Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia

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Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia

Medulloblastoma, the most common malignant brain tumor in children, occurs with increased frequency in individuals with Fanconi anemia who have biallelic germline mutations in BRCA2. We describe an 8-year-old child who had disseminated anaplastic medulloblastoma and a deleterious heterozygous BRCA2 6174delT germline mutation. Molecular profiling was consistent with Group 4 medulloblastoma. The ...

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Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

Fanconi anemia is an inherited disease characterized by bone marrow failure, congenital malformations, and predisposition to cancer. The breast cancer susceptibility gene BRCA2 was recently found to be associated with Fanconi anemia complementation group D1 (FA-D1). We examined four kindreds afflicted with Fanconi anemia for the presence of germline BRCA2 mutations. One kindred, of Ashkenazi Je...

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Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

The breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia (FA) gene FANCD1. Here we expand the clinical implications of this discovery. Notably, we identified 6 children in 5 kindreds exhibiting the co-occurrence of BRCA2 mutations, FA, and early onset acute leukemia. Leukemia occurred at a median of 2.2 years of age in the BRCA2 patients in con...

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Malignant Brenner tumor associated with a germline BRCA2 mutation

•The first woman with a Malignant Brenner tumor and a BRCA2 mutation is described.•Not all women with epithelial ovarian cancers are referred for genetic counseling.•Women should be referred for genetics regardless of how rare the histology.

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Background Autoimmune hemolytic anemia is a hematologic disorder that is rarely observed in infants and young children. Most of the cases are associated with viral or bacterial infections. In some cases, AIHA can be characterized by a chronic course and an unsatisfactory control of hemolysis, thus requiring prolonged immunosuppressive therapy. Case report Especially in children younger...

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ژورنال

عنوان ژورنال: Frontiers in Oncology

سال: 2015

ISSN: 2234-943X

DOI: 10.3389/fonc.2015.00191