Pancreatic cancer in bloom syndrome. (June 2019)

• Record Type: Journal Article
• Authors: Tzfoni, Itai; Chayo, Jennifer; Shaked, Meital; Bernstein, Ezra; Dekel, Roy; Arber, Nadir; Shapira, Shiran
• Is Part Of: SAGE open medical case reports. Volume 7(2019)
• Publication Date: 2019-06
• Subjects: Cancer prevention -- cancer screening -- oncology; Clinical medicine -- Case studies -- Periodicals; 616.09
• DOI: 10.1177/2050313X19855587
• Languages: English
• ISSNs: 2050-313X

Abstract

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.