Article

A homozygous hypomorphic <i>BRCA2</i> variant causes primary ovarian insufficiency without cancer or Fanconi anemia traits

2019-08-31

Abstract excerpt

<h4>ABSTRACT</h4> Primary Ovarian insufficiency (POI) affects 1% of women under forty. We studied a patient with a non-syndromic POI, from a consanguineous Turkish family. Exome sequencing identified a homozygous missense variant c.8524C>T/p.R2842C in BRCA2 . BRCA2 is a major player in homologous recombination (HR). BRCA2 deficiency induces cancer predisposition and Fanconi Anemia (FA). Remarkably, neither the p...

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Literature Corpus work: 694a5bf3-e48a-5a17-abda-48176c7a02e1
DOI: 10.1101/751644

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