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Article

BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?

PloS one - 1 Jan 2012

Weghofer Andrea, Tea Muy-Kheng, Barad David H, Kim Ann, Singer Christian F, Wagner Klaus, Gleicher Norbert

Abstract excerpt

BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries are independent of each other, is unknown. In a prospective comparative cohort study, we, therefore, investigated the distribution of constitutional FMR1...

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Identifiers

PMID: 22984553
DOI: 10.1371/journal.pone.0044753
PMCID: PMC3440327

Genes

BRCA1
FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?PMID 22984553Read ↗

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