AI Article Synopsis
- The study investigates the genetic basis of familial hematological malignancies, focusing on the ARLTS1 gene, which has been linked to sporadic cancers.
- Researchers sequenced the ARLTS1 gene in 100 patients from 88 families in Tunisia and France, uncovering 8 genetic variations.
- Key findings show that variations like W149X and C148R are associated with increased risks for cancers, suggesting that ARLTS1 mutations could be important risk factors for familial hematological malignancies and related cancers.
Article Abstract
Introduction: Genetic predisposition to familial hematological malignancies was previously described through several epidemiological analyses, but the genetic basis remains unclear. The tumor-suppressor ARLTS1 gene was previously described in sporadic hematological malignancies and familial cancer context.
Methods: In this study, we sequence the ARLTS1 gene in 100 patients belonging to 88 independent Tunisian and French families.
Results: After gene sequencing, we report 8 genetic variations, most of which were previously reported in several cancer forms. The most common variants were W149X and C148R and were previously associated to B-cell chronic lymphocytic leukemia and to high-risk of familial breast cancer.
Conclusions: These results emphasize the fact that ARLTS1 gene mutations can be considered as a potential predisposing factor in familial hematological malignancies and other several cancer forms.
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| http://dx.doi.org/10.1016/j.bulcan.2016.10.016 | DOI Listing |
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