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Infrequent fractures and resilient bone mineral density: bone health in patients with Fanconi anemia.

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Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Centre, Cincinnati, OH USA; Department of Paediatrics, University of Cincinnati College of Medicine, Cincinnati.

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Constitutional heterozygous pathogenic variants in genes coding for some components of the Fanconi anemia-BRCA signaling pathway, which repairs DNA interstrand crosslinks, represent risk factors for common cancers, including breast, ovarian, pancreatic and prostate cancer. A high cancer risk is also a main clinical feature in patients with Fanconi anemia (FA), a rare condition characterized by bone marrow failure, endocrine and physical abnormalities. The mainly recessive condition is caused by germline pathogenic variants in one of 21 FA-BRCA pathway genes.

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