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 OrvietoPublished 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.