Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Evidence exists that BRCA2 carriers may have an elevated risk of breast, ovarian, colon, prostate, and pancreatic cancer. In general, carriers are defined as individuals with protein truncating mutations within the BRCA2 gene. Many Brca2 knockout lines have been produced and characterized in the mouse. We previously produced a rat Brca2 knockout strain in which there is a nonsense mutation in exon 11 between BRC repeats 2 and 3, and a truncated protein is produced. Interestingly, while such a mutation in homozygous mice would lead to limited survival of approximately 3 months, the Brca2-/- rats are 100% viable and the vast majority live to over 1 year of age. Brca2-/- rats show a phenotype of growth inhibition and sterility in both sexes. Aspermatogenesis in the Brca2-/- rats is due to a failure of homologous chromosome synapsis. Long-term phenotypes include underdeveloped mammary glands, cataract formation and lifespan shortening due to the development of tumors and cancers in multiple organs. The establishment of the rat Brca2 knockout model provides a means to study the role of Brca2 in increasing cancer susceptibility and inducing a novel ocular phenotype not previously associated with this gene.
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PMID:Characterizing a rat Brca2 knockout model. 1696 88

Breast cancer risk factor analysis allows the identification of women at very high risk for the future development of breast cancer. Many of the known risk factors are either not modifiable or are not reasonably modifiable because of social implications or other potential health benefits (eg, those associated with hormone replacement therapy). Thus, effective strategies to decrease the risk of breast cancer are needed. The recent demonstration that the use of tamoxifen for 5 years decreases the future risk of breast cancer by approximately 49% provides the opportunity for a risk-reduction intervention. Women taking tamoxifen must be monitored for the occurrence of well-defined toxicities, including hot flashes and, more rarely, endometrial carcinoma, thromboembolic disease, and cataract formation. Strategies are available for the management of tamoxifen toxicity. In special circumstances, such as in carriers of BRCA1 or BRCA2 mutations, the risk of future breast cancer is very high, and the performance of a bilateral prophylactic mastectomy may be considered. Women considering bilateral prophylactic mastectomy should undergo multidisciplinary consultation so that they may make a fully informed decision. The panel strongly encourages patients and health care providers to participate in clinical trials to test new strategies for decreasing the risk of breast cancer. Only through the accumulated experience gained from well-designed, prospective clinical trials will additional advances in the reduction of breast cancer risk be realized.
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PMID:Breast Cancer Risk Reduction Clinical Practice Guidelines in Oncology. 1976 86