Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia.

European journal of medical genetics - 1 Aug 2021

Radulovic Ivana, Kuechler Alma, Schündeln Michael M, Paulussen Michael, von Neuhoff Nils, Reinhardt Dirk, Hanenberg Helmut

Abstract excerpt

Fanconi anemia (FA) due to biallelic mutations in the BRCA2 gene is very rare and associated with an extremely high risk of early-onset of aggressive childhood malignancies, predominantly brain tumors, leukemia, and nephroblastoma. Here, we present a consanguineous family with three affected children of the D1 subtype of FA and describe the clinical consequences of the earliest known biallelic nonsense/stop-gain...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to BRCA2 Protein
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Fanconi Anemia

Share to Homozygote

Share to Infant

Share to Pedigree

Source

Identifiers

PMID: 34118472
DOI: 10.1016/j.ejmg.2021.104260

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia.PMID 34118472Read ↗

A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.Semantic proximity Read ↗

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.Semantic proximity Read ↗

Fanconi anemia and solid malignancies in childhood: a national retrospective study.Semantic proximity Read ↗

Fanconi Anaemia, Childhood Cancer and the BRCA Genes.Semantic proximity Read ↗

Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.Semantic proximity Read ↗

The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.Semantic proximity Read ↗

A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.Semantic proximity Read ↗

Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype.Semantic proximity Read ↗

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.Semantic proximity Read ↗

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragilitySemantic proximity Read ↗

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.Semantic proximity Read ↗

Coexistence of a BRCA2 germline and a DICER1 somatic variant in two first- degree young cousins: a potential cooperative role in determining cancer susceptibility?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.