Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases
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- 作者：Walid Sabri Hamadou ; Sawsen Besbes ; Violaine Bourdon ; Yosra Ben Youssef…
- 关键词：TP53 gene mutations ; Familial hematological malignancies ; Acute lymphoblastic leukemia ; Acute myeloid leukemia
- 刊名：Familial Cancer
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：16
- 期：1
- 页码：153-157
- 全文大小：
- 刊物类别：Medicine
- 刊物主题：Cancer Research; Human Genetics; Epidemiology; Biomedicine, general;
- 出版者：Springer Netherlands
- ISSN：1573-7292
- 卷排序：16
文摘
Mutations are responsible for familial cancer syndromes which account for approximately 5–10 % of all types of cancers. Familial cancers are often caused by genetic alterations occurring either in tumor suppressor or genomic stability genes such as TP53. In this study, we have analyzed the TP53 gene by direct sequencing approach, in a panel of 18 Tunisian familial hematological malignancies cases including several forms of leukemia, lymphoma and myeloid syndrome and 22 cases of sporadic acute leukemia. In one familial case diagnosed with acute lymphoblastic leukemia, we reported an intronic substitution 559+1 G>A which may disrupt the splice site and impact the normal protein function. Most of the deleterious mutations (Arg158His; Pro282Trp; Thr312Ser) as classified by IARC data base, were commonly reported in ALL cases studied here. The cosegregation of the two variants rs1042522 and rs1642785 was observed in most patients which may be in favor of the presence of linkage disequilibrium. The most defined TP53 mutations found here were identified in acute lymphoblastic leukemia context whereas only 3 % of mutations have been in previous studies. The cosegregation of the two recurrent variant rs1042522 and rs1642785 should be further confirmed.