家族性肾癌遗传学研究进展。
Advances in the genetics of familial renal cancer.
机构信息
Regional Medical Genetics Centre, Belfast City Hospital HSC Trust, Belfast, BT9 7AB, UK.
出版信息
Oncologist. 2010;15(6):532-8. doi: 10.1634/theoncologist.2010-0023. Epub 2010 May 19.
Abstract
We discuss recent advances in the diagnosis and management of renal cell cancer (RCC) given the enhanced molecular genetics knowledge in this area. A number of hereditary renal cancer syndromes have been described, including von Hippel-Lindau disease, Birt-Hogg-Dubé syndrome, hereditary leiomyomatosis/RCC syndrome, and hereditary papillary renal cancer. Early molecular diagnosis now facilitates the management and prevention of RCC in families. Recommendations for screening in families are discussed.
摘要
我们讨论了在这个领域增强的分子遗传学知识背景下，肾细胞癌（RCC）的诊断和治疗的最新进展。已经描述了许多遗传性肾癌综合征，包括 von Hippel-Lindau 病、Birt-Hogg-Dubé 综合征、遗传性平滑肌瘤/肾细胞癌综合征和遗传性乳头状肾癌。早期的分子诊断现在有助于管理和预防家族性 RCC。讨论了家族筛查的建议。
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