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Article

Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor.

Pediatric blood & cancer - 1 Dec 2009

Dewire Mariko D, Ellison David W, Patay Zoltan, McKinnon Peter J, Sanders Robert P, Gajjar Amar

Abstract excerpt

Medulloblastoma, the most common pediatric malignant brain tumor often arises sporadically; however, in a subgroup of patients, there exist familial conditions such as Fanconi anemia with biallelic BRCA2 mutation that predispose patients to developing medulloblastoma. Biallelic inactivation of BRCA2 in Fanconi anemia has been previously described in only 11 patients with medulloblastoma in the literature to date....

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Identifiers

PMID: 19530235
DOI: 10.1002/pbc.22139
PMCID: PMC3782106

Genes

BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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