غربالگری P53 در شجره نامه های واجد سرطان پستان در ایران

قدسی, محمد and نصری, ن and حسینی اصل, سید سعید and شهبازی, شیرین and اخوان, هما and محبی, محمدرضا and مهدی پور, پروین (1382) غربالگری P53 در شجره نامه های واجد سرطان پستان در ایران. در: The First International Congress Cancer Genetics, 13-16 Dec, 2003, Iran, Tehran.



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.

Item Type:Conference or Workshop Item (Speech)
زبان سند : انگلیسی
نویسنده اول :محمد قدسی
نویسنده :ن نصری
نویسنده :سید سعید حسینی اصل
نویسنده :شیرین شهبازی
نویسنده :هما اخوان
نویسنده :محمدرضا محبی
نویسنده مسئول :پروین مهدی پور
کلیدواژه ها (انگلیسی):breast cancer , genetic , Iran
Subjects:QY Clinical Pathology
Divisions:Faculty of Medicine > Department of Basic Sciences > Department of Genetics
ID Code:4415
Deposited By: Dr S Saied Hosseini-Asl
Deposited On:13 May 1392 08:43
Last Modified:01 Dec 1402 14:13

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