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Article

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

European journal of medical genetics - 1 Mar 2018

Freire Bruna L, Homma Thais K, Funari Mariana F A, Lerario Antônio M, Leal Aline M, Velloso Elvira D R P, Malaquias Alexsandra C, Jorge Alexander A L

Abstract excerpt

BACKGROUND: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. CLINICAL...

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Source

Identifiers

PMID: 29133208
DOI: 10.1016/j.ejmg.2017.11.003

Genes

BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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