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基于人群的家族性结直肠癌研究方法评估

Evaluation of a population-based approach to familial colorectal cancer.

作者信息

Parfrey P S, Dicks E, Parfrey O, McNicholas P J, Noseworthy H, Woods M O, Negriin C, Green J

机构信息

The Clinical Epidemiology Unit, Memorial University, St Johns, Newfoundland, Canada.

Discipline of Genetics, Health Sciences Centre, Memorial University, St Johns, Newfoundland, Canada.

出版信息

Clin Genet. 2017 May;91(5):672-682. doi: 10.1111/cge.12877. Epub 2017 Mar 8.

Abstract

As Newfoundland has the highest rate of familial colorectal cancer (CRC) in the world, we started a population-based clinic to provide colonoscopic and Lynch syndrome (LS) screening recommendations to families of CRC patients based on family risk. Of 1091 incident patients 51% provided a family history. Seventy-two percent of families were at low or intermediate-low risk of CRC and colonoscopic screening recommendations were provided by letter. Twenty-eight percent were at high and intermediate-high risk and were referred to the genetic counsellor, but only 30% (N = 48) were interviewed by study end. Colonoscopy was recommended more frequently than every 5 years in 35% of families. Lower family risk was associated with older age of proband but the frequency of screening colonoscopy recommendations varied across all age groups, driven by variability in family history. Twenty-four percent had a high MMR predict score for a Lynch syndrome mutation, and 23% fulfilled the Provincial Program criteria for LS screening. A population-based approach in the provision of colonoscopic screening recommendations to families at risk of CRC was limited by the relatively low response rate. A family history first approach to the identification of LS families was inefficient.

摘要

由于纽芬兰拥有世界上最高的家族性结直肠癌(CRC)发病率,我们开办了一家基于人群的诊所,根据家族风险为CRC患者的家属提供结肠镜检查和林奇综合征(LS)筛查建议。在1091名新确诊患者中,51%提供了家族病史。72%的家族患CRC的风险为低或中低风险,通过信函提供结肠镜检查建议。28%的家族患CRC的风险为高或中高风险,被转介给遗传咨询师,但到研究结束时,只有30%(N = 48)接受了访谈。在35%的家族中,建议结肠镜检查的频率高于每5年一次。家族风险较低与先证者年龄较大有关,但由于家族病史的差异,所有年龄组的筛查结肠镜检查建议频率各不相同。24%的患者MMR预测林奇综合征突变评分较高,23%符合省级LS筛查计划标准。为有CRC风险的家族提供结肠镜检查建议的基于人群的方法受到相对较低的回应率的限制。采用先了解家族病史的方法来识别LS家族效率低下。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4533/5413826/516ff7a4982a/CGE-91-672-g002.jpg

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