Variation in the BRCA2 gene in a child with medulloblastoma and a family history of breast cancer

Bayraklı, Fatih; Akgun, Bekir; Söylemez, Burçak; Kaplan, Metin; Gurelik, Mustafa

doi:10.3171/2011.8.peds11210

Cited by 8 publications

(4 citation statements)

References 9 publications

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“…7 ). This feature may provide the rationale for new therapeutic approaches for MB, as also suggested by Bayrakli et al [ 26 ]. Platinum compounds or similar drugs, inducing growth arrest by ICL-stalled- DNA replication fork, could be combined with agents which take advantage of the incapacity of HR-deficient neoplastic cells to face up this stall (e.g.…”

Section: Case Presentationmentioning

confidence: 66%

“…Platinum compounds or similar drugs, inducing growth arrest by ICL-stalled- DNA replication fork, could be combined with agents which take advantage of the incapacity of HR-deficient neoplastic cells to face up this stall (e.g. enzyme poly-ADP-ribose polymerase I) [ 26 ]. Indeed, PARP- inhibition has already been shown to sensitize childhood glioma, medulloblastoma and ependymoma to radiation [ 57 ].…”

Section: Case Presentationmentioning

confidence: 99%

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Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

et al. 2015

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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.Electronic supplementary materialThe online version of this article (doi:10.1186/s40364-015-0038-z) contains supplementary material, which is available to authorized users.

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Section: Case Presentationmentioning

confidence: 66%

Section: Case Presentationmentioning

confidence: 99%

Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

et al. 2015

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“…This gene makes cells susceptible to various mutations, including oncogenic mutations [30]. Certain mutations, e.g., those in the BRCA genes, are inheritable [31].…”

Section: Dna Damage As the First Stage Of Malignant Transformationmentioning

confidence: 99%

Role of Stromal-Epithelial Interaction in the Formation and Development of Cancer Cells

Shtilbans

2013

Cancer Microenvironment

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Identification of gene expression mechanisms began with works on embryonic induction. The same mechanism of cell-cell interactions also contributes to the process of oncogenesis. Damage to epithelial cells' genetic apparatus turns them into precancerous stem cells that are not yet capable of tumor growth. They can be transformed into cancer stem cells and undergo further progression as a result of epigenetic effects of apocrine secretion by surrounding activated stromal cells (mostly myofibroblasts). These factors may activate the damaged genetic information. On the contrary, the level of malignancy can be decreased by adding culture medium from non-activated stromal cells. One must not exclude the possibility that in a number of cases genetically altered bone marrow may migrate to damaged or inflamed tissues and become there a source of stromal cells, as well as of parenchymal stem cells in a damaged organ, where they may give rise to changed epithelial (precancerous) stem cells or to activated stromal cells, thus leading to malignant tumor growth. Cancer treatment should also affect activated stromal cells. It may prevent emergence and progression of cancerous stem cells.

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“…More recently, they have been recognized to also play a role in CNS tumors (60). In particular, germline variants of BRCA2 which is also essential for normal neurogenesis (61) have been described in individuals with brain tumors including glial tumors, meningioma and medulloblastoma (62)(63)(64).…”

Section: Other Syndromes and Phggmentioning

confidence: 99%

Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas

et al. 2020

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Variation in the BRCA2 gene in a child with medulloblastoma and a family history of breast cancer

Cited by 8 publications

References 9 publications

Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

Role of Stromal-Epithelial Interaction in the Formation and Development of Cancer Cells

Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas

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