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

doi:10.1371/journal.pone.0044753

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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...

Topics

5' Untranslated Regions
Adult
Alleles
Case-Control Studies
Cohort Studies
Female
Fragile X Mental Retardation Protein
Gene Expression Regulation
Genes, BRCA1
Genes, BRCA2
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heterozygote

Homozygote

Humans

Models, Genetic

Mutation

Risk

Source

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Identifiers

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

Genes

BRCA1
FMR1

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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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