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Pancreatic cancer in bloom syndrome

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...

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Detalles Bibliográficos
Autores principales: Tzfoni, Itai, Chayo, Jennifer, Shaked, Meital, Bernstein, Ezra, Dekel, Roy, Arber, Nadir, Shapira, Shiran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552343/
https://www.ncbi.nlm.nih.gov/pubmed/31210938
http://dx.doi.org/10.1177/2050313X19855587
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author Tzfoni, Itai
Chayo, Jennifer
Shaked, Meital
Bernstein, Ezra
Dekel, Roy
Arber, Nadir
Shapira, Shiran
author_facet Tzfoni, Itai
Chayo, Jennifer
Shaked, Meital
Bernstein, Ezra
Dekel, Roy
Arber, Nadir
Shapira, Shiran
author_sort Tzfoni, Itai
collection PubMed
description 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.
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spelling pubmed-65523432019-06-17 Pancreatic cancer in bloom syndrome Tzfoni, Itai Chayo, Jennifer Shaked, Meital Bernstein, Ezra Dekel, Roy Arber, Nadir Shapira, Shiran SAGE Open Med Case Rep Case Report 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. SAGE Publications 2019-06-04 /pmc/articles/PMC6552343/ /pubmed/31210938 http://dx.doi.org/10.1177/2050313X19855587 Text en © The Author(s) 2019 http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Tzfoni, Itai
Chayo, Jennifer
Shaked, Meital
Bernstein, Ezra
Dekel, Roy
Arber, Nadir
Shapira, Shiran
Pancreatic cancer in bloom syndrome
title Pancreatic cancer in bloom syndrome
title_full Pancreatic cancer in bloom syndrome
title_fullStr Pancreatic cancer in bloom syndrome
title_full_unstemmed Pancreatic cancer in bloom syndrome
title_short Pancreatic cancer in bloom syndrome
title_sort pancreatic cancer in bloom syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552343/
https://www.ncbi.nlm.nih.gov/pubmed/31210938
http://dx.doi.org/10.1177/2050313X19855587
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