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Hereditary Diseases
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1. Clinical management of BRCA1 and BRCA2 mutation carriers.
Match Strength: 6.762

The cancer susceptibility genes BRCA1 and BRCA2 appear to be responsible for virtually all hereditary breast ovarian families, and a smaller subset of hereditary site-specific breast cancer families. Fortunately, effective strategies have been developed to reduce the risk for the development of breast and ovarian cancer in women with BRCA1/2 mutations, making genetic testing for these mutations an important part of the management at women with a strong family history of these diseases. Here, we review the current evidence for risk reduction strategies and outline future research directions. ... Read More »
» Published in Oncogene. 2006 Sep 25;25(43):5825-31.

2. Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease.
Match Strength: 6.163

OBJECTIVE: Familial cold autoinflammatory syndrome (FCAS) is a rare, hereditary disorder characterized by cold-induced inflammation. We describe the successful longterm treatment of a patient with FCAS with anakinra, an interleukin 1 receptor antagonist (IL-1Ra). The remarkable response of FCAS and associated Raynaud's disease in this patient suggests that IL-1 is an important mediator of these inflammatory diseases. Our report supports increasing evidence that anakinra plays an important role in the treatment of select chronic inflammatory diseases ... Read More »
» Published in J Rheumatol. 2006 Oct;33(10):2085-7. Epub 2006 Sep 15.

3. Mutations of TGFbeta signaling molecules in human disease.
Match Strength: 3.246

The transforming growth factor beta (TGFbeta) signaling pathway regulates several biological processes including cellular proliferation, differentiation, apoptosis, migration, and extracellular matrix deposition. Ligand and receptor family members signal through two main Smad signaling branches, TGFbeta/activin to Smad2/3 (Sma and MAD-related proteins) and bone morphogenetic protein (BMP) to Smad1/5. At the molecular level, TGFbeta acts by modifying cytoskeletal organization and ultimately regulating expression of specific target genes. Germline disruption of TGFbeta signaling leads to several ... Read More »
» Published in Ann Med. 2006;38(6):403-14.

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