Ersig Anne L, Williams Janet K, Hadley Donald W, Koehly Laura M
Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health Bethesda, Maryland, USA.
Genet Med. 2009 Oct;11(10):728-34. doi: 10.1097/GIM.0b013e3181b3f42d.
Known and suspected mutation carriers for hereditary nonpolyposis colorectal cancer are advised to have colonoscopies every 1 to 2 years to detect colorectal cancer. Little is known about colonoscopy completion in families suspected of having hereditary nonpolyposis colorectal cancer but without identified mutations.
This study examined the effect of communication and encouragement on colonoscopy in families with and without known mutations. Twenty-three respondents from 11 families with indeterminate genetic test results were matched with 23 respondents from 11 families with mutation-positive results. Hierarchical modeling examined the effects of relational characteristics on time since last colonoscopy in index cases and their first-degree relatives.
Nearly one fifth of respondents were not screening appropriately. Time since last screening did not differ according to family mutation status. However, respondents who communicated about risk and received encouragement to screen from a greater proportion of named family members, and those who had a greater proportion of named family members involved in both communication and encouragement were significantly more likely to have a shorter time interval since last colonoscopy.
Identifying patterns of interaction within at-risk families, regardless of gene mutation status, may be one avenue for promoting screening adherence.
遗传性非息肉病性结直肠癌已知及疑似突变携带者建议每1至2年进行一次结肠镜检查以检测结直肠癌。对于疑似患有遗传性非息肉病性结直肠癌但未发现突变的家族，结肠镜检查的完成情况知之甚少。
本研究考察了沟通和鼓励对有已知突变和无已知突变家族结肠镜检查的影响。来自11个基因检测结果不确定家族的23名受访者与来自11个突变阳性家族的23名受访者进行匹配。分层模型考察了关系特征对索引病例及其一级亲属自上次结肠镜检查以来的时间的影响。
近五分之一的受访者筛查不当。自上次筛查以来的时间根据家族突变状态并无差异。然而，与有更多指定家庭成员就风险进行沟通并受到筛查鼓励的受访者，以及有更大比例指定家庭成员参与沟通和鼓励的受访者，自上次结肠镜检查以来的时间间隔显著更短的可能性更大。
识别高危家族中的互动模式，无论基因突变状态如何，可能是促进筛查依从性的一条途径。
