Miresmaeili Seyed Mohsen, Jafari Fatemeh
Department of Biology, Science and Arts University, Yazd, Iran. Email:
Asian Pac J Cancer Prev. 2019 Feb 26;20(2):611-614. doi: 10.31557/APJCP.2019.20.2.611.
Background: Breast cancer is the most common cancer diagnosed among women, Tumor suppressor genes such as BRCA1 involved in cell cycle control and repairing of DNA damage. BRCA1 is a risk factor gene that alteration in its protein cause in susceptibility to breast or ovarian cancer. Short tandem repeat (STR) polymorphism is linked to some disease. Objective: The aim of this study was screening a new mutation in patients with familial breast cancer. Materials and Methods: In this study, 200 women with breast cancer were participated. Among the patients, 40 women suffer from familial breast cancer. After DNA extraction from peripheral blood samples, Exons 16 to 23 of BRCA1 gene directly analyzed in SSCP gel electrophoresis followed by direct sequencing. Results: After direct sequencing, a new mutation was detected in intron 17 of BRCA1 gene. Three patients of one family have a germ line intronic mutation in the BRCA1 gene (IVS17-27delA). Also, this mutation in this family is linked to a haplotype of intragenic short tandem repeat (STR) in the BRCA1 gene. Conclusion: By Screening of gene mutations can be found association of mutation and incidence of disease. Also, studying the mutation in families and finding specific hereditary patterns in that family can be effective in prognosis of disease in other family members.
乳腺癌是女性中诊断出的最常见癌症。肿瘤抑制基因如BRCA1参与细胞周期控制和DNA损伤修复。BRCA1是一种风险因素基因，其蛋白质改变会导致患乳腺癌或卵巢癌的易感性。短串联重复序列（STR）多态性与某些疾病有关。目的：本研究旨在筛查家族性乳腺癌患者中的新突变。材料和方法：本研究纳入了200名乳腺癌女性患者。其中，40名女性患有家族性乳腺癌。从外周血样本中提取DNA后，对BRCA1基因的第16至23外显子进行SSCP凝胶电泳直接分析，随后进行直接测序。结果：直接测序后，在BRCA1基因的第17内含子中检测到一个新突变。一个家族的三名患者在BRCA1基因中有胚系内含子突变（IVS17 - 27delA）。此外，该家族中的这种突变与BRCA1基因内短串联重复序列（STR）的单倍型相关。结论：通过筛查基因突变可以发现突变与疾病发生率之间的关联。此外，研究家族中的突变并发现该家族特定的遗传模式对其他家族成员疾病的预后可能有效。
