Article
Risk of cancer in heterozygous relatives of patients with Fanconi anemia.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2022
McReynolds Lisa J, Giri Neelam, Leathwood Lisa, Risch Maureen O, Carr Ann G, Alter Blanche P
Abstract excerpt
PURPOSE: Fanconi anemia (FA) is a cancer-prone inherited bone marrow failure syndrome caused by biallelic pathogenic variants in one of >22 genes in the FA/BRCA DNA repair pathway. A major concern is whether the risk of cancer is increased in individuals with a single pathogenic FA gene variant. METHODS: We evaluated the risk of cancer in the relatives of patients with FA in the National Cancer Institute...
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