Walid Sabri Hamadou1, Sawsen Besbes2, Rahma Mani2, Violaine Bourdon3, Yosra Ben Youssef4, Béchir Achour5, Haifa Regaieg5, François Eisinger6, Véronique Mari7, Paul Gesta8, Hélène Dreyfus9, Valérie Bonadona10, Catherine Dugast11, Hélène Zattara12, Laurence Faivre13, Testsuro Noguchi3, Abderrahim Khélif4, Hagay Sobol3, Zohra Soua2. 1. Université de Sousse, faculté de médecine de Sousse, laboratoire de Biochimie, UR « biologie moléculaire des leucémies et lymphomes », avenue Mohamed Karoui, 4000 Sousse, Tunisia. Electronic address: walid_sabrimail@yahoo.fr. 2. Université de Sousse, faculté de médecine de Sousse, laboratoire de Biochimie, UR « biologie moléculaire des leucémies et lymphomes », avenue Mohamed Karoui, 4000 Sousse, Tunisia. 3. Institut Paoli-Calmettes, département d'oncologie génétique, de prévention et dépistage, 232, boulevard de Sainte-Marguerite, 13009 Marseille, France. 4. Université de Sousse, faculté de médecine de Sousse, laboratoire de Biochimie, UR « biologie moléculaire des leucémies et lymphomes », avenue Mohamed Karoui, 4000 Sousse, Tunisia; Service d'hématologie clinique, CHU Farhat Hached, Sousse, Tunisia. 5. Service d'hématologie clinique, CHU Farhat Hached, Sousse, Tunisia. 6. Institut Paoli-Calmettes, centre de lutte contre le cancer, département d'anticipation et de suivi du cancer, 232, boulevard de Sainte-Marguerite, 13009 Marseille, France. 7. Centre de lutte contre le cancer, centre Antoine-Lacassagne, service d'oncologie génétique, 33, avenue de Valombrose, 06100 Nice, France. 8. Centre hospitalier Georges-Renon, service oncogénétique pour la consultation oncogénétique régionale Poitou-Charentes, 79021 Niort, France. 9. Institut Sainte-Catherine, 250, chemin de Baigne-Pieds, 84918 Avignon cedex 9, France. 10. Centre Léon-Bérard, unité de génétique épidémiologique, 28, prom. Léa-et-Napoléon-Bullukian, 69008 Lyon, France. 11. Centre Eugène-Marquis, avenue de la Bataille-Flandres-Dunkerque, 35000 Rennes, France. 12. Hôpital de la Timone, département de génétique, 264, rue Saint-Pierre, 13385 Marseille, France. 13. CHU de Dijon, hôpital d'Enfants, 14, rue Paul-Gaffarel, 21079 Dijon, France.
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.
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.