Mutation screening of the BRCA1 gene in sporadic breast cancer in the Central of Iran

被引:2
作者
Behbahani, Mandana [1 ]
Nosrati, Mokhtar [1 ]
Mohabatkar, Hassan [1 ]
机构
[1] Univ Isfahan, Fac Adv Sci & Technol, Dept Biotechnol, Esfahan, Iran
关键词
Breast cancer; SSCP; Mutation;
D O I
10.1016/j.mgene.2018.04.005
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The purpose of the work was to study mutation screening of BRCA1 in Iranian patients with sporadic breast cancer. We carried out a mutational analysis of BRCA1 gene in 101 breast cancer patients from a population in Central of Iran. The comparison of DNA of paraffin-embedded breast cancer tissue from patients was studied, and breast tissue from 30 unrelated normal women without cancer was selected as controls. The entire BRCA1 coding sequence was amplified by PCR with primers especially designed for comprehensive mutation screening by single-strand conformation polymorphism (SSCP) analysis. The PCR products revealing abnormal SSCP migration pattern were sequenced. Then, in silico investigation was performed to identify the effects of new mutations on stability and function of BRCA 1.A total of ten nucleotide alterations were observed in the breast cancer tissue DNA. Six cases of single nucleotide changes in BRCA1 were detected in the study without records in the BIC database consisted four polymorphism in exon 11 (1543 Del G, 1597C > T, 2246 Del T, 2612C > G), one missense mutation in exon 7 (490C > T), and one deletion mutation in exon 10 (743 Del C). No nucleotide alterations were detected in the controls. In addition, the results of in silico analysis indicated that three mutations including 2612C > G, 1543 Del G and 743 Del C were not recorded in the especial database. Furthermore, the results of molecular docking studies confirmed that 2612C > G could change physicochemical properties of BRCA1. The findings of the present study suggest that screened mutations may have an important role on the incidence of breast cancer in women.
引用
收藏
页码:23 / 27
页数:5
相关论文
共 29 条
[1]   FAST AND SENSITIVE SILVER STAINING OF DNA IN POLYACRYLAMIDE GELS [J].
BASSAM, BJ ;
CAETANOANOLLES, G ;
GRESSHOFF, PM .
ANALYTICAL BIOCHEMISTRY, 1991, 196 (01) :80-83
[2]   TOWARDS CLONING THE FAMILIAL BREAST OVARIAN-CANCER GENE ON CHROMOSOME-17 [J].
BROWN, MA ;
SOLOMON, E .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 1994, 4 (03) :439-445
[3]   In silico analysis of single nucleotide polymorphism (SNP) in human TNF-alpha gene [J].
Dabhi, Brijesh ;
Mistry, Kinnari N. .
META GENE, 2014, 2 :586-595
[4]   HUMAN RNA TRANSCRIPTS IN MAN-MOUSE SOMATIC-CELL HYBRIDS .2. THERMAL DENATURATION STUDIES AND COT ANALYSIS [J].
DICIOCCIO, RA ;
SINISCALCO, M .
SOMATIC CELL GENETICS, 1975, 1 (03) :263-277
[5]   Integrating In Silico Prediction Methods, Molecular Docking, and Molecular Dynamics Simulation to Predict the Impact of ALK Missense Mutations in Structural Perspective [J].
Doss, C. George Priya ;
Chakraborty, Chiranjib ;
Chen, Luonan ;
Zhu, Hailong .
BIOMED RESEARCH INTERNATIONAL, 2014, 2014
[6]   GERMLINE MUTATIONS OF THE BRCA1 GENE IN BREAST AND OVARIAN-CANCER FAMILIES PROVIDE EVIDENCE FOR A GENOTYPE-PHENOTYPE CORRELATION [J].
GAYTHER, SA ;
WARREN, W ;
MAZOYER, S ;
RUSSELL, PA ;
HARRINGTON, PA ;
CHIANO, M ;
SEAL, S ;
HAMOUDI, R ;
VANRENSBURG, EJ ;
DUNNING, AM ;
LOVE, R ;
EVANS, G ;
EASTON, D ;
CLAYTON, D ;
STRATTON, MR ;
PONDER, BAJ .
NATURE GENETICS, 1995, 11 (04) :428-433
[7]   Germline BRCA1 mutations in Iranian women with breast cancer [J].
Ghaderi, A ;
Talei, A ;
Farjadian, S ;
Mosalaei, A ;
Doroudchi, M ;
Kimura, H .
CANCER LETTERS, 2001, 165 (01) :87-94
[8]   Incidence of familial breast cancer and BRCA mutations in Iranian and Ukrainian breast cancer patients [J].
Gorovenko, N. G. ;
Podolskaya, C. V. ;
Rassi, H. ;
Houshmand, M. .
EJC SUPPLEMENTS, 2007, 5 (08) :24-24
[9]  
Hassan Mohamed M., 2016, Advances in Bioinformatics, V2016, P2632917, DOI 10.1155/2016/2632917
[10]   Analysis of TP53 gene mutations in human lung cancer:: Comparison of capillary electrophoresis single strand conformation polymorphism assay with denaturing gradient gel electrophoresis and direct sequencing [J].
Holmila, R ;
Husganel-Pursiainen, K .
CANCER DETECTION AND PREVENTION, 2006, 30 (01) :1-6