Department of Pharmacotherapy, University of Utah College of Pharmacy, Salt Lake City, USA.
BMC Cancer. 2012 Apr 3;12:138. doi: 10.1186/1471-2407-12-138.
BACKGROUND/AIMS: Sound and rigorous well-established, and newly extended, methods for genetic epidemiological analysis were used to analyze population evidence for genetic contributions to risk for numerous common cancer sites in Utah. The Utah Population Database (UPDB) has provided important illumination of the familial contribution to cancer risk by cancer site.
With over 15 years of new cancer data since the previous comprehensive familial cancer analysis, we tested for excess familial clustering using an expanded Genealogical Index of Familiality (dGIF) methodology that provides for a more informative, but conservative test for the existence of a genetic contribution to familial relatedness in cancer.
Some new cancer sites have been analyzed for the first time, having achieved sufficiently large sample size with additions to the UPDB. This new analysis has identified 6 cancer sites with significant evidence for a heritable contribution to risk, including lip, chronic lymphocytic leukemia, thyroid, lung, prostate, and melanoma.
Both environmentally and genetically-based familial clustering have clinical significance, and these results support increased surveillance for cancer of the same sites among close relatives of affected individuals for many more cancers than are typically considered.
背景/目的：采用经过充分验证的成熟方法和新扩展的方法，对犹他州多种常见癌症部位的遗传风险进行遗传流行病学分析。犹他州人口数据库（UPDB）通过癌症部位为癌症风险的家族贡献提供了重要的启示。
在之前的全面家族癌症分析之后，我们利用扩展的遗传关联指数（dGIF）方法测试了多余的家族聚集性，该方法为癌症家族相关性中遗传贡献的存在提供了更具信息量但更保守的测试。
一些新的癌症部位首次进行了分析，随着 UPDB 的增加，其样本量已足够大。这项新分析确定了 6 个具有遗传风险贡献的显著证据的癌症部位，包括唇、慢性淋巴细胞白血病、甲状腺、肺、前列腺和黑色素瘤。
环境和遗传基础的家族聚集都具有临床意义，这些结果支持在更多通常被认为的癌症之外，对受影响个体的近亲进行相同部位癌症的增加监测。
