School of Biomedical Sciences and Pharmacy, University of Newcastle, Newcastle, Australia.
Fam Cancer. 2013 Jun;12(2):207-16. doi: 10.1007/s10689-013-9614-2.
The report by Aldred Scott Warthin in 1913 of a cancer family history and expanded on by Henry T. Lynch demonstrated one of the most enduring traits observed in patients with Lynch syndrome. The recognition of a variety of malignancies occurring at differing ages within a single family suggested the role of genetic variance on disease expression in an autosomal dominantly inherited genetic condition. With the identification of the genetic basis of Lynch syndrome and the subsequent collection of families and their medical records it has become possible to identify subtle genetic effects that influence the age at which disease onset occurs in this cancer predisposition. Knowledge about genetic modifiers influencing disease expression has the potential to be used to personalise prophylactic screening measures to maximise the benefits for family members and their carers.
1913 年，Aldred Scott Warthin 报告了一个癌症家族史，并由 Henry T. Lynch 扩展，这证明了 Lynch 综合征患者观察到的最持久特征之一。在一个家族中不同年龄发生的多种恶性肿瘤的认识表明，遗传变异在常染色体显性遗传疾病中的疾病表现中起作用。随着 Lynch 综合征遗传基础的确定，以及随后对家族及其病历的收集，已经有可能确定影响这种癌症易感性疾病发病年龄的细微遗传影响。关于影响疾病表达的遗传修饰剂的知识有可能被用于个性化预防筛查措施，以使家庭成员及其照顾者最大程度受益。
