Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- 入组人数
- 289
- 试验地点
- 2
- 主要终点
- Frequency of germline deleterious mutations
研究概览
简要总结
Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non contributive. As somatic cancer genes are limited, the hypothesis is that the targeted next-generation sequencing of 200 genes, selected for their implications in cancers may contribute to the understanding of many selected patients' presentation by the identification of germline deleterious mutations, and may identified phenotype overlapping and/or mosaicisms. The focus will be put on early-onset breast, ovarian, colorectal cancer or pediatric cancers and multiple primary tumors.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Older than 18 or parental agreement in case of children.
- •For patient with early-onset breast cancer :
- •Invasive breast cancer, regardless of histological type or stage, diagnosed before 31 years.
- •Sporadic or familial presentation
- •No genomic alterations of BRCA1, BRCA2 or TP53
- •For patient with early-onset ovarian cancer :
- •Invasive ovarian cancer, regardless of histological type or stage, diagnosed before 41 years.
- •Sporadic or familial presentation
- •No genomic alterations of BRCA1, BRCA2
- •Patient with early-onset colorectal cancer :
- •Invasive colorectal cancer diagnosed before 31 years.
- •Sporadic or familial presentation
- •No genomic alteration of MSH2, MLH1 or MSH6 in case of HNPCC presentation
- •No genomic alteration of APC, MUTYH, SMAD4, BMPR1A, PTEN or STK11 in case of adenomatous polyposis or hamartoma presentation
- •Patient with pediatric cancer :
- •Non haematological tumour diagnosed before 16 years, with Li-Fraumeni presentation.
- •No genomic alteration of TP53
- •Patient with Multiple primary malignant tumours :
- •Multiple synchronous or metachronous primary malignant tumors with early-onset
- •No syndromic presentation
排除标准
- •Any already known deleterious mutations according to the patient's phenotype
研究组 & 干预措施
Genetic analysis of patient with early-onset breast cancer
Sequencing of 200 selected genes in patient with early-onset breast cancer without genomic alterations of BRCA1, BRCA2 or TP53
干预措施: Genetic analysis (Genetic)
Genetic analysis of patient with early-onset ovarian cancer
Sequencing of 200 selected genes in patient with early-onset ovarian cancer without genomic alterations of BRCA1, BRCA2
干预措施: Genetic analysis (Genetic)
Genetic analysis of patient with pediatric cancer
Sequencing of 200 selected genes in patient with pediatric cancer without genomic alteration of TP53
干预措施: Genetic analysis (Genetic)
Genetic analysis of patient with early-onset colorectal cancer
Sequencing of 200 selected genes in patient with early-onset colorectal cancer without genomic alteration of APC, MUTYH, SMAD4, BMPR1A, PTEN or STK11 in case of adenomatous polyposis or hamartoma presentation or without genomic alteration of MSH2, MLH1 or MSH6 in case of HNPCC presentation
干预措施: Genetic analysis (Genetic)
Genetic analysis of patient with multiple primary tumors
Sequencing of 200 selected genes in patient with Multiple primary malignant tumors without syndromic presentation
干预措施: Genetic analysis (Genetic)
结局指标
主要结局
Frequency of germline deleterious mutations
时间窗: Day 1
Frequency of germline deleterious mutations will be assessed for the 200 selected genes using next generation sequencing method
次要结局
未报告次要终点