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Tumor predisposition and cancer syndromes as models to
by M Carbone 2020 Cited by 73 Highly penetrant germline mutations. Mutations in the genes encoding p53 and BAP1 are powerful inducers of cancer in humans and mouse models
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GI Tumor Syndromes - Kurts Notes
Germline mutations with mismatch repair (MMR) enzymes. Autosomal Dominant. defective DNA repair tons of mutations (hypermutated) microsatellite
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Overview of BAP1 cancer predisposition syndrome and the
by B Masoomian 2018 Cited by 83 BAP1 is a highly-penetrant germline mutation that has been recognized as an important predisposing factor for hereditary cancers, including UM.
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