Pancreatic cancer in bloom syndrome
| Autor: | Itai Tzfoni, Jennifer Chayo, Meital Shaked, Ezra Bernstein, Roy Dekel, Nadir Arber, Shiran Shapira |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | SAGE Open Medical Case Reports, Vol 7 (2019) |
| Druh dokumentu: | article |
| ISSN: | 2050-313X 2050313X |
| DOI: | 10.1177/2050313X19855587 |
| Popis: | Bloom syndrome is a rare autosomal recessive disorder characterized by distinct physical features, such as short stature, genomic instability, and predisposition to numerous cancers. The BLM gene encodes for the RecQ helicase that plays an important role in genome editing, maintenance, and stability. Mutations in the BLM gene cause genomic instability that exposes the carriers to a variety of cancers, and in particular hematological and gastrointestinal cancers. Herein, we report the first case of pancreatic cancer in a 32-year-old patient with bloom syndrome. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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