西澳黑色素瘤健康研究：研究设计和参与者特征。

The Western Australian Melanoma Health Study: study design and participant characteristics.

机构信息

Centre for Genetic Epidemiology and Biostatistics, The University of Western Australia, M409, 35 Stirling Highway, Crawley, 6009 Western Australia, Australia.

出版信息

Cancer Epidemiol. 2011 Oct;35(5):423-31. doi: 10.1016/j.canep.2011.02.010. Epub 2011 Apr 6.

DOI:10.1016/j.canep.2011.02.010

PMID:21474410

Abstract

BACKGROUND

Cutaneous malignant melanoma is a major public health issue in Australia and other nations. A greater understanding of the genetic determinants and their interactions with environmental factors may lead to better interventions and control of the disease. The Western Australian Melanoma Health Study (WAMHS) is a population-based case-collection and biospecimen resource established to investigate the genetic epidemiology of melanoma. This manuscript discusses the design of the WAMHS and the characteristics of the participants.

METHODS

Participants were recruited through the Western Australian Cancer Registry, which is notified of all incident cancers in the state of Western Australia by law. Once the diagnosing doctor's consent was obtained, all eligible, resident Western Australian, adult cases of melanoma diagnosed between January 2006 and September 2009, were contacted by mail and invited to participate. Clinical, questionnaire-based phenotypic and blood samples for extraction of DNA, RNA and serum were collected from consenting cases. Clinical data consisted of all pathological data recorded by the cancer registry and the questionnaire, administered by telephone interview, covered major risk factors for melanoma, such as sun exposure history and skin type.

RESULTS

The final sample consisted of 1643 consenting cases out of 3420 cancer notifications (48.04%), of which 1455 cases completed one or more components of the study and 1157 completed all components. The WAMHS sample differed to all melanoma notifications only in age, with a bias towards older individuals (P<0.0001). No significant differences were observed in sex, melanoma site, Breslow thickness or Clark's level.

CONCLUSIONS

The WAMHS study is novel in its non-family based approach and focus on common (low penetrance) genetic determinants. This comprehensive resource will enable further steps to be taken towards understanding the complex pathways involved in melanoma.

摘要

背景

皮肤恶性黑色素瘤是澳大利亚和其他国家的一个主要公共卫生问题。更好地了解遗传决定因素及其与环境因素的相互作用，可能会导致更好的干预和控制疾病。西澳大利亚黑色素瘤健康研究（WAMHS）是一个基于人群的病例收集和生物标本资源，旨在研究黑色素瘤的遗传流行病学。本文讨论了 WAMHS 的设计和参与者的特征。

方法

通过西澳大利亚癌症登记处招募参与者，该登记处依法向该州报告所有新发癌症。一旦获得诊断医生的同意，就通过邮件联系所有符合条件的、居住在西澳大利亚的、2006 年 1 月至 2009 年 9 月期间诊断为黑色素瘤的成年病例，并邀请他们参加。从同意的病例中收集临床、基于问卷的表型和血液样本，用于提取 DNA、RNA 和血清。临床数据包括癌症登记处记录的所有病理数据和通过电话访谈管理的问卷，涵盖了黑色素瘤的主要危险因素，如阳光暴露史和皮肤类型。

结果

最终样本由 3420 例癌症通知中的 1643 例同意病例组成（48.04%），其中 1455 例完成了研究的一个或多个部分，1157 例完成了所有部分。WAMHS 样本仅在年龄上与所有黑色素瘤通知有所不同，偏向于老年人（P<0.0001）。在性别、黑色素瘤部位、Breslow 厚度或 Clark 级别方面没有观察到显著差异。