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Article

Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.

International journal of molecular sciences - 20 Nov 2024

Helbling-Leclerc Anne, Falampin Marie, Heddar Abdelkader, Guerrini-Rousseau Léa, Marchand Maud, Cavadias Iphigenie, Auger Nathalie, Bressac-de Paillerets Brigitte, Brugieres Laurence, Lopez Bernard S, Polak Michel, Rosselli Filippo, Misrahi Micheline

Abstract excerpt

The use of next-generation sequencing (NGS) has recently enabled the discovery of genetic causes of primary ovarian insufficiency (POI) with high genetic heterogeneity. In contrast, the causes of diminished ovarian reserve (DOR) remain poorly understood. Here, we identified by NGS and whole exome sequencing (WES) the cause of isolated DOR in a 14-year-old patient. Two frameshift mutations in BRCA1 (NM_007294.4)...

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Identifiers

PMID: 39596525
DOI: 10.3390/ijms252212460
PMCID: PMC11594631

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