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Hereditary cancer syndromes

20 Feb 2023

Abstract excerpt

DNA damage response is essential to human physiology.A broad spectrum of pathologies are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in DNA damage repair genes.DNA repair syndromes with biallelic disturbance of essential DNA damage response pathways manifest early in life with multi-systemic involvement and a high propensity for hematologic and solid cancers, as well as...

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PMID: 36908677
DOI: 10.5306/wjco.v14.i2.40

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