araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Clinical Outcomes in Hereditary Cancer

Summary: Compare the clinical characteristics and post-surgical outcomes (overall survival)of pancreatic cancer patients of Ashkenazi descent with or without germline founder mutations in BRCA1 or BRCA2 .
  Compare the clinical characteristics and outcomes (time to progression) of breast cancer patients of Ashkenazi descent with or without germline founder mutations in BRCA1 or BRCA2 receiving paclitaxel chemotherapy for metastatic disease.

Detailed description: Compare the clinical characteristics and post-surgical outcomes (overall survival)of pancreatic cancer patients of Ashkenazi descent with or without germline founder mutations in BRCA1 or BRCA2 .
  Compare the clinical characteristics and outcomes (time to progression) of breast cancer patients of Ashkenazi descent with or without germline founder mutations in BRCA1 or BRCA2 receiving paclitaxel chemotherapy for metastatic disease.

Eligibility: Inclusion Criteria:
  -  Included in DB0363-03
  -  Jewish religious preference at registration
  -  Archival material available for testing
  -  Adequate post-surgical follow-up
  -  Jewish religious preference at registration
  -  Archival material available for testing
  -  Adequate follow-up to determine time to progression
  Exclusion Criteria:
  -Subjects will not be included in the analyses if a DNA sample cannot be obtained.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Chemotherapy Resistance in Osteogenic Sarcoma and Other Solid Tumors

Summary: The purpose of this study is to investigate tumors in the laboratory to determine how and why they respond, or fail to respond to different drug therapies. This study will also investigate why high pressure develops within tumors and how this affects how well drugs work. We will also take blood samples before and/or after your procedure to measure biochemical factors that may help us predict the behavior of osteogenic sarcoma and other solid tumors.

Detailed description: When tumor tissue known or presumed to be a primary or secondary bone cancer or solid tumor with known elevated intra-tumoral pressure such as retinoblastoma is being removed or has been removed for diagnostic or therapeutic reasons a small sample of it will be obtained for this study. The tumor samples will be used to study in vitro, determinants of chemotherapy resistance and oncogenesis. These determinants will be correlated with histologic response to preoperative chemotherapy and clinical outcome (event free survival). In addition, blood samples (20ml) may be obtained before or after the procedure.

Eligibility: Inclusion Criteria:
  -  All patients with a presumed or known diagnosis of a primary or secondary bone cancer or other solid tumor who are having or have had a biopsy or surgery to remove tumor for diagnostic or therapeutic reasons. No tumors will be obtained solely for research purposes.
  -  All adult patients (> or = to 18 yrs.) will have given written informed consent.
  -  All minor patients (<18 yrs.) will have given assent to the best of their ability to understand, and their parent or guardian will have given written informed consent
  Exclusion Criteria:
  -  N/A

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Anonymous Testing of Pathology Specimens for BRCA Mutations in Ashkenazi Jewish Individuals Who Have Cancer

Summary: The intent of the proposed study is to describe the prevalence of the most common recurring mutations in BRCA1 and BRCA2, blmAsh , and the A636P MSH2 mutation among Ashkenazi Jewish individuals with a variety of cancer diagnoses. If a substantial proportion of these samples contain such mutations, future patients presenting with these diseases may wish to undergo genetic counseling and, if appropriate, formal genetic testing. The benefit from such a process would pertain mainly to the families of these individuals.

Detailed description: Germline mutations in the genes BRCA1 and BRCA2 have been demonstrated in the majority of hereditary breast and ovarian cancer families. The increased risk to develop both breast and ovarian cancer associated with inheriting a BRCA1 or BRCA2 mutation has been well established. It has also been suggested that is an overrepresentation of other cancers such as colon, prostate and pancreatic cancer present in BRCA1 or BRCA2 families. Population specific mutations in BRCA1 and BRCA2 have been identified. In the Ashkenazi Jewish population, 3 specific mutations have been seen in 2% of the population. This study will anonymously screen archived tissue samples of Ashkenazi Jewish individuals diagnosed with cancer between 1993 and 1996 at MSKCC for the three founder mutations seen in the Ashkenazi Jewish population. Results will be stratified by tumor type and compared with the population frequency to determine whether individuals inheriting mutations in BRCA1 or BRCA2 may have an increased risk to develop other cancers, in addition to breast and ovarian cancer. This information will be useful in helping to identify individuals who may benefit from genetic counseling and possibly genetic testing who to date are not typically referred. It will also be useful in developing high-risk cancer screening strategies and determining appropriate options for prophylactic surgery.

Eligibility: Inclusion Criteria:
  -  Diagnosis of cancer made at MSKCC or collaborating institutions, AND
  -  Tissue block of tumor or normal margin or extracted DNA available for study and sufficient material present to allow study without exhausting block or DNA,
  -  Individual self-identified as Jewish on intake.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Register for Pediatric Patients With Antiphospholipid Syndrome (APS): European Project Extended Internationally Study

Summary: The purpose of this study is to gather information about causes and treatment of Antiphospholipid Syndrome.


Eligibility: Inclusion Criteria:
  -  18 years of age or younger at the onset of disease
  -  Presence of Vascular Thrombosis
  -  UC Davis patient
  -  Presence of at least one Laboratory criteria including: Anticardiolipin antibody, Anti-B glycoprotein-I antibody or Lupus anticoagulant in plasma
  Exclusion Criteria:
  -  Infants born to mothers with APS
  -  Infants with congenital thrombophilia

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Intestinal Protozoal Infections and Sexual Transmitted Diseases Among Targeted Cohorts

Summary: In this two-year study, we will target two high risk groups, including MSM of HIV-infected and those of non-HIV-infected. We will avail the serodiagnosis to detect the potential amebic carriers in both groups; and use microscopy to detect protozoas other than amebiasis. Meanwhile we will also survey the patients' status of sexual transmitted diseases (STD). For the amebic carriers, we will apply specific antigen and molecular biologic method to follow up the duration of the persistence of fecal amebas. We try to clarify the dynamic change of amebic carriage.

Detailed description: HIV-infected persons who are men having sex with men (MSM) are prone to acquire invasive amebiasis. It would cast great threat for public health if the pathogens are spread by way of human to human transmission and food contamination.
  From 2000 to 2004, we assessed the seroprevalence of Entamoeba histolytica infection using indirect hemagglutination antibody (IHA) assay among 667 HIV-infected persons (group 1), 1311 asymptomatic HIV-uninfected persons seeking anonymous HIV testing (group 2), 616 HIV-uninfected controls with gastrointestinal symptoms (diarrhea and/or liver abscess) seeking medical care (group 3), and 2500 healthy controls undergoing health check-up (group 4). An IHA titer greater than 128 was detected in 7.1% of group 1, 2.5% of group 2, 1.8% of group 3, and 0.1% of group 4 (p<0.0001). The highest seroprevalence (11.2%) was noted among HIV-infected persons who were MSM aged 30 to 39 years. Compared with persons with gastrointestinal symptoms, the adjusted odds ratio for having high IHA titers among HIV-infected persons was 3.206 (95% confidence interval, 1.433, 7.176) (p=0.005). These findings demonstrate that HIV-infected persons, especially MSM aged 30 to 39 years, are at significantly higher risk of E. histolytica infection.
  In this two-year study, we will target two high risk groups, including MSM of HIV-infected and those of non-HIV-infected. We will avail the serodiagnosis to detect the potential amebic carriers in both groups; and use microscopy to detect protozoas other than amebiasis. Meanwhile we will also survey the patients' status of sexual transmitted diseases (STD). For the amebic carriers, we will apply specific antigen and molecular biologic method to follow up the duration of the persistence of fecal amebas. We try to clarify the dynamic change of amebic carriage.
  We anticipate this study could outline the epidemiology and risk factors of protozoal infections and STD in MSM cohorts. We also hope to reduce the the infection rate (protozoa and HIV) and disease rate (STD) through the repetitively effective health education and consultation during the conduct of this study.

Eligibility: Inclusion Criteria:
  -  Clinical diagnosis of HIV-1 Disease
  -  Clinical diagnosis of Intestinal protozoal infections

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Functional Abilities in Rett Syndrome

Summary: The purpose of this study is to evaluate and determinate the functional abilities in Rett syndrome conforming to the established Pediatric Evaluation of Disability Inventory (PEDI).

Detailed description: Rett syndrome (RS) is a progressive neurological disturbance of genetic cause that affects females almost exclusively. It is caused by mutations, usually sporadic, of the MECP2 gene located in the X chromosome. In consequence to the serious cognitive and motor compromise, the RS patients have great difficulty in accomplishing day-to-day tasks. The objective of this work is to evaluate the functional abilities in RS to help therapists in theirs treatments programs.

Eligibility: Inclusion Criteria:
  -  Patients with Rett syndrome that matched the criteria for the classic form of the disease
  Exclusion Criteria:
  -  Any other disease;
  -  Rett syndrome associated with other disease
  -  Rett syndrome that not that matched the criteria for the classic form of the disease

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Hereditary Colorectal and Associated Tumor Registry Study

Summary: After informed consent, participants will be asked to complete a medical/family history questionnaire and provide a blood sample. Participants will also be asked for their permission for study investigators to access medical records and/or recontact them for updates to their medical and family histories. Data and biospecimens will be stored for potential future research projects.


Eligibility: Inclusion Criteria:
  -  Identified gene mutation
  -  Personal history of colorectal cancer diagnosed ≤ 50
  -  Personal history of cancer with tumor studies suggestive of Lynch syndrome
  -  Personal history of multiple primary tumors associated with a hereditary cancer syndrome (colorectal, uterus, stomach, ovary, small bowel, hepatobiliary tract, transitional cell carcinoma of the renal pelvis/ureter, brain)
  -  Personal history of one of the above cancers and a family history of one or more of the above cancers
  -  Personal or family history of diffuse gastric cancer
  -  From a known genetic predisposition family
  -  Personal history of > 10 colon adenomas (cumulative over a lifetime)
  -  Personal history of any number of hamartomatous polyps
  -  Personal history of multiple large (> 1cm) serrated polyps to right of sigmoid
  Exclusion critera:
  -  Individuals under the age of 8
  -  Individuals who cannot travel to Pittsburgh for in-person enrollment
  -  Individuals who cannot provide informed consent

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC)

Summary: Cohort CNC-PPNAD will be investigated with clinical, genetic, biological and imaging work-up every year during 3 years. Cohort L-MC will be investigated clinically at inclusion and a PERKAR1A genotype will be performed.

Detailed description: The primary aim is to assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD) in patients with CNC, isolated PPNAD or carriers of PRKAR1A and PPNAD1 (PDE11A4) germline mutation (Cohort CNC-PPNAD). In this cohort genotype/phenotype correlation will be studied. A second aim is to determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis (Cohort L-MC).

Eligibility: Inclusion Criteria:
  CNC group :
  -  patient with the CARNEY complex (CNC) or the primary pigmented nodular adrenocortical disease (PPNAD) or a germinal mutation of the gene of CARNEY Complex or PPNAD.
  -  No age criteria
  -  Inform consent of the patient or the parental authority collected
  -  Realization of a preliminary medical examination
  -  Affiliated with a social security system ( profit or having right)
  MC-L group :
  -  Patient with periorificial lentiginosis or cardiac myxoma
  -  or previous history of periorificial lentiginosis or cardiac myxoma
  -  age > or = 18 years old
  -  Realization of a preliminary medical examination
  -  Affiliated with a social security system ( profit or having right)
  Exclusion criteria :
  CNC group and MC-L group:
  -  refusal or incapacity to take part in the study

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Gas Embolism With Use of Argon Plasma Coagulation

Summary: The purpose of this study is to use transesophageal echocardiography (TEE) to determine the incidence, severity, and clinical significance of gas bubbles during argon plasma coagulation (APC).

Detailed description: Gas embolism is a rare but serious complication of APC. We will use TEE to monitor for gas bubbles during APC. APC will be terminated if gas bubbles are associated with ischemic heart rhythms, wall motion abnormalities, or if large gas bubbles are noted in the left ventricle.

Eligibility: Inclusion Criteria:
  -  Adults (male and female) 18 years of age or older
  -  Clinical indication for bronchoscopy (hemoptysis, airway obstruction, tumor excision, granulation tissue that is impairing endobronchial stent performance)
  -  Ability of the patient or proxy to read, comprehend, and sign informed consent document.
  Exclusion Criteria:
  -  Presence of esophageal disorders that may complicate transesophageal echocardiography (strictures, varices, fistula, prior esophageal surgery)
  -  Presence of coagulopathy or other bleeding diathesis
  -  Inability to tolerate brief periods of apnea
  -  Presence of pulmonary vascular disease
  -  Pregnant women will not be included in this study because the potential fetal hypoxemia is not an acceptable risk.
  -  No exclusions will be made based on gender or race.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Study Evaluating The Use Of Sirolimus In Recipients Of Kidney Allografts From Expanded Criteria Donors (ECD)

Summary: The purpose of this observational study is to examine the clinical outcomes of the use of sirolimus as base therapy in kidney allograft recipients from Expanded Criteria Donors (ECD) under conditions of routine clinical practice. The primary objective is to identify the current criteria/reasons to use sirolimus as base therapy in this selected population and define and understand the emerging patterns of immunosuppressive treatment with sirolimus.

Detailed description: pilot study

Eligibility: Inclusion Criteria:
  -  Patients aged 18 years or older.
  -  Patients who received a renal transplant (primary, secondary, tertiary, etc.) without pancreas, from Expanded Criteria Donors (ECD), 3 months prior and no later than 1 year at the time of study enrollment.
  -  Patients who provided informed consent.
  -  Patients without sirolimus as base therapy.
  Exclusion Criteria:
  -  Patients who are unwilling or unable to provide informed consent or who lack a legal guardian or designee able to provide consent on their behalf.
  -  Patients who are unable to complete the study.
  -  Patients who are participating in another clinical trial during the last 6 months.
  -  Pregnant or lactating patients.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Study of Genes and the Environment in Patients With Endometrial Cancer in the East Anglia, Oxford, Trent, or West Midlands Regions of the United Kingdom

Summary: RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
  PURPOSE: This study is looking at genetic susceptibility to cancer and interactions between genes and the environment in patients with endometrial cancer.

Detailed description: OBJECTIVES:
  -  To obtain epidemiological information and biological material on a population-based series of endometrial cancer cases.
  -  To define the proportion of endometrial cancer incidence attributable to mutations in known predisposing genes such as MSH2 and MLH1.
  -  To determine the risk associated with these predisposing mutations by examining the cancer risk in relatives of patients who are shown to be carriers.
  -  To examine the effect of nongenetic risk factors in mutation carriers.
  -  To determine the pathological and clinical characteristics of endometrial cancers occurring in mutation carriers as compared with that in noncarriers.
  -  To establish whether mutations at other loci may predispose to endometrial cancer by comparing the frequency of alterations in endometrial cancer patients with the corresponding frequency in cancer-free controls identified through the European Prospective Investigation of Cancer (EPIC) study.
  OUTLINE: This is a multicenter study.
  Patients complete an epidemiological questionnaire. The questionnaire will request identifying information about the patient's first-degree relatives.
  Blood samples are collected from patients. DNA is extracted from these blood samples and from samples collected from cancer-free control participants in MREC-SEARCH-CONTROL as well as from additional controls through the European Prospective Investigation of Cancer (EPIC) study (a population based study of diet and health based in Norfolk, East Anglia). DNA samples are analyzed for polymorphisms of low penetrance cancer susceptibility genes.
  In addition to the endometrial cancer patients recruited for this study, patients with breast, ovarian, prostate, colorectal, bladder, kidney, pancreatic, brain and esophageal cancer, malignant melanoma, and lymphoma cancer are recruited in the following related clinical trials: MREC-SEARCH-BREAST, MREC-SEARCH-OVARIAN, MREC-SEARCH-PROSTATE, MREC-SEARCH-COLORECTAL, and MREC-SEARCH-CANCER.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of endometrial cancer within the past 5 years
  -  Identified in any of the following geographic regions of the United Kingdom:
  -  East Anglia
  -  Oxford
  -  Trent
  -  West Midlands
  PATIENT CHARACTERISTICS:
  -  Identified by the patient's general practitioner as fit to contact for this study
  -  No serious mental illness or retardation
  PRIOR CONCURRENT THERAPY:
  -  Not specified

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome

Summary: The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors


Eligibility: Inclusion Criteria:
  -  chromosomal deletion proven by FISH examination
  Exclusion Criteria:

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Frequency of Metabolic Syndrome in Down Syndrome Patients

Summary: The aim of this study is to assess the frequency of metabolic syndrome in Down syndrome patients because the prevalence of diabetes mellitus and obesity is higher in individuals with Down syndrome than in the general population.


Eligibility: Inclusion Criteria:
  -  Clinical diagnosis of Down syndrome
  Exclusion Criteria:
  -  History of congenital cardiac defects requiring open-heart surgery
  -  History of gastroenterologic anomalies requiring bowel resection and/or ongoing medical intervention
  -  History of leukemia or other cancer
  -  History of hypothyroidism requiring thyroid hormone replacement

Relevance to patient case: not relevant