ArticleBiomarker research2015
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.
Article in Biomarker research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 40 citations in OpenAlex.
- Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- G-quadruplexes as a source of vulnerability in BRCA2Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.Journal of Korean Neurosurgical Society · 2025Article
- Medulloblastoma in children with Fanconi anemia: Association with FA-D1/FA-N, SHH type and poor survival independent of treatment strategies.Neuro-oncology · 2024Article
- Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.NPJ precision oncology · 2024Article
- Multidisciplinary approaches to study anaemia with special mention on aplastic anaemia (Review).International journal of molecular medicine · 2024Review
- Medulloblastomas Initiated by Homologous Recombination Defects in Mice.The American journal of pathology · 2024Article
- Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.Journal of hematology & oncology · 2024Article
- Newly Recognized Genetic Tumor Syndromes of the CNS in the 5th WHO Classification: Imaging Overview with Genetic Updates.AJNR. American journal of neuroradiology · 2024Review
- Double Heterozygosity for Rare Deleterious Variants in theInternational journal of molecular sciences · 2023Article
- Review
- Polyclonal evolution of Fanconi anemia to MDS and AML revealed at single cell resolution.Experimental hematology & oncology · 2022Article
- Case report: Somatic mutations in microtubule dynamics-associated genes in patients with WNT-medulloblastoma tumors.Frontiers in oncology · 2022Article
- Genetic syndromes predisposing to pediatric brain tumors.Neuro-oncology practice · 2021Review
- Precision Therapy for Brain Tumors in Hereditary Syndromes.Current treatment options in oncology · 2021Review
- Article
- Downregulation of miR-326 and its host gene β-arrestin1 induces pro-survival activity of E2F1 and promotes medulloblastoma growth.Molecular oncology · 2021Article
- Genetic Predisposition to Solid Pediatric Cancers.Frontiers in oncology · 2020Review
- Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.Frontiers in oncology · 2020Review
- Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas.Frontiers in pediatrics · 2020Review
Corrections and comments
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Authors and funding
19 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BRCA2/FANCD1 or its associated gene PALB2/FANCN. We report the case of a patient affected by Fanconi Anemia with Wilms tumor and unusual presentation of two medulloblastomas (MB1 and MB2). We identified a new pathogenetic germline BRCA2 mutation: c.2944_2944delA. Molecular analysis of MBs allowed us to define new features of MB in FA. MBs were found to belong to the Sonic Hedgehog (SHH) molecular subgroup with some differences between MB1 and MB2. We highlighted that MB in FA could share molecular aspects and hemispheric localization with sporadic adult SHH-MB. Our report provides new findings that shed new light on the genetic and molecular pathogenesis of MB in FA patients with implications in the disease management.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.