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The neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction.

Valeria Stella VanniGiovanni CampoRaffaella CioffiEnrico PapaleoAlessia d'ArmaPaola ViganoMatteo LambertiniMassimo CandianiDror MeirowRaoul Orvieto
Published in: Human reproduction update (2022)
The so far 'neglected' members of the FA/BRCA family will likely emerge as a relevant focus of investigation in the genetics of reproduction. Several (rather than a single) non-BRCA genes might be implicated. State-of-the-art methods, such as whole-genome/exome sequencing, and further exploratory studies are required to understand the prevalence and mechanisms for occult FA mutations in infertility and recurrent miscarriage.
Keyphrases
  • breast cancer risk
  • chronic kidney disease
  • risk factors
  • genome wide
  • type diabetes
  • dna methylation
  • skeletal muscle
  • insulin resistance
  • iron deficiency
  • genome wide analysis