BRCA1和BRCA2蛋白：在健康与疾病中的作用
BRCA1 and BRCA2 proteins: roles in health and disease.
作者信息
Duncan J A, Reeves J R, Cooke T G
机构信息
University Department of Surgery, Galsgow Royal Infirmary, UK.
出版信息
Mol Pathol. 1998 Oct;51(5):237-47. doi: 10.1136/mp.51.5.237.
Abstract
Between 5% and 10% of all breast cancer is hereditary, with patients having a strong family history of the disease. The remaining 90-95% of cases are classed as sporadic. Within the inherited group, 80-90% of cases are the result of germline mutations affecting two recently identified genes: BRCA1 and BRCA2. Since the sequencing of these genes, considerable research on the genetics of the mutation carriers has been performed, with less attention having been focused on the BRCA1 and BRCA2 proteins themselves. The structure and function of the protein products thus continues to hold mystery and might be the key to the full understanding of this complex disease.
摘要
在所有乳腺癌病例中，5%至10%是遗传性的，这些患者有该疾病的强烈家族病史。其余90%至95%的病例被归类为散发性。在遗传性乳腺癌群体中，80%至90%的病例是由影响两个最近发现的基因BRCA1和BRCA2的种系突变导致的。自从对这些基因进行测序以来，已经对突变携带者的遗传学进行了大量研究，而对BRCA1和BRCA2蛋白质本身的关注较少。因此，这些蛋白质产物的结构和功能仍然是个谜，可能是全面理解这种复杂疾病的关键。
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