National Cohort of Patients With Cowden's Disease and With a Constitutional Alteration of the PTEN Gene for the Prospective Assessment of the Risk of Cancer.
试验速览
- 阶段
- 不适用
- 状态
- 暂停
- 入组人数
- 430
- 试验地点
- 46
- 主要终点
- Number of subjects with a cancer event
研究概览
简要总结
This is a multicentric, observational, retrospective and prospective study, aiming to estimate the risk of cancer occurrence in subjects carrying a PTEN mutation, based on the constitution of a national cohort.
详细描述
After collection of the non objection and verification of the eligibility criteria, a first clinical questionnaire will be completed by the participant and the prescribing physician to collect the main medical events including the history of malignant tumor pathologies until the date of inclusion in the study.
Thereafter, an annual questionnaire will be sent to the participants to update the elements related to a tumor pathology.
For the case of patients who have died or been lost to follow-up, only the information from the first clinical questionnaire will be collected from the data available from the prescribing physician without informing the relatives. However, the investigating center will have to check that these patients have not objected, during their lifetime, to the use of their data.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male or female.
- •Adult or child without age limit.
- •Carrier of a constitutional or mosaic alteration of the PTEN gene established and/or confirmed by the Institut Bergonié's genetics laboratory, following a request for molecular diagnosis made between 1997 and
- •Participant informed of his genetic diagnosis.
- •Participant informed and not having expressed non-opposition to participate in the research.
- •Participant affiliated to a French social security system in accordance with French law on research involving the human person.
排除标准
- •Participant under guardianship or curatorship. Exception: a participant with autism may be included in the study.
- •Persons deprived of their liberty by a judicial or administrative decision.
- •Persons under psychiatric care, persons admitted to a health or social establishment for purposes other than research; Exception: a participant with autism may be included in the study.
结局指标
主要结局
Number of subjects with a cancer event
时间窗: From date of identification of a constitutional alteration of the PTEN gene until the date of first cancer event or date of death from any cause, whichever came first, assessed up to 20 years.
Number of subjects with a cancer event (any cancer) observed in the population of subjects presenting a constitutional alteration of the PTEN gene.
次要结局
- Number of subjects with an endometrial cancer event(From date of identification of a constitutional alteration of the PTEN gene until the date of first endometrial cancer event or date of death from any cause, whichever came first, assessed up to 20 years.)
- Number of subjects with a renal cancer event(From date of identification of a constitutional alteration of the PTEN gene until the date of first renal cancer event or date of death from any cause, whichever came first, assessed up to 20 years.)
- Number of subjects with a thyroid cancer event(From date of identification of a constitutional alteration of the PTEN gene until the date of first thyroid cancer event or date of death from any cause, whichever came first, assessed up to 20 years.)
- Number of subjects with a breast cancer event(From date of identification of a constitutional alteration of the PTEN gene until the date of first breast cancer event or date of death from any cause, whichever came first, assessed up to 20 years.)
- Number of subjects with a colorectal cancer event(From date of identification of a constitutional alteration of the PTEN gene until the date of first colorectal cancer event or date of death from any cause, whichever came first, assessed up to 20 years.)
- Number of subjects with a melanoma cancer event(From date of identification of a constitutional alteration of the PTEN gene until the date of first melanoma cancer event or date of death from any cause, whichever came first, assessed up to 20 years.)