the first half of this year. The aims of this review are firstly, to provide a timely summary for most of the genome-wide association studies that have been published until June/July 2007 and secondly, to evaluate to what extent these results have been validated in subsequent replication studies.
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PMID:The success of the genome-wide association approach: a brief story of a long struggle. 1828 37

Inflammatory bowel disease constitutes two related clinical entities, Crohn's disease (CD) and ulcerative colitis (UC), both of which have increased in prevalence over the last decade. Family and twin studies have strongly indicated that genetic factors play a large role in an individual's risk of developing inflammatory bowel disease. Despite this, it has proven difficult to isolate disease genes that confer susceptibility to this disease using classical candidate gene and linkage approaches, with the notable exception of the isolation of the caspase recruitment domain family, member 15 (CARD15) gene. However, over the last 2 years, genome-wide association (GWA) studies have become feasible, where modern high-throughput single nucleotide polymorphism (SNP) genotyping technologies can be applied to large and comprehensively phenotyped patient cohorts. Such approaches have enabled scientists to robustly associate specific variants with many complex diseases, including age-related macular degeneration, Type 2 diabetes, breast cancer and asthma. In the inflammatory bowel disease field, positive associations with CD and UC coming from GWA studies have been reported for an ever increasing number of genes. The most consistently and strongly associated variants have been in the CARD15, the interleukin 23 receptor (IL23R) and autophagy-related 16-like 1 (ATG16L1) genes. With respect to ATG16L1, the G allele of SNP rs2241880 has been shown in multiple association studies to confer strong risk for CD, although its association with UC remains more debatable. This SNP is in fact a common coding variant, specifically a threonine-to-alanine substitution at amino acid position 300 of the ATG16L1 protein (T300A), and appears to account for all of the disease risk conferred by this locus. This review addresses recent advances in GWA studies of inflammatory bowel disease, with specific focus on the growing evidence of the ATG16L1 gene's role in CD and how its protein product operating within the autophagic pathway makes autophagy an attractive therapeutic target for this debilitating disorder.
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PMID:Classification of genetic profiles of Crohn's disease: a focus on the ATG16L1 gene. 1836 6


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