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)

Magnetic resonance imaging (MRI) of the breast is the most sensitive imaging modality for detecting cancer. With improved scan resolution and correctly applied clinical indications, the specificity of breast MRI has markedly improved in recent years. Current literature indicates an overall sensitivity for breast MRI of 98% - 100% and specificity of 88%. By comparison, the sensitivity and specificity for mammography is in the region of 71% and 98%, respectively. In particular, the very high negative predictive value (NPV) of breast MRI, which approaches 100%, is hugely useful in establishing absence of disease. Furthermore, the ability to accurately delineate viable cancer by way of combining both morphological and functional (contrast enhancement) capabilities means that MRI is the best tool we have in terms of local cancer staging and identifying residual or recurrent disease. The high NPV also means that breast MRI is uniquely capable of ruling out cancer or high-grade ductal carcinoma in situ in appropriate circumstances. I hope that the following guidelines that are based on those of the American College of Radiology and the European Society of Breast Imaging in addition to multiple review articles will provide some assistance to radiologists in terms of the correct indications for breast MRI. There are few formal guidelines in South Africa for the usage of breast MRI. In fact, there is a general paucity of guidelines in the international radiology world. The role of breast MRI in high-risk screening and identification of the primary in occult breast cancer is universally accepted. Thereafter, there is little consensus. By using some general guidelines, and bringing MRI into the discussion of multidisciplinary breast cancer management, good clinical practice and consistent decision-making can be established.
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PMID:Understanding indications and defining guidelines for breast magnetic resonance imaging. 3175 13

Human epidermal growth factor receptor 2 (HER2)-positive breast cancer is a distinct subset of breast cancer that results from overexpression of HER2 protein. Pertuzumab-a recombinant humanized monoclonal antibody that binds to the extracellular dimerization domain II of HER2-was recently approved for adjuvant therapy and neoadjuvant therapy of HER2-positive early breast cancer. As pertuzumab and trastuzumab bind to different domains of the extracellular dimerization domain of HER2, a combination therapy of pertuzumab and trastuzumab is beneficial for the treatment of metastatic cancer, advanced local cancer, or early cancer by dual HER2 blockage. Many clinical trials have been performed using pertuzumab for breast cancer patients; these include the CLEOPATRA trial for palliative therapy, the APHINITY trial for adjuvant therapy, and the NeoSphere and the TRYPHAENA trials for neoadjuvant therapy. These trials revealed pertuzumab to be a safe and effective drug regardless of the patient age and hormone receptor status. Notably, pertuzumab use was associated with severe cardiac toxicity in some cases; however, the risk of pertuzumab-induced cardiac dysfunction was low. The most common adverse effect associated with pertuzumab-use was diarrhea, but most cases were not severe. Several different chemotherapeutic agents have been investigated to determine optimal chemotherapeutic combinations for dual HER2 blockage. Some exploratory analyses indicate that pertuzumab treatment offered little benefit to patients with node-negative and small primary tumors; pertuzumab treatment was also found not be cost-effective. Further research will reveal the appropriate usage of pertuzumab for treating a subset of eligible patients.
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PMID:Pertuzumab in the treatment of HER2-positive breast cancer: an evidence-based review of its safety, efficacy, and place in therapy. 3180 90

High local post-surgical cancer recurrence severely impairs the patients' prognosis and survival rates. Here, an injectable in situ forming hydrogel was designed to locally controlled release gemcitabine (GEM) and doxorubicin (DOX) to prevent local cancer recurrence. The hydrogel was rapidly formed at the post-surgical cavity after the aldehyde hyaluronic acid (HA-CHO) and the carboxymethyl chitosan (CM-CS) were mixed and immediately injected. Meanwhile, DOX was conjugated to HA-CHO and GEM was doped in CM-CS to obtain GD-HA/CS-Gel. The drug-free hydrogels showed low cytotoxicity on L929 cells and good in vivo biocompatibility. The hydrogels had appropriate viscoelasticity and rapid self-healing ability, favoring long-term local residence at the injected site where GEM quickly released and DOX slowly released. GEM and DOX showed the synergistic anticancer effect on 4T1 cells. Breast cancer 4T1-cell xenograft models were established and the tumors were surgically resected. GD-HA/CS-Gel was implanted in the post-surgical cavity and cancer recurrence and distant lung metastasis were completely prevented in comparison with the single drug-loaded hydrogel or drug solutions. The locally implanted dual drug-loaded cavity-adaptive hydrogel is a promising medication for prevention of post-surgical tumor recurrence.
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PMID:Drug-loaded implantable surgical cavity-adaptive hydrogels for prevention of local tumor recurrence. 3197 62

Fanconi anemia (FA) is caused by biallelic mutations in FA genes. Monoallelic mutations in five of these genes (BRCA1, BRCA2, PALB2, BRIP1 and RAD51C) increase the susceptibility to breast/ovarian cancer and are used in clinical diagnostics as bona-fide hereditary cancer genes. Increasing evidence suggests that monoallelic mutations in other FA genes could predispose to tumor development, especially breast cancer. The objective of this study is to assess the mutational spectrum of 14 additional FA genes (FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FANCP, FANCQ, FANCR and FANCU) in a cohort of hereditary cancer patients, to compare with local cancer-free controls as well as GnomAD. A total of 1021 hereditary cancer patients and 194 controls were analyzed using our next generation custom sequencing panel. We identified 35 pathogenic variants in eight genes. A significant association with the risk of breast cancer/breast and ovarian cancer was found for carriers of FANCA mutations (odds ratio (OR) = 3.14 95% confidence interval (CI) 1.4-6.17, p = 0.003). Two patients with early-onset cancer showed a pathogenic FA variant in addition to another germline mutation, suggesting a modifier role for FA variants. Our results encourage a comprehensive analysis of FA genes in larger studies to better assess their role in cancer risk.
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PMID:Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 3223 14


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