ARLTS1, potential candidate gene in familial aggregation of hematological malignancies

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• 作者：Walid Sabri Hamadou¹ ; ^{walid_sabrimail@yahoo.fr} ; Sawsen Besbes¹ ; Rahma Mani¹ ; Violaine Bourdon² ; Yosra Ben Youssef¹ ; ³ ; B&eacute ; chir Achour³ ; Haifa Regaieg³ ; Franç ; ois Eisinger⁴ ; V&eacute ; ronique Mari⁵ ; Paul Gesta⁶ ; H&eacute ; lè ; ne Dreyfus⁷ ; Val&eacute ; rie Bonadona⁸ ; Catherine Dugast⁹ ; H&eacute ; lè ; ne Zattara¹⁰ ; Laurence Faivre¹¹ ; Testsuro Noguchi² ; Abderrahim Kh&eacute ; lif¹ ; ³ ; Hagay Sobol² ; Zohra Soua¹
• 关键词：ARLTS1 ; Familial hematological malignancy ; Solid tumors
• 刊名：Bulletin du Cancer
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：104
• 期：2
• 页码：123-127
• 全文大小：711 K
• 卷排序：104

文摘

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.MethodsIn this study, we sequence the ARLTS1 gene in 100 patients belonging to 88 independent Tunisian and French families.ResultsAfter 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.ConclusionsThese 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.