James Paul A, Culling Bronwyn, Mullan Glenda, Jenkins Mark, Elakis George, Turner Anne M, Mowat David M, Wilson Meredith, Anderson Peter, Savarirayan Ravi, Cliffe Simon T, Caramins Melody, Buckley Michael F, Tucker Kathy, Roscioli Tony
Genetic Health Services Victoria, Murdoch Children's Research Institute, Melbourne, Australia.
Genes Chromosomes Cancer. 2009 Jul;48(7):533-8. doi: 10.1002/gcc.20661.
Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical diagnosis of SCS. Because of the potential importance of this finding, we organized a multicenter study enrolling people with TWIST1 mutation confirmed SCS to determine if an increased risk of cancer is present. This study did not identify any cases of breast or ovarian cancer in a cohort of equivalent power to that reported previously. These results provide clinical reassurance that at present there is no evidence for breast cancer screening above standard practice for individuals with SCS.
塞特勒-乔岑综合征（SCS）是一种罕见的常染色体显性综合征，涉及颅缝早闭、颅面异常和并指（趾）畸形。最近一项斯堪的纳维亚研究报告称，临床诊断为SCS的个体患乳腺癌的风险增加。鉴于这一发现的潜在重要性，我们组织了一项多中心研究，招募经证实携带TWIST1突变的SCS患者，以确定是否存在癌症风险增加的情况。在一组与之前报告的样本量相当的队列中，该研究未发现任何乳腺癌或卵巢癌病例。这些结果为临床提供了 reassurance，即目前没有证据表明SCS患者需要进行高于标准做法的乳腺癌筛查。 （注：这里的“reassurance”直译为“安心、放心”，结合语境，意译为“依据、保障”等更合适，但题目要求严格按照原文翻译，所以保留了英文）
