[HTML][HTML] Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia
M Bogliolo, D Bluteau, J Lespinasse, R Pujol… - Genetics in …, 2018 - Elsevier
Purpose Mutations in genes involved in Fanconi anemia (FA)/BRCA DNA repair pathway
cause cancer susceptibility diseases including familial breast cancer and Fanconi anemia
(FA). A single FA patient with biallelic FANCM mutations was reported in 2005 but
concurrent FANCA pathogenic mutations precluded assignment of FANCM as an FA gene.
Here we report three individuals with biallelic FANCM truncating mutations who developed
early-onset cancer and toxicity to chemotherapy but did not present congenital …
cause cancer susceptibility diseases including familial breast cancer and Fanconi anemia
(FA). A single FA patient with biallelic FANCM mutations was reported in 2005 but
concurrent FANCA pathogenic mutations precluded assignment of FANCM as an FA gene.
Here we report three individuals with biallelic FANCM truncating mutations who developed
early-onset cancer and toxicity to chemotherapy but did not present congenital …
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