غربالگری P53 در شجره نامه های واجد سرطان پستان در ایران

Title

screening of p53 in pedigrees with breast cancer in Iran

English Abstract

Introduction: The major targeting projects in cancer genetic epidemiology is provide a linkage between the genetics study and clinics. Brain, could be considered as an attack point of metastasis after the occurrence of certain cancers, and also could reflect the primary cell behavior in probands, either with non-malignant tumors, or cancer. The dysfunction of P53 gene, is usually considered as a later event. It's roles include the variety of functions, and is considered as a master gene. P53 mutation carriers have reduced survival which is less common in pediatrics patients than adults. The main aim of present study was to investigate the molecular genetics alteration of P53 and study the cancer-clustering in brain-patients' pedigrees. Materials and Methods: Fifty probands with brain cancer (PBC), and 17 patients as non-proband BC (Age: 5-70Y, mean: 43), were genetically investigated. The screening of P53 (exons 4-8) was performed on the basis of PCR-SSCP, and the shift was observed, the sequencing by ALFs was performed. Results and Conclusions: 1. PBC: the parental consanguinity was 16%, the family history (FH) was found in 28% (14/50) who were mostly 2nd degree relatives (42.8%: 6/14), and the involvement of neural system revealed to be as the most common cancer (14%: 2/14). 2. Non-PBC: the FH of brain tumors was recorded in 82.3% (14/17), which mostly affected the 1st degree relatives (57: 8/14). Five pedigrees had 89 cancer cases and 32.5% (29/89) had brain tumors in their pedigrees. P53 gene polymorphisms was found to be 64.7% (11/17) for exon 4 with hetero-G213C>Arg72Pro and 11.8% (2/17) for exon 6 with hetero-A639G>Arg213. It is concluded that a proper research management could lead us to draw the more precise genetics alterations in pedigrees with brain tumor patients, in order to plan the most effective strategy for patients and their relative. These provide a preventive task.

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