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Article

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

Pediatric hematology and oncology - 1 Jan 2023

Alghanim Hamad Mohammed, Eltawel Mohamed, Alhaidari Abdulmajeed Ibrahim, Alobaid Muhannad Mohammed, Moghairi Areej Mofareh, Sufiani Fahad, Ahmad Naveed

Abstract excerpt

Hereditary cancer predisposition accounts for more than 10% of all cancers in pediatric age group and this is increasingly recognized as an important entity because of modern sequencing techniques. We report a rare association of two concurrent cancer predisposition syndromes, BRCA2 and PMS2, in a young child who presented with concurrent malignancies including Wilms tumor, myelodysplastic syndrome and an...

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Share to BRCA2 Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mismatch Repair Endonuclease PMS2

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Source

Identifiers

PMID: 36731423
DOI: 10.1080/08880018.2022.2154417

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.

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