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Article

Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.

Journal of medical genetics - 1 Sept 2021

Chirita-Emandi Adela, Andreescu Nicoleta, Popa Cristina, Mihailescu Alexandra, Riza Anca-Lelia, Plesea Razvan, Ioana Mihai, Arghirescu Smaranda, Puiu Maria

Abstract excerpt

Pathogenic variants in BRCA1 gene in heterozygous state are known to be associated with breast-ovarian cancer susceptibility; however, biallelic variants cause a phenotype recognised as Fanconi anaemia complementation group S. Due to its rarity, medical management and preventive screening measures are insufficiently understood. Here, we present nine individuals (one new and eight previously presented) with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32843487
DOI: 10.1136/jmedgenet-2020-107198
PMCID: PMC8394758

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