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The mutation of STK11 has been regcognized to be the major cause of Peutz-Jeghers syndrome (PJS).The aim of this study was to confirm the mutation rate of gene associated with gastrointestinal malignancies,including STK11, APC,PMS1,et al. Furtherly, the investigators analyze the association of STK11 with gut microbiota.
All patients diagnosed as PJS were enrolled and accepted second generation gene sequencing with their blood specimens. Then all patients allocated into gene mutation group and no gene mutation group according to if the cases accompany with gene mutation of STK11.Also, health persons were enrolled and a case controlled study will be carried out.All patients and health persons accepted 16s rRNA sequencing with their feces specimens.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Peutz-Jeghers patients | Experimental | All Peutz-Jeghers patients meet the clinical criteria |
|
| Health persons | Placebo Comparator | Those without Peutz-Jeghers syndrome |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Second generation sequencing | Behavioral | Firstly, all Peutz-Jeghers patients accept second generation gene sequencing with their blood specimen |
|
| Measure | Description | Time Frame |
|---|---|---|
| Mutation of gene associated with Peutz-Jeghers syndrome | Mutation of gene associated with Peutz-Jeghers syndrome, including STK11, APC,PMS1,PMS2 et al. | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Intestinal microbiota of patients with PJS | Identify the variation of intestinal microbiota of patients with PJS | 1year |
| Measure | Description | Time Frame |
|---|---|---|
| The association of STK11 with intestinal microbiota of patients with PJS | The association of STK11 with intestinal microbiota of patients with PJS | 1 year |
Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Yuxin Wang, Ph.D. | Contact | 86-18721819083 | 18721819083@163.com |
| Name | Affiliation | Role |
|---|---|---|
| Yiqi Du, Ph.D. | Changhai Hospital | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Changhai Hospital | Recruiting | Shanghai | 200433 | China |
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| ID | Term |
|---|---|
| D010580 | Peutz-Jeghers Syndrome |
| ID | Term |
|---|---|
| D009386 | Neoplastic Syndromes, Hereditary |
| D009369 | Neoplasms |
| D044483 | Intestinal Polyposis |
| D007410 | Intestinal Diseases |
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All patients with Peutz-Jeghers were enrolled and accepted second generation gene sequencing. Then all patients allocated into gene mutation group and no gene mutation group according to if the cases accompany with gene mutation of STK11.
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| 16s rRNA gene sequencing | Behavioral | Secondly, All patients and Health persons accepted 16s rRNA gene sequencing with their feces specimen |
|
| D005767 |
| Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007911 | Lentigo |
| D008548 | Melanosis |
| D017495 | Hyperpigmentation |
| D010859 | Pigmentation Disorders |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |