The GEOLynch Cohort Study: Genetic, Environmental and Other Factors That Influence Tumour Risk Among Persons With Lynch Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- Overall cancer diagnoses
研究概览
简要总结
The GEOLynch cohort study has been established to investigate the influence of genetic, environmental and other factors on tumour risk in persons with Lynch syndrome.
详细描述
The GEOLynch cohort study includes persons with Lynch syndrome (LS) only. Persons with LS carry an inherited mutation in one of the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 which increases their risk of several types of cancer, especially colorectal and endometrial cancer. Additionally, mutations in the EPCAM gene that result in epigenetic silencing of the MSH2 gene cause LS. Since 2006, persons with LS are invited to participate in the GEOLynch cohort study via the Netherlands Foundation for the Detection of Hereditary Tumours, the Radboud University Medical Center Nijmegen or the University Medical Centre Groningen. Moreover, persons with LS can participate in the study after contacting the researcher themselves. Participants are asked to complete a food frequency questionnaire and questionnaires about dietary supplement use, physical activity, weight, height and medication use. A buccal swab was asked of every participant recruited between 2006 and 2008. From 2012 on, newly recruited participants are asked to donate a blood sample instead of a buccal swab. Furthermore, participants who had been recruited between 2006 and 2008 were asked to complete the questionnaires again and to donate a blood sample too. Hence, follow-up measurements are available for a subset of participants. DNA has been subtracted from the buccal swabs to genotype SNPs of the IGF gene axis and polymorphisms of MTHFR C377T. Blood samples are biobanked to facilitate future analyses of biomarkers, nutrients, DNA etc. Clinical characteristics regarding performed colonoscopies and tumour diagnoses of all participants is gathered from medical records and a linkage to the nationwide network and registry of histo- and cytopathology in the Netherlands (PALGA Foundation ). Hazard ratios will be calculated to investigate the influence of genetic, environmental and other factor on tumour risk. Repeated measures analyses will be used if follow-up measurements are taken into account.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Persons with a known mutation in a gene that causes Lynch syndrome, i.e. with an inherited monoallelic pathogenic germline mutation in either the MLH1, MSH2, MSH6, PMS2 or EPCAM gene.
- •Aged between 18 and 80 years at inclusion.
排除标准
- •Additional carrier of another hereditary colon cancer predisposition syndrome (e.g. FAP)
- •(Chronic) Inflammatory bowel disease
- •Non-Dutch speaking
- •Dementia or another mental condition that makes it impossible to fill out questionnaires
- •Terminally ill persons
结局指标
主要结局
Overall cancer diagnoses
时间窗: Diagnoses before and after study inclusion will be assessed approximately every 2 years until study completion by regularly reviewing medical reports and/or pathology reports.
All diagnosed cancer types described in participants' medical reports and/or pathology reports.
Colorectal tumour diagnoses
时间窗: Diagnoses before and after study inclusion will be assessed approximately every 2 years until study completion by regularly reviewing medical reports and/or pathology reports.
All diagnosed colorectal adenomas and carcinomas described in paticipants' medical reports and/or pathology reports.
Endometrial cancer diagnoses
时间窗: Diagnoses before and after study inclusion will be assessed approximately every 2 years until study completion by regularly reviewing medical reports and/or pathology reports.
All diagnosed endometrial cancers described in participants' medical reports and/or pathology reports.
次要结局
未报告次要终点