Case Report: Biallelic BRCA1 pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location

Pathogenic alterations in BRCA1 are associated with autosomal dominant breast and ovarian cancer and autosomal recessive Fanconi Anemia Subtype S (FA-S). FA-S accounts for <1% of all reported cases of FA with only ten patients identified in the literature to-date. Here we describe an eleventh FA-...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Colin C. Young, Ashley Lahr, Caroline Nestor, Ashley Kaminski, Marcy E. Richardson, Georgianne L. Arnold
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2025-05-01
coleção:	Frontiers in Oncology
Assuntos:	oncology BRCA1 Fanconi anaemia splicing case report
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fonc.2025.1572310/full
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!