Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases

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 gen...

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Bibliographic Details
Published in:Familial cancer 2017, Vol.16 (1), p.153-157
Main Authors: Hamadou, Walid Sabri, Besbes, Sawsen, Bourdon, Violaine, Youssef, Yosra Ben, Laatiri, Mohamed Adnène, Noguchi, Testsuro, Khélif, Abderrahim, Sobol, Hagay, Soua, Zohra
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Cancer Research
DNA Mutational Analysis
Epidemiology
Hematologic Neoplasms - genetics
Human Genetics
Humans
Leukemia - genetics
Mutation
Original Article
Pedigree
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics
Tumor Suppressor Protein p53 - genetics
Tunisia
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Summary: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.
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-016-9931-3