Familial lung cancer - Genetic susceptibility and relationship to chronic obstructive pulmonary disease
Familial lung cancer - Genetic susceptibility and relationship to chronic obstructive pulmonary disease
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DOI：
10.1164/rccm.200502-235pp
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发表时间：
2006-01-01
影响因子：
24.7
通讯作者：
Ruckdeschel, JC
中科院分区：
文献类型：
--
作者：
Schwartz, AG;Ruckdeschel, JC
肺癌仍然是癌症死亡的主要原因，尽管大多数肺癌可归因于吸烟，但研究表明家族聚集性表明潜在的遗传易感性。肺癌的第一个家族连锁研究已经确定了家族中肺癌、喉癌和咽癌与染色体6 q23 -25上的一个区域的连锁。由于肺癌和慢性阻塞性肺疾病（COPD）是已知的聚集在家庭以外的共享风险与吸烟，连锁结果进行了比较和对比，从全基因组连锁和关联研究和候选基因研究的结果寻找肺癌，肺功能，和COPD。染色体6 q与肺癌和肺功能的连锁，以及12与肺癌，COPD和肺功能的连锁，以及这些结果的候选基因的重叠，表明未来对肺部疾病潜在遗传机制的研究将受益于扩大家族史数据的收集和更好地定义“高危”人群。随着肺部疾病的家族风险得到更好的定义，转诊到筛查项目和预防试验可以更好地针对有肺癌和COPD病史的家庭。
Lung cancer continues to be the leading cause of cancer death, and although most lung cancer is attributable to cigarette smoking, underlying genetic susceptibility is suggested by studies demonstrating familial aggregation. The first family linkage study of lung cancer has identified linkage of lung, laryngeal, and pharyngeal cancer in families to a region on chromosome 6q23-25. Because lung cancer and chronic obstructive pulmonary disease (COPD) are known to aggregate in families beyond shared risk associated with smoking, the linkage results are compared and contrasted with results from genomewide linkage and association studies and candidate gene studies searching for genes for lung cancer, lung function, and COPD. Linkage on chromosome 6q to both lung cancer and lung function, and on 12 to lung cancer, COPD, and lung function, together with overlap in candidate genes for these outcomes, suggests that future research into underlying genetic mechanisms of lung disease would benefit from broadening the collection of family history data and better defining the "high risk" population. As familial risk of lung disease is better defined, referral into screening programs and prevention trials can be better targeted to reach families with both a history of lung cancer and COPD.