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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Genetic analysis of patient with early-onset breast cancer | Experimental | Sequencing of 200 selected genes in patient with early-onset breast cancer without genomic alterations of BRCA1, BRCA2 or TP53 |
|
| Genetic analysis of patient with early-onset ovarian cancer | Experimental | Sequencing of 200 selected genes in patient with early-onset ovarian cancer without genomic alterations of BRCA1, BRCA2 |
|
| Genetic analysis of patient with pediatric cancer | Experimental | Sequencing of 200 selected genes in patient with pediatric cancer without genomic alteration of TP53 |
|
| Genetic analysis of patient with early-onset colorectal cancer | Experimental | 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 |
|
| Genetic analysis of patient with multiple primary tumors | Experimental |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic analysis | Genetic | Sequencing of 200 selected genes in the different study populations |
|
| Measure | Description | Time Frame |
|---|---|---|
| Frequency of germline deleterious mutations | Frequency of germline deleterious mutations will be assessed for the 200 selected genes using next generation sequencing method | Day 1 |
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Inclusion Criteria :
For patient with early-onset breast cancer :
For patient with early-onset ovarian cancer :
Patient with early-onset colorectal cancer :
Patient with pediatric cancer :
Patient with Multiple primary malignant tumours :
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Thierry FREBOURG, Pr | University Hospital, Rouen | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Rouen University Hospital | Rouen | 76031 | France |
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Sequencing of 200 selected genes in patient with Multiple primary malignant tumors without syndromic presentation
|
| ID | Term |
|---|---|
| D001943 | Breast Neoplasms |
| D010051 | Ovarian Neoplasms |
| D015179 | Colorectal Neoplasms |
| ID | Term |
|---|---|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D004701 | Endocrine Gland Neoplasms |
| D010049 | Ovarian Diseases |
| D000291 | Adnexal Diseases |
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D005833 | Genital Neoplasms, Female |
| D014565 | Urogenital Neoplasms |
| D000091662 | Genital Diseases |
| D004700 | Endocrine System Diseases |
| D006058 | Gonadal Disorders |
| D007414 | Intestinal Neoplasms |
| D005770 | Gastrointestinal Neoplasms |
| D004067 | Digestive System Neoplasms |
| D004066 | Digestive System Diseases |
| D005767 | Gastrointestinal Diseases |
| D003108 | Colonic Diseases |
| D007410 | Intestinal Diseases |
| D012002 | Rectal Diseases |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |
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