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

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 a...

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Detalles Bibliográficos
Autores principales: Chirita-Emandi, Adela, Andreescu, Nicoleta, Popa, Cristina, Mihailescu, Alexandra, Riza, Anca-Lelia, Plesea, Razvan, Ioana, Mihai, Arghirescu, Smaranda, Puiu, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Phenotypes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394758/
https://www.ncbi.nlm.nih.gov/pubmed/32843487
http://dx.doi.org/10.1136/jmedgenet-2020-107198

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394758/
https://www.ncbi.nlm.nih.gov/pubmed/32843487
http://dx.doi.org/10.1136/jmedgenet-2020-107198

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