Browsing Genetics and Epidemiology by author "Sottoriva, Andrea"

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    • Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. 

      Palles, C; West, HD; Chew, E; Galavotti, S; Flensburg, C; et al. (CELL PRESS, 2022-05-05)
      We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic ...