Screening for Hereditary Cancer Syndromes
Venkata S Katabathina1, Haneen Marji1, Krishna P Shanbhogue2
1Department of Radiology, University of Texas Health, San Antonio, TX, USA.
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Hereditary cancer syndromes are characterized by increased susceptibility to early-onset development of multifocal, organ-specific, and pathogenetically unique tumors. Commonly inherited as autosomal dominant disorders, these syndromes are associated with germline mutations of single genes that function as tumor suppressor genes. Recent advances in genetics and pathology have thrown fresh light on the molecular biology, tumor pathways, and behavior of distinctive tumors that occur in these syndromes. Comprehensive investigations of these rare syndromes have led to a better understanding of the pathogenesis and management of the more common sporadic neoplasms, including deciphering of driver mutations, tumor pathways, natural history, and prognosis.
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