Henrikson Nora B, Webber Elizabeth M, Goddard Katrina A, Scrol Aaron, Piper Margaret, Williams Marc S, Zallen Doris T, Calonge Ned, Ganiats Theodore G, Janssens A Cecile J W, Zauber Ann, Lansdorp-Vogelaar Iris, van Ballegooijen Marjolein, Whitlock Evelyn P
Group Health Research Institute, Seattle, Washington, USA.
Kaiser Permanente Center for Health Research, Portland, Oregon, USA.
Genet Med. 2015 Sep;17(9):702-12. doi: 10.1038/gim.2014.188. Epub 2015 Jan 15.
Family history of colorectal cancer (CRC) is a known risk factor for CRC and encompasses both genetic and shared environmental risks.
We conducted a systematic review to estimate the impact of family history on the natural history of CRC and adherence to screening.
We found high heterogeneity in family-history definitions, the most common definition being one or more first-degree relatives. The prevalence of family history may be lower than the commonly cited 10%, and confirms evidence for increasing levels of risk associated with increasing family-history burden. There is evidence for higher prevalence of adenomas and of multiple adenomas in people with family history of CRC but no evidence for differential adenoma location or adenoma progression by family history. Limited data regarding the natural history of CRC by family history suggest a differential age or stage at cancer diagnosis and mixed evidence with respect to tumor location. Adherence to recommended colonoscopy screening was higher in people with a family history of CRC.
Stratification based on polygenic and/or multifactorial risk assessment may mature to the point of displacing family history-based approaches, but for the foreseeable future, family history may remain a valuable clinical tool for identifying individuals at increased risk for CRC.
结直肠癌(CRC)家族史是已知的CRC风险因素,包括遗传风险和共同的环境风险。
我们进行了一项系统评价,以评估家族史对CRC自然史和筛查依从性的影响。
我们发现家族史定义存在高度异质性,最常见的定义是一个或多个一级亲属。家族史的患病率可能低于通常引用的10%,并证实了随着家族史负担增加风险水平也增加的证据。有证据表明,CRC家族史患者腺瘤和多发性腺瘤的患病率更高,但没有证据表明家族史会导致腺瘤位置或腺瘤进展存在差异。关于CRC家族史自然史的有限数据表明,癌症诊断时的年龄或阶段存在差异,且肿瘤位置的证据不一。CRC家族史患者对推荐的结肠镜筛查的依从性更高。
基于多基因和/或多因素风险评估的分层可能会发展到取代基于家族史的方法,但在可预见的未来,家族史可能仍然是识别CRC风险增加个体的有价值的临床工具。