Penetrance of BRCA1/BRCA2 specific gene mutations in Iranian women with breast cancer.
Penetrance of BRCA1/BRCA2 specific gene mutations in Iranian women with breast cancer.
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DOI：
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发表时间：
2009
影响因子：
1.6
通讯作者：
A. Hashemian;E. Hajizadeh;A. Kazemnejad;M. Atri;P. Mehdipour
中科院分区：
文献类型：
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作者：
A. Hashemian;E. Hajizadeh;A. Kazemnejad;M. Atri;P. Mehdipour
目的评估伊朗乳腺癌患者乳腺癌基因1和2 BRCA 1/BRCA 2特异性基因突变的发生率。方法：我们于2008年1月至5月在伊朗德黑兰的Tarbiat Modares大学生物统计学系进行了这项研究。信息收集自伊朗德黑兰日间综合医院癌症诊所的转诊数据库。我们基于改良的亲属队列方法估计BRCA 1/2特异性基因突变携带者的乳腺癌发病率。结果345例先证者进行BRCA 1/2基因特异性突变检测。BRCA 1/2携带者年龄组的估计患病率为31.9%（或≥ 50岁）。结论可靠的遗传咨询信息是遗传咨询的重要内容。本研究中估计的突变率值较低可能归因于伊朗患者中的罕见突变。建立和使用亲属队列基因数据库，为制定筛查方案和估计患病率提供解决方案，以帮助降低癌症风险。
OBJECTIVE To estimate the penetrance of breast cancer genes 1 and 2 BRCA1/BRCA2 specific gene mutations in Iranian women with breast cancer. METHODS We conducted this study in the Department of Biostatistics, Tarbiat Modares University, Tehran, Iran between January and May 2008. The information was collected from the referral database of the Cancer Clinics, Day General Hospital, Tehran, Iran. We estimated the penetrance of breast cancer in carriers of BRCA1/2 specific gene mutations based on the modified kin-cohort method. RESULTS Three hundred and forty-five probands were examined for specific mutations of BRCA1/2 genes. The estimated penetrance for the age groups among BRCA1/2 carriers was 31.9% ( or =50 years). CONCLUSION The reliable information of penetrance is considered important in genetic counseling. The low value of the estimated penetrance in this study might be attributed to the rare mutation in Iranian patients. Establishment and use of a kin-cohort gene databank is proposed as a solution for the preparation of the screening programs and the estimation of the penetrance to help reduce the risk of cancer.