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Article

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

1 Jun 2020

Abstract excerpt

Background Primary ovarian insufficiency (POI) affects 1% of women under 40 years and is a public health problem. The genetic causes of POI are highly heterogeneous with isolated or syndromic forms. Recently, variants in genes involved in DNA repair have been shown to cause POI. Notably, syndromic POI with Fanconi anaemia (FA) traits related to biallelic BRCA2 truncated variants has been reported. Here, we report...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32482800
DOI: 10.1136/jmedgenet-2019-106672

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