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Association of CYP1B1 with hypersensitivity induced by Taxane therapy in breast cancer patients
Taxanes represent a group of anticancer drugs with a wide range of activity against breast cancer. Therapy side effects include haematologic toxicity (neutropenia, leucopenia), peripheral neuropathyExpand
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Coexistent Central and Peripheral Nervous System Involvement in a Charcot-Marie-Tooth Syndrome X-linked Patient
A 14-year-old boy with an episode of acute weakness resembling acute demyelinating encephalomyelitis and polyradiculoneuritis after a febrile illness is described. Molecular analysis showed aExpand
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Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
Highly penetrant variants of BRCA1/2 genes are involved in hereditary predisposition to breast and ovarian cancer. The detection of pathogenic BRCA variants has a considerable clinical impact,Expand
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Family history of pancreatic cancer in BRCA1/2 testing criteria.