araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Epidemiologic and Genetic Study on Familial Prostate Cancer

Summary: The aims of the study are:
  -  to identify genetic and molecular factors (rare mutations, polymorphisms) involved in the natural history of prostate cancers and their response to treatment,
  -  to evaluate and deduce their medical applications for screening and therapeutic management of these tumors.

Detailed description: The impact of genetic factors on the natural history of prostate cancer (PC) is shown schematically at two levels:
  1. first, at the constitutional level with germline alterations. Family history is found in 20% of PC patients. Different clinical entities associated with different modes of inheritance, susceptibility mutations or polymorphisms, define different evolutionary patterns. Also, studies suggested that some genetic polymorphisms alter the response to some treatments (such as recurrence after prostatectomy or radiotherapy) or adverse effects of those above (such as toxicity of radiation therapy).
  2. secondly, PC is characterized by the accumulation of genetic alterations (somatic alterations or acquired mutations). These changes contribute in varying degrees to the aggressiveness of the disease (such as early metastatic potential) and treatment failure (such as resistance to radiation or hormone resistance).
  The purpose of this study is to establish a register, with a follow up of cohort type and a collection of biological samples:
  -  For men with known prostate cancer.
  -  For men with no prostate cancer after a screening procedure for this disease, so that their biological samples can be compared to those of men with prostate cancer.
  The registry data and collected biological samples are used to identify genetic and molecular factors involved in susceptibility, genesis and evolution of prostate cancers.

Eligibility: Inclusion Criteria:
  -  patient with a histological confirmed prostate cancer
  -  member of a hereditary prostate cancer family
  -  healthy control men without prostate cancer
  Exclusion Criteria:
  -  Absence of signed informed consent
  -  refusal to participate in the study

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Traditional Chinese Medicine Syndrome Identification in Paediatric Neurology

Summary: Traditional Chinese Medicine (TCM) has a history of more than two millenniums. It has been a common practice in China, Taiwan, Japan and Korea and is becoming increasingly popular worldwide in recent decades However, there is no general consensus for treatment of many diseases among TCM practitioners. In some specialties, such as neurology, there is not enough well documented case reports for practitioners to make reference with. Different practitioners may give different opinions according to their own experience and patients often feel frustrated about that.
  Therefore, it is worth recording cases of neurological diseases, with accurate western medicine diagnosis and TCM theory explained. Possible TCM treatments can be suggested accordingly. Being an academic research supervised by western medicine doctor, this study can help to suggest more objective opinion with least conflict of interest.

Detailed description: Traditional Chinese Medicine (TCM) has a history of more than two millenniums. It has been a common practice in China, Taiwan, Japan and Korea. In recent decades, it is becoming increasingly popular worldwide(Victor S. Sierpina 2005). Studies in Hong Kong, showed that TCM is quite common among children in Hong Kong, with about a quarter of children consulting a pediatrician are concurrently using Chinese Medicine.(Lee 2006; Li 2006).
  However, there is a lack of standardized protocol for treatment of many diseases among TCM practitioners. In some specialties, such as neurology, there is not enough well documented case reports for TCM practitioners to make reference. Different TCM practitioners may give different opinions according to their own experience and patients often feel frustrated about that.
  Therefore, it is worth recording cases of neurological diseases, with accurate western medicine diagnosis and TCM theory explained. Possible TCM treatments can be suggested accordingly. Being an academic research supervised by western medicine doctor, this study can help to suggest more objective opinion with least conflict of interest.

Eligibility: Inclusion Criteria:
  -  Patients receiving medical care in the Department of Paediatrics and Adolescent Medicine in Queen Mary Hospital or the Duchess of Kent Children's Hospital, and
  -  Patients (or their care takers) who are able to provide accurate information about their signs and symptoms
  Exclusion Criteria:
  -  Patients (or their care takers) who are unable to report a reliable medical history

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Study of Circulating Tumoral DNA in Ovarian Cancer

Summary: Circulating tumor DNA detection and quantification in patients with ovarian cancer.

Detailed description: Technique development:
  In a first step, the different available techniques will be evaluated for specificity and sensibility using serial dilutions of cell lines with or without TP53 mutation.
  Validation:
  The tumor DNA detection rate will be estimated from patient's blood with ovarian cancer.
  The investigators will study 25 patients to obtain at least 15 patients bearing a TP53 mutation that could be characterized in the primitive tumor or metastasis. With those 15 patients, the investigators will determine the most sensitive technique and the best cost/efficiency ratio.

Eligibility: Inclusion Criteria:
  -  Age > or = 18 years.
  -  Patient with invasive ovarian cancer stage II to IV from FIGO classification.
  -  Patient treated by surgery.
  -  Patient with tumor or metastasis available for TP53 status characterization
  -  Patient able to stand a blood collection.
  -  Signed written informed consent approved by AFSSAPS and CPP.
  Exclusion Criteria:
  -  Patient without social protection / insurance.
  -  Borderline ovarian tumor.
  -  Non carcinoma ovarian tumor
  -  Patient with invasive ovarian cancer 5 years before diagnosis
  -  Current pregnancy and lactation.
  -  All social, medical, psychological, situations making the study impossible.
  -  Person deprived of liberty.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: A Study of MK-1775 in Combination With Paclitaxel and Carboplatin Versus Paclitaxel and Carboplatin Alone for Participants With Platinum-Sensitive Ovarian Tumors With the P53 Gene Mutation (MK-1775-004)

Summary: This is a study of the safety and efficacy of MK-1775 in combination with paclitaxel plus carboplatin in the treatment of ovarian, fallopian tube, and primary peritoneal tumors with the P53 mutation. In Part 1, a small group of participants will receive MK-1775 along with paclitaxel plus carboplatin to establish the tolerability of MK-1775 with this combination. In Part 2, participants will be randomly assigned to receive either MK-1775 plus paclitaxel and carboplatin OR placebo plus paclitaxel and carboplatin to assess efficacy of MK-1775 compared to placebo. The primary hypothesis of the study (Part 2) is that administration of MK-1775 in combination with paclitaxel plus carboplatin in participants with platinum sensitive p53 mutant ovarian cancer will result in improvement in progression free survival (PFS) per enhanced Response Evaluation Criteria In Solid Tumors version 1.1 (enhanced RECIST 1.1) compared to participants treated with paclitaxel plus carboplatin alone.


Eligibility: Inclusion Criteria:
  -  Histologically confirmed non-low grade, non-borderline (low malignant potential) ovarian, fallopian tube, or primary peritoneal cancer which has progressed after paclitaxel / platinum-based therapy.
  -  Platinum-sensitive disease. Radiological progression must have occurred 6 months or more after the completion of the most recent platinum-based treatment.
  -  Measurable disease.
  -  Available tumor sample(s).
  -  Performance status of ≤1 on the Eastern Cooperative Oncology Group (ECOG) Performance Scale.
  -  Adequate organ function.
  Exclusion Criteria:
  -  Pregnancy or the intention to become pregnant during the course of the study.
  -  Participation in a study with an investigational compound or device within 28 days of receiving first dose of study medication.
  -  Active central nervous system (CNS) metastases and/or carcinomatous meningitis.
  -  Primary CNS tumor.
  -  Known hypersensitivity or contraindications to the components of potential study therapy (paclitaxel, carboplatin, MK-1775) or its analogs (i.e. cremophor, mannitol, etc.).
  -  Participant requires the use of medications or products that are metabolized by, or inhibit, or induce Cytochrome P450 3A (CYP3A4).
  -  Ongoing peripheral neuropathies ≥Grade 2 and related to previous treatment.
  -  Known psychiatric or substance abuse disorders.
  -  Regular use (including "recreational use") of any illicit drugs or recent history (within the last year) of drug or alcohol abuse.
  -  HIV positive.
  -  Active Hepatitis B or C.
  -  Symptomatic ascites or pleural effusion.
  -  Clinical history suggestive of Li Fraumeni Syndrome.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Safety, Pharmacokinetics and Pharmacodynamics of BKM120 Plus MEK162 in Selected Advanced Solid Tumor Patients

Summary: This is an open label, dose finding, phase Ib clinical trial to determine the maximum tolerated dose (MTD) and/or the recommended phase II dose (RP2D) of the orally administered phosphatidylinositol 3'-kinase (PI3K) inhibitor BKM120 in combination with the MEK1/2 inhibitor MEK162. This combination will be explored in patients with epidermal growth factor receptor (EGFR) mutant non-small cell lung cancer (NSCLC) which has progressed on EGFR inhibitors and triple negative breast cancer, as well as pancreatic cancer, colorectal cancer, malignant melanoma, NSCLC, and other advanced solid tumors with KRAS, NRAS, and/or BRAF mutations. Dose escalation will be guided by a Bayesian logistic regression model with overdose control. At MTD or RP2D, two expansion arms will be opened in order to further assess safety and preliminary anti-tumor activity of the combination of BKM120 and MEK162.
  Study drugs will be administered once daily orally on a continuous schedule. A treatment cycle is defined as 28 days.


Eligibility: Inclusion Criteria:
  -  Histologically/ cytologically confirmed, advanced non resectable solid tumors
  -  Measurable or non-measurable, but evaluable disease as determined by RECIST
  Exclusion Criteria:
  -  Patients with primary CNS tumor or CNS tumor involvement.
  -  Diabetes mellitus
  -  Unacceptable ocular/retinal conditions

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome)

Summary: The purpose of this study is to compare the diagnostic efficacy of two follow-up schedules for the early detection of cancers in the population under study on cancer incidence at 3 years.


Eligibility: Inclusion Criteria:
  -  P53 mutation

Relevance to patient case: definitely relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Efficacy and Safety of Idelalisib (GS-1101; CAL-101) in Combination With Ofatumumab for Previously Treated Chronic Lymphocytic Leukemia

Summary: This study will evaluate the effect of the addition of idelalisib (GS-1101) to ofatumumab on progression-free survival (PFS) in participants with previously treated chronic lymphocytic leukemia (CLL).


Eligibility: Key Inclusion Criteria:
  -  Adults with previously treated recurrent CLL who have measurable lymphadenopathy
  -  Require therapy for CLL
  -  Have experienced CLL progression < 24 months since the completion of the last prior therapy
  -  Have disease that is not refractory to ofatumumab
  Note: Other protocol defined Inclusion/Exclusion criteria may apply.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Genomic Predictors of Decitabine Response in Patients With Acute Myeloid Leukemia or Myelodysplastic Syndromes

Summary: This clinical trial studies potential genetic markers which might be used to predict which patients with acute myeloid leukemia or myelodysplastic syndromes respond to decitabine. This study will contribute to the efforts to find effective and less toxic therapies to provide durable remissions in a significant proportion of elderly AML patients.


Eligibility: Inclusion Criteria:
  All of the following:
  -  Patient must have non-M3 AML or MDS
  -  An adverse risk karyotype defined by:
  -  Complex karyotype by cytogenetics, or
  -  Deletion of all or part of chromosome 5, 7, 12, or 17 defined by FISH or cytogenetics, or
  -  Somatic TP53 mutation
  All of the following:
  1. Patient must have an ECOG performance status ≤ 2.
  2. Patient must have >10% disease burden measured by cytomorphology, flow cytometry, or cytogenetics.
  3. Patient must have peripheral white blood cell count < 50,000/mcl.
  4. Patient must have adequate organ function, defined as:
  1. Total bilirubin < 1.5 x ULN
  2. AST/ALT < 2.5 x ULN
  3. Serum creatinine < 2.0 x ULN
  5. Patient must have undergone ≤ 2 cycles of prior hypomethylating agent (decitabine or azacitidine).
  6. Patient must be enrolled in HRPO# 201011766 ("Tissue Acquisition for Analysis of Genetic Progression Factors in Hematologic Diseases").
  7. Patient must be > 18 years of age.
  8. Patient must be able to understand and willing to sign an IRB-approved written informed consent document.
  Exclusion Criteria:
  -  Patient must not be pregnant or nursing
  -  Patient must not have acute promyelocytic leukemia or t(15;17) observed by FISH.
  -  Patient must not have known central nervous system (CNS) leukemia
  -  Patient must not have a history of positive human immunodeficiency virus (HIV) serology
  -  Patient must not have a history of positive hepatitis C serology
  -  Patient must not have undergone prior allogeneic stem cell transplant
  -  Patient must not have any uncontrolled intercurrent illness including, but not limited to, ongoing or active infection, ongoing or active graft-versus-host disease (GVHD), congestive heart failure of New York Heart Association (NYHA) class 3 or 4, unstable angina pectoris, cardiac arrhythmia, or psychiatric illness/social situation that would limit compliance with study requirements
  -  Patient must not have had radiation therapy within 14 days of enrollment
  -  Patient must not have received any chemotherapy within 21 days of enrollment and any acute treatment-related toxicities must have returned to baseline. Patients may be receiving hydrea at time of enrollment.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome

Summary: This study is aimed at exploring the use of whole body MRI for early cancer detection in TP53 mutation carriers and population controls, with the hypothesis that more cancers will be detected in the TP53 mutation carrier group. A secondary end-point will be the number of incidental findings detected and subsequent investigations required. A series of questionnaires will be used to assess the psychological impact of screening on both the study and control group.


Eligibility: Inclusion Criteria:
  -  Carrier of germline TP53 mutation which, in the view of the geneticist, is not known to be low penetrance OR non-related individual with no personal history of malignancy and no first degree relatives diagnosed with malignancy under the age of 50 years
  -  Please note, TP53 carrier cohort is complete and no longer open to recruitment
  -  Age between 18 and 60
  -  Able to give informed consent
  Exclusion Criteria:
  -  Individual with low penetrance TP53 mutation
  -  Individual with TP53 variant of unknown significance.
  -  Previous malignancy diagnosed < 5 years ago in TP53 carriers (except non-melanomatous skin cancer or cervical CIS) Previous history of malignancy in non-related controls (except non-melanomatous skin cancer or cervical CIS)
  -  Current symptoms suggestive of malignancy
  -  Contraindication to MRI (such as non-MR compatible metal implants) as specified by the standard MR safety checklist
  -  Claustrophobia
  -  ECOG performance status >2

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: A Multicenter, Prospective, Randomized Trial of Adjuvant Chemotherapy for Early-Stage Cervical Cancer Patients

Summary: We will conduct a trial to determine whether paclitaxel/cisplatin (TP) as an adjuvant chemotherapy after radical surgery improve disease-free survival (DFS) and overall survival (OS), as well as the quality of life (QoL) among early-stage (FIGO stage IB-IIA) cervical cancer patients with risk factors.


Eligibility: Inclusion Criteria:
  -  FIGO stage: ⅠB～ⅡA, cervical cancer;
  -  Age≤60 years; female, Chinese women;
  -  Initial treatment is radical hysterectomy + pelvic lymph node dissection;
  -  Pathological diagnosis: cervical squamous cell invasive carcinoma;
  -  Pathologic examination and meet the following one of the indications of adjuvant therapy: ① lymph node metastasis, ② parametrial invasion, ③ ≥ 2/3 deep stromal invasion, ④ histopathological grading in poorly differentiated (G2 to G3), ⑤ lymphatic vascular space involvement, ⑥ tumor diameter> 4cm;
  -  Laboratory tests: WBC≥4×10(9)/L, NEU≥2×10(9)/L, PLT≥80×10(9)/L, serum bilirubin≤ 1.5 times the upper limit of normal, transaminase≤ 1.5 times the upper limit of normal, BUN, Cr≤ normal
  -  Performance status: Karnofsky score≥60;
  -  No prior treatment;
  -  Receiving extensive resection of uterus (type III) plus pelvic lymph nodes wide resection; pathologically diagnosed with cervical squamous cell carcinoma;
  -  Provide written informed consent.
  Exclusion Criteria:
  -  With severe or uncontrolled internal disease, unable to receive surgery and/or unsuitable for radiotherapy or chemotherapy
  -  History of organ transplantation, immune diseases;
  -  History of serious mental illness, a history of brain dysfunction;
  -  Drug abuse or a history of drug abuse;
  -  Suffering from other malignancies;
  -  Concurrently participating in other clinical trials
  -  Unable or unwilling to sign informed consents;
  -  Unable or unwilling to abide by protocol.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Detailed description: CoRDS collects contact, sociodemographic and health information about participants. This information is entered into CoRDS and linked to a unique coded identifier. Below are some examples of information requested on the Questionnaire that will be entered into CoRDS:
  -  Contact information: Name, Mailing Address, Phone Number, Email Address
  -  Sociodemographic information: Date of Birth, Place of Birth, Sex, Gender, Ethnicity
  -  Health information: Family History, Information related to Diagnosis
  De-identified information in CoRDS will be made available to researchers, if they have obtained approval for their research project from (1) the Institutional Review Board (IRB) at the researcher's institution and (2) a panel of experts.
  A subset of de-identified information collected from each profile may be shared with certain other databases. This is done in order to help improve understanding of rare diseases, to avoid the duplication of efforts and to collaborate with existing research efforts with organizations dedicated to rare diseases.
  Participants may elect to have their information shared with patient advocacy groups (PAGs) representing individuals with rare or uncommon diseases who have partnered with CoRDS. The PAG will sign an agreement stating that they will not use the information for Research purposes. CoRDS personnel will not be held responsible for the use of information by the PAG.
  The CoRDS Registry will not be paid by Researchers, Other Patient Registries or Patient Advocacy Groups (PAGs) for access to information in CoRDS.
  If a parent/LAR consents on behalf of a minor, CoRDS will contact the participant when he or she reaches the age of 18 in order to obtain consent. If this consent is not obtained in a timely manner, the participant will be withdrawn from CoRDS.
  CoRDS contacts participants annually to confirm continued interest in participation in CoRDS, and to request that participants update the information they have provided.

Eligibility: Inclusion Criteria:
  -  Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare/uncommon disease
  Exclusion Criteria:
  -  Diagnosis of a disease which is not rare

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Haploidentical Stem Cell Transplantation and NK Cell Therapy in Patients With High-risk Solid Tumors

Summary: To evaluate feasibility and efficacy of haploidentical stem cell transplantation in patients with high-risk solid tumors who failed after tandem high-dose chemotherapy and autologous stem cell transplantation.
  To evaluate feasibility and efficacy of NK cell infusion after haploidentical stem cell transplantation in patients with high-risk solid tumors who failed after tandem high-dose chemotherapy and autologous stem cell transplantation.

Detailed description: HaploSCT following reduced-intensity conditioning (RIC) regimen will be performed in patients with high-risk solid tumors. Both parents will be evaluated for their KIR genotype and phenotype and the one with the greatest degree of KIR-L mismatch with the patient will be selected as the donor. In addition, ex-vivo expanded NK cells derived from the donor will then be administered after haploSCT to increase the GVT effect. Low-dose IL-2 will be given after expanded NK cell infusion to enhance NK cell alloreactivity.

Eligibility: Inclusion Criteria:
  -  age < 21 years old
  -  Patients with high-risk solid tumors who failed prior HDCT/autoSCT
  -  Patients with a suitable haploidentical donor
  -  High-risk solid tumors include high-risk neuroblastoma, metastatic or relapsed Ewing sarcoma, relapsed osteosarcoma, high-risk brain tumors, relapsed germ cell tumors, relapsed soft tissue sarcoma, relapsed rhabdomyosarcoma, and etc.
  -  stable disease with salvage chemotherapy after relapse
  Exclusion Criteria:
  -  organ dysfunction(NCI common toxicity criteria grade > 2)
  -  progression of disease despite salvage chemotherapy

Relevance to patient case: not relevant