araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: The Oncopanel Pilot (TOP) Study

Summary: The BCCA Oncopanel is a clinical assay being developed to determine genotype status of a prospectively defined set of genes.
  The purpose of this pilot study is to assess the feasibility and effect on clinical-decision-making of the Oncopanel test. Eligible patients are those with advanced lung, colorectal, melanoma and GIST cancers and patients with diagnosed malignancies being considered for clinical trials.

Detailed description: Somatic mutations in solid tumors represent an established means of characterizing malignancies for prognostic, diagnostic and therapeutic purposes. Mutations in EGFR, KRAS, BRAF, and KIT and PDGFRA genes direct therapy in patients with advanced lung, colorectal, melanoma, and GIST tumors, respectively. Known or novel mutations in other genes may also be of clinical significance but are not identified by current genotyping offered to BC Cancer Agency (BCCA) patients. Furthermore, numerous candidate genes have been implicated as potential prognostic and predictive biomarkers in patients with solid tumours. As such, the Oncopanel is a clinical assay being developed to determine genotype status of a prospectively defined set of genes. The following clinically relevant set of genes and exons are included in the Oncpanel: KRAS, EGFR, BRAF, NRAS and HRAS, PIK3CA Signal Transduction Pathway Genes, RAS-RAF-MEK-MAPK Pathway, HER2, IDH1 and IDH2, ALK, TP53, c-KIT, STAT1&3 and PDGFRA. Additional testing on the tumour material will also include analysis of specific gene variants associated with adverse events or response to therapy.
  Numerous studies have documented the presence of circulating tumour DNA (ctDNA) among patients with advanced and early stage malignancies (20-22). The ability to diagnose standard cancer mutations with a blood-based assay (a "liquid biopsy") has not yet been established but presents obvious advantages. The emergence of "resistance" mutations arising in the metastatic tumor or throughout the course of therapy is well documented (21, 22). A blood biopsy may represent more accurate determination of the tumor's genetic features than archival DNA specimen. Adequate tissue specimens can be difficult to obtain from some patients with diagnosed malignancies, particularly lung cancer. A blood biopsy may represent a less invasive and timelier means of diagnosing both standard and translational cancer mutations.

Eligibility: Patients with archival tumor tissue and a known history of invasive malignancies are eligible if they meet one or more of the following criteria:
  -  Advanced colorectal cancer and eligible for standard KRAS testing,
  -  Advanced non-small cell lung cancer and eligible for standard EGFR testing,
  -  Advanced melanoma and eligible for standard BRAF testing,
  -  Gastrointestinal stromal tumors (GISTs) eligible for standard c-KIT and PDGFRA testing,
  -  Being considered for potential eligibility in clinical trial.

Relevance to patient case: possibly relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Pilot Investigation of Behavioral Alternatives to Indoor Tanning

Summary: The goal of this research is to develop and test the feasibility of an intervention that stimulates uptake of healthy alternatives to tanning by providing free access to them for a limited time. Free access gives participants a low-risk opportunity to try something new that is consistent with their motivations. Free access also allows them to experience the reinforcing properties of the alternatives which could prime continued use after the free trial period. The objective of the present study is to determine the feasibility and short-term efficacy of providing free alternatives to indoor tanners in an effort to "nudge" them to switch from indoor tanning to healthy alternatives.

Detailed description: Melanoma is the second most common cancer diagnosed in young women and is responsible for nearly 8,000 US deaths per year. Exposure to ultraviolet radiation (UVR) increases risk for melanoma. The International Agency for Research on Cancer assigned indoor tanning (IT; use of tanning beds or booths), as a class 1 carcinogen joining arsenic, asbestos, and mustard gas. Unfortunately, interventions educating tanners about the risks have not been very effective. Many tanners are more motivated by the immediate consequences of tanning than the delayed consequence of possibly getting cancer. Research shows the primary motivation for indoor tanning is to improve physical appearance, but a secondary motivation is stress reduction. Behavioral economics theory suggests that the rate of a behavior depends on 1) the reinforcing value of that behavior relative to alternatives, 2) the cost of engaging in the behavior relative to alternatives, and 3) the availability of the behavior relative to alternatives. The purpose of the present study is to determine whether exposure to healthy alternatives changes the behavior of indoor tanners. The investigators will randomize tanners to conditions differing in physical appearance and stress reduction alternatives to determine whether they can get their motivational needs met in healthier ways.

Eligibility: Inclusion Criteria:
  -  Female
  -  Ages 16-65
  -  Report minimum of 10 indoor tanning visits in the last year with intentions to continue
  Exclusion Criteria:
  -  Ages <16 or >65
  -  Pregnant, breastfeeding, or planning to become pregnant during the study period
  -  Reporting less than 10 indoor tanning visits per year
  -  No intention to continue indoor tanning
  -  Using sunless tanning more than once in the last year and ever in the last 3 months
  -  Physically limited to do yoga or dance classes
  -  DHA allergy
  -  Inability to consent
  -  Prisoners

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Phase I-II Study With Tumor Molecular Pharmacodynamic (MPD) Evaluation and Pharmacokinetics of PD-0332991 in Patients Suffering Metastatic Melanoma

Summary: An open label multicentre, phase I-II study with tumour molecular pharmacodynamics (MPD) evaluation and pharmacokinetics of PD-0332991 added to vemurafenib in patients suffering metastatic melanoma with BR.
  The main objective is to establish the Maximum Tolerated Dose (MTD) of PD-0332991 when added to standard vemurafenib therapy (960 mg BID). The estimated MTD is defined as the dose of PD-0332991 combined with vemurafenib that will be associated with a prespecified proportion of patients experiencing a Dose-Limiting Toxicity (DLT), ie, 1/3.


Eligibility: Inclusion Criteria:
  -  Age > 18 years
  -  Stage IV or un-resectable stage III melanoma
  -  Presence of BRAF V600E/K mutation and CDNKN2A loss and expression of Rb using immunohistochemistry in a recent metastatic sample (< 6 months)
  -  A previous exposure to BRAF inhibitor or combination of BRAF and MEK inhibitors therapy is allowed unless it has been stopped more than 3 months before study enrolment(This will defined the two strata of the trial)
  -  No previous therapy by MEK inhibitor unless associated with BRAF inhibitors
  -  No previous therapy with the AKT/PI3K pathway inhibitor
  -  Patients should have a tumour available for repeated biopsies for pharmacodynamics evaluation
  -  Life expectancy of > 3 months
  -  ECOG performance status <2
  -  Signed informed consent
  -  Patient with health insurance coverage
  -  No patient under guardianship or curators
  Exclusion Criteria:
  -  Inadequate hepatic function defined as serum bilirubin>25 μmol/l, transaminases > 3.0 times the upper limit of normal (ULN) or 5ULN in cases of liver metastases;
  -  Inadequate bone marrow function defined as absolute neutrophil count<1500/mcl, platelets<150000/mcl and haemoglobin<8g/dL
  -  Inadequate renal function with serum creatinine>2.0mg/dl) and /or creatinine clearance< 60 ml/min
  -  Untreated brain metastases : Patients with brain metastases will be eligible if they have completed treatment 1 months prior to the start of study medication, have discontinued corticosteroid treatment for these metastases for at least 5 days, and are neurologically asymptomatic
  -  Myocardial infarct or unstable angina within the past 6 months
  -  Concomitant take of drugs known to be strong inhibitor or inducers of CYP314
  -  HIV positive.
  -  Chemotherapy, immunotherapy within 4 weeks
  -  Drugs interfering with PD-0332991 and vemurafenib metabolism
  -  Malabsorption syndrome or other condition that would interfere with enteral absorption
  -  Congenital long QT syndrome or screening QTc > 470 msec
  -  Need for chronic corticosteroid therapy of ≥10 mg of prednisone per day

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: The STRENGTH Study: Shapely Sisters Targeting Realistic Exercise and Nutrition Goals Through Healthy Habits

Summary: This study evaluates the efficacy of a stress-focused tailored weight loss intervention compared to a standard weight loss intervention on weight loss in severely obese (BMI > 40.0) African American women.

Detailed description: Stress has been identified as a major barrier to engaging in healthy lifestyle behaviors (e.g. diet and exercise) among African American women. African American women consistently lose less weight than their Caucasian counterparts in weight loss interventions. One reason for this disparity may be due to the failure of most weight loss interventions to address stress management adequately or in a culturally competent way.
  The purpose of this study is to evaluate the efficacy of a stress-focused tailored weight loss intervention compared to a standard weight loss intervention on weight loss in severely obese (BMI > 40.0) African American women. The stress-focused weight loss intervention will incorporate stress management content throughout the entire intervention and will include content that is culturally tailored. The standard weight loss intervention will cover stress management techniques during one of the 14 sessions and the material will be more generic in nature (e.g. not culturally tailored).

Eligibility: Inclusion Criteria:
  -  African American (self-identified)
  -  Female
  -  BMI > 40 kg/m2
  -  Access to internet connection and phone for personal use
  Exclusion Criteria:
  -  Unable to walk without the use of an assistance device
  -  Failure to pass the Physical Activity Readiness Questionnaire (PAR-Q) or unable to attain medical clearance from their doctor
  -  Substance abuse within past two years
  -  Schizophrenia
  -  Currently pregnant, pregnant within the past 6 months or plans to become pregnant in the next 6 months
  -  History of malignancy other than non-melanoma skin cancer, that has not been in remission or cured surgically for > 5 years
  -  Participation in a weight loss program in the past 12 months
  -  > 5% loss of body weight within the past 6 months
  -  Bariatric surgery recipient
  -  Heart attack in the past 6 months
  -  Stroke within the past 6 months
  NOTE: Participants who "fail" the PAR-Q will be required to obtain medical clearance from their medical provider

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Study Evaluating the Timing of Intrauterine Insemination in Relation to Positive Home Ovulation Prediction Kit

Summary: The aim of this study is to assess the impact of the timing of intrauterine insemination (IUI) in relation to the natural surge of luteinizing hormone (LH), as detected by home ovulation predictor kits, on pregnancy rates per treatment cycle. The study will take place at the offices of Midwest Fertility Specialists and include patients who have been independently recommended by their primary physician to undergo ovulation induction with clomiphene citrate (CC) or letrozole and IUI as therapy for infertility.

Detailed description: Intrauterine insemination is a procedure that is performed in the physician's office. During the procedure the sperm from the male partner are placed directly into the female partner's uterus around the time of ovulation (release of oocyte or egg). Ovulation predictor kits, available over the counter at pharmacies, test for the presence of luteinizing hormone in the urine. When the test result is a positive, it means the hormone is present in the urine. This is a sign of ovulation. Physicians typically choose to perform intrauterine insemination either the day of a positive ovulation test or the day after a positive ovulation test. The purpose of this study is to determine if the day when intrauterine insemination is performed influences the chance of becoming pregnant.

Eligibility: Inclusion Criteria:
  -  All couples consisting of male and female partner undergoing CC or letrozole cycle plus IUI at a single infertility center (Midwest Fertility Specialists)
  -  The female partner must be aged 21-39
  -  Infertile couples include those with a diagnosis(s) of unexplained infertility, mild male factor, ovulatory dysfunction, or anovulation
  -  Evidence of a normal uterus and at least unilateral tubal patency on saline infusion sonogram or hysterosalpingogram within the last 2 years
  -  Semen analysis for male partner must have minimal sperm concentration of 10 million per milliliter
  Exclusion Criteria:
  -  Recurrent miscarriages
  -  Nursing mothers
  -  Diagnoses of primary ovarian failure, diminishing ovarian reserve (as indicated by blood follicle stimulating hormone >10 milliInternationalUnits/mL and/or anti-mullerian hormone level <0.5), abnormal uterine bleeding of undetermined origin, ovarian cyst of undetermined origin, stage IV endometriosis, or sex-hormone dependent tumors
  -  Documented bilateral tubal obstruction or other uncorrected uterine anomalies (e.g. uterine septum)
  -  Previous gonadotropin use and/or previous treatment with in vitro fertilization
  -  Abnormal semen analysis (sperm concentration less than 10 million per mL) or ejaculatory dysfunction in male partner
  -  Other uncorrected medical condition in female partner that would be a contraindication to attempting elective ovulation induction (e.g., uncontrolled diabetes, intracranial lesion, thyroid or adrenal disease)

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Pancreatic Cancer Screening of High-Risk Individuals in Arkansas

Summary: 100 subjects who have a family history of pancreatic cancer (PC), or known genetic syndromes associated with increased risk of pancreatic cancer, will be followed for five years. This data will be used to determine the pancreatic cancer and precancerous lesion detection rate in High Risk Individuals (HRIs). Subjects may agree to annual imaging and annual biomarkers or to biomarkers only.


Eligibility: Inclusion Criteria:
  -  Have a family history of PC as listed below or who have one of the following syndromes: Peutz-Jeghers syndrome - STK11; BRCA 1 and 2; PALB2; ATM; FAMMM / P16; HNPCC (Lynch) / MMR genes; Hereditary pancreatitis - PRSS1
  -  Individuals with three or more affected blood relatives (1st, 2nd or 3rd degree)
  -  Individuals with two or more affected blood relatives with PC, with at least one affected FDR, should be considered for screening.
  -  Patients with a history of Peutz-Jeghers syndrome should be screened, regardless of family history of PC.
  -  Patients with a known p16 (FAMMM syndrome) with one affected 1st or 2nd degree relative will be considered for screening.
  -  Patients with a known BRCA1 or BRCA2 mutation with one affected 1st or 2nd degree relative should be considered for screening.
  -  Patients with a known PALB2 mutation with one affected family member should be considered for screening.
  -  Patients with a known Mismatch-repair gene-mutation carriers (Lynch syndrome) with one affected family member should be considered for screening.
  Exclusion Criteria:
  -  Not candidates for surgery

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Automatic Early Melanoma Detection by Ultrahigh Resolution Three Dimensional Optical Coherence Tomography

Summary: The investigators will use optical coherence tomography to detect the ex-vivo tissue image of surgical removed melanoma or other benign pigmented lesions of skin.

Detailed description: The investigators will use an advanced high resolution 3D optical coherence tomography (OCT) technology to observe skin tissue images in ex vivo culture. Parts of melanoma or benign pigmented lesions specimens derived from biopsy or surgical excision specimen will be observed by 3D optical tomography. A tiny tissue fragment of melanoma or benign pigmented lesions will be taken from surgical specimen without interference normal pathological evaluation. The location of melanocytic cells in melanoma or benign tissue fragments will be mapped by the 3D optical coherence tomography (OCT). The 3D optic tomography system utilize a Ce:YAG optical fiber as light source and also combined with confocal microscopy. Taken together, these features made the 3D optic tomography system have very high resolution and suitable for single cell imaging. This study will not interfere with the normal medical practice and had no impact on patient's safety and health. All of the materials will be destroyed once the experiments are done. The enrollment criteria will be dermatological patients who need to surgical intervention.

Eligibility: Inclusion Criteria:
  -  Patients aged older than 20 years old
  -  Patients who had melanoma, melanoma in situ, and/or other benign pigmented lesions,
  -  Patients who had non-melanoma skin cancers (basal cell carcinoma, or squamous cell carcinoma).
  -  Patients who had precancerous skin lesions (Bowen's disease, actinicc keratosis)
  Exclusion Criteria:
  • Pregnant women.

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Quality of Life and Surgical Late Effects of Melanoma Treatment

Summary: Health-related Quality of life in Danish stage IB-III cutaneous melanoma patients.

Detailed description: The aim of the PhD-study is to evaluate, in a large cohort of Danish melanoma patients:
  1. Health-related quality of life assessing psychological, physical and social well-being
  2. Physical long term side effects (lymphoedema, scarring and neuropathic pain)
  3. Lymphoedema assessed by clinical examination and DXA scans

Eligibility: Inclusion Criteria:
  -  AJCC stage IB-III cutaneous melanoma patients
  -  At least one year follow-up after melanoma surgery
  Exclusion Criteria:
  -  Pregnancy
  -  Bilateral axilla or groin melanoma surgery

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: 5-year Study to Track Clinical Application of DecisionDx-Melanoma Gene Expression Profile Assay Results

Summary: The INTEGRATE Registry Study follows patients with cutaneous melanoma who have had the DecisionDx-Melanoma gene expression assay performed. Data will be collected through review of medical records from clinical visits with physician.
  The purpose is to document the clinical application of results obtained from the DecisionDx- Melanoma multi-gene assay and to track outcomes of patients for whom DecisionDx-Melanoma testing has been completed. Additionally the study will assess the health economic impact of DecisionDx-Melanoma testing as it relates to the Melanoma population.


Eligibility: Inclusion Criteria:
  -  Patients diagnosed with melanoma and determined, by their physician, to be appropriate for DecisionDx-Melanoma testing and who have successful results available to the investigator are eligible for registration
  -  Patients enrolled should be reasonably able to follow-up with the enrolling physician at regular intervals for assessment of outcome data.
  -  16 Years and older
  Exclusion Criteria:
  -  Less than 16 Years of age

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Five Year Study to Track Use of DecisionDX-Melanoma Test in Patients With Cutaneous Melanoma and Associated Patient Outcomes

Summary: The EXPAND Registry Study follows patients with cutaneous melanoma who have had the DecisionDx-Melanoma gene expression assay performed as part of their clinical care. Data will be collected through review of medical records from clinical visits with physician.
  The purpose is to document the clinical application of results obtained from the DecisionDx- Melanoma multi-gene assay and to track outcomes of patients for whom DecisionDx-Melanoma testing has been completed. Additionally the study will assess the health economic impact of DecisionDx-Melanoma testing as it relates to the Melanoma population.


Eligibility: Inclusion Criteria:
  -  Patients diagnosed with melanoma and determined, by their physician, to be appropriate for DecisionDx-Melanoma testing and who have successful results available to the investigator are eligible for registration
  -  Patients enrolled should be reasonably able to follow-up with the enrolling physician at regular intervals for assessment of outcome data.
  -  16 Years and older
  Exclusion Criteria:
  -  Less than 16 Years of age

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: TTT Versus TTT and Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy

Summary: Proton beam therapy is a safe irradiation modality for choroidal melanoma. But often after irradiation the exudation increases resulting in an exudative retinal detachment requiring vitreoretinal surgery. It is known that intravitreally injected triamcinolone and TTT is capable to decrease the exudation. If there is any advantage in a combined treatment this study will investigate.

Detailed description: Proton beam therapy is an eye preserving irradiation modality for uveal melanoma. After proton beam therapy tumor related lipid exudation and exudative retinal detachment often increase. Therefore vitreoretinal surgery is sometimes required to reattach the retina to protect visual acuity. It is known that intravitreally injected triamcinolone and TTT is capable to decrease exudation. If there is any advantage in a combined treatment and if it is that effective to possibly avoid vitreoretinal surgery this study will investigate.

Eligibility: Inclusion Criteria:
  •exudation (tumor associated exudation/exudative retinal detachment) after proton beam therapy in choroidal melanoma and/or ciliary body melanoma
  Exclusion criteria:
  -  Tumor recurrence
  -  Endoresection and / or previous vitrectomy
  -  Treatment with anti-angiogenic drugs or intravitreal corticosteroids or any other investigational drug within 3 months prior to randomisation
  -  Prior laser photocoagulation treatment within 3 months (focal / grid laser) or 6 months (panretinal) prior to study entry
  -  Known hypersensitivity against local anaesthetics

Relevance to patient case: not relevant