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

Human reproduction update - 28 Feb 2022

Vanni Valeria Stella, Campo Giovanni, Cioffi Raffaella, Papaleo Enrico, Salonia Andrea, Viganò Paola, Lambertini Matteo, Candiani Massimo, Meirow Dror, Orvieto Raoul

Abstract excerpt

BACKGROUND: BReast CAncer (BRCA) genes are extensively studied in the context of fertility and reproductive aging. BRCA proteins are part of the DNA repair Fanconi anemia (FA)/BRCA pathway, in which more than 20 proteins are implicated. According to which gene is mutated and which interactions are lost owing to the mutation, carriers and patients with monoallelic or biallelic FA/BRCA mutations exhibit very...

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PMID: 35043201
DOI: 10.1093/humupd/dmab045

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