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ARLTS1, potential candidate gene in familial aggregation of hematological malignancies
Walid Sabri Hamadou1, Sawsen Besbes1, Rahma Mani1
1Université de Sousse, faculté de médecine de Sousse, laboratoire de Biochimie, UR « biologie moléculaire des leucémies et lymphomes », avenue Mohamed Karoui, 4000 Sousse, Tunisia.
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.
