Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup
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- 作者：Evelina Miele ; Angela Mastronuzzi ; Agnese Po ; Andrea Carai…
- 关键词：Fanconi anemia ; Medulloblastoma ; BRCA2 ; FANCD1 ; SHH molecular subgroup
- 刊名：Biomarker Research
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：3
- 期：1
- 全文大小：3,982 KB
- 刊物主题：Biomedicine general;
- 出版者：BioMed Central
- ISSN：2050-7771
文摘
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.