araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

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: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Studying DNA and Outcome in Patients With Advanced Colorectal Cancer Treated With Fluorouracil and Oxaliplatin With or Without Bevacizumab on Clinial Trial E-3200

Summary: RATIONALE: Studying samples of blood, urine, and tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer. It may also help doctors predict how patients respond to treatment.
  PURPOSE: This laboratory study is analyzing the DNA in tissue samples from patients with advanced colorectal cancer treated with fluorouracil and oxaliplatin with or without bevacizumab on clinical trial E-3200.

Detailed description: OBJECTIVES:
  -  Determine the CpG island methylation pathway markers that are adverse for survival after treatment with fluorouracil in patients with advanced colorectal adenocarcinoma treated with fluorouracil and oxaliplatin with or without bevacizumab on clinical trial E-3200.
  -  Compare the methylation results to clinicopathologic and molecular findings and survival.
  OUTLINE: This is a multicenter study.
  Tissue, blood, and urine samples and genomic DNA samples from tumor tissue blocks are examined by pyrosequencing assay for methylation. Genes examined include MINT1, MINT31, P14, and P16. Microsatellite instability and loss of heterozygosity (LOH) on chromosome 18 (18q LOH) are also assessed. Microsatellites examined include BAT loci, TGFβRII, D2S123, D55346, and D17S250.
  PROJECTED ACCRUAL: A total of 350 specimens will be accrued for this study.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of adenocarcinoma of the colon or rectum
  -  Advanced disease
  -  Enrolled on clinical trial E-3200 and received fluorouracil and oxaliplatin
  -  Tumor tissue blocks available
  -  Routine pathology specimens (i.e., blood, urine) available
  PATIENT CHARACTERISTICS:
  -  Not specified
  PRIOR CONCURRENT THERAPY:
  -  See Disease Characteristics

Relevance to patient case: not relevant
Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Identifying Prognostic Factors in Patients Receiving Tegafur-Uracil for Stage II Colon Cancer That Was Completely Removed By Surgery

Summary: RATIONALE: Studying samples of tumor tissue in the laboratory from patients with cancer may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer. It may also help doctors predict which patients will respond to treatment.
  PURPOSE: This laboratory study is looking at prognostic factors in patients receiving tegafur-uracil for stage II colon cancer that was completely removed by surgery.

Detailed description: OBJECTIVES:
  -  Identify the prognostic factors in patients with curatively resected stage II colon cancer receiving adjuvant chemotherapy with tegafur-uracil.
  -  Identify predictive factors of chemosensitivity to this regimen in these patients.
  OUTLINE: Available tumor tissue samples are analyzed by real-time reverse transcriptase-PCR for TS, DPD, TP, OPRT, VEGF, cyclooxygenase-2, and FPGS; by PCR for microsatellite instability and genomic deletions on chromosome arm 18q; and pathologically for tumor budding, Crohn's-like lymphoid reaction, category of extent of poor differentiation, and fibrotic cancer stroma. The candidate prognostic and predictive markers are analyzed for correlation with disease-free survival, relapse-free survival, and overall survival of patients.

Eligibility: DISEASE CHARACTERISTICS:
  -  Histologically confirmed adenocarcinoma of the colon or rectosigmoid
  -  Stage II disease
  -  Must be registered on clinical trial TMDU-BRI-CC-05-01
  -  Must have resected tumor tissue available
  -  No hereditary colorectal cancer
  PATIENT CHARACTERISTICS:
  -  ECOG performance status 0-1
  PRIOR CONCURRENT THERAPY:
  -  Not specified

Relevance to patient case: not relevant
Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Breast Cancer Risk in Women Who Are BRCA1/BRCA2 Mutation Carriers

Summary: This research study is looking at breast cancer risk in women who are BRCA1/BRCA2 mutation carriers. Studying samples of DNA in the laboratory from women who are BRCA1/BRCA2 mutation carriers may help doctors identify biomarkers related to cancer.

Detailed description: OBJECTIVE:
  I. To identify potential genetic modifiers of breast cancer risk in women who are carriers of the breast cancer susceptibility genes, BRCA1/2, by collecting data and genetic information from GOG-0199 and contributing it to the Consortium of Investigators of Modifiers of BRCA-Associated Breast Cancer (CIMBA), an international consortium of clinical cancer genetics investigators.
  OUTLINE: This is a multicenter study. Patients are stratified by study, country of residence, ethnicity, and birth cohort. Joint analyses of BRCA1 and BRCA2 mutation carriers are further stratified by mutation.
  Previously collected DNA samples and associated clinical information obtained from BRCA mutation-positive participants enrolled on GOG-0199 are studied. DNA samples are analyzed by mutation testing for variants (i.e., single nucleotide polymorphisms [SNPs]) in candidate genes of interest. Once genetic testing for a given set of variants has been completed, the coded laboratory data file is merged with selected demographic, clinical, and epidemiological data obtained from the GOG-0199 baseline questionnaire and submitted to the Consortium of Investigators of Modifiers of BRCA-Associated Breast Cancer (CIMBA) Central Database to analyze and publish the data. The epidemiological and SNP data contributed to the central database are then distributed to the investigators responsible for analysis of a particular SNP or set of SNPs from a candidate gene or genetic pathway.

Eligibility: Inclusion Criteria:
  -  Women with or without a personal history of breast cancer prior to enrollment in Gynecologic Oncology Group (GOG)-0199
  -  Known currently to be BRCA1/2 mutation carrier either by confirmed outside report or by research testing
  -  No BRCA1/2 mutation-negative or mutation-unknown status
  -  Enrolled on clinical trial GOG-0199 AND meets the following criteria:
  -  Completed baseline questionnaire (BQ-199)
  -  Provided information on previous breast cancer history, including date of diagnosis
  -  Provided complete data from the DNA analysis on the genetic variants of interest
  -  Available DNA samples for analysis
  -  Hormone receptor status not specified
  -  Pre- or post-menopausal status

Relevance to patient case: not relevant
Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Pegylated Liposomal Doxorubicine and Prolonged Temozolomide in Addition to Radiotherapy in Newly Diagnosed Glioblastoma

Summary: Glioblastomas represent 40% of all tumors of the central nervous system (CNS) and are among the most lethal tumors. Temozolomide (TMZ) combined with radiotherapy was the first substance to significantly improve the overall survival (to 14.6 months) as compared to surgery and radiotherapy alone and increased the proportion of patients surviving more than 2 years to 26%. TMZ showed the best efficacy in patients with a methylated O6-methylguanine-DNA methyltransferase (MGMT) promoter in part by eliminating stem cell-like tumor cells. Among patients with a methylated MGMT promoter, the median survival after treatment with combined radio-chemotherapy was 21.7 months, as compared to 15.3 months among those who were assigned to radiotherapy only. In the absence of methylation of the MGMT promoter, there was a smaller and statistically insignificant difference in survival between the treatment groups.
  Doxorubicin is one of the most effective substances in vitro against cells derived from glioblastoma. However, it has no significant effect in vivo due to poor blood-brain-barrier penetration. In a tumor model, tissue and CSF-concentrations of doxorubicin were substantially increased when sterically stabilized liposomes were used resulting in a comparable clinical response using approximately half of the dose of stabilized liposomes compared to conventional doxorubicin. A pegylated formulation (PEG-liposomal Doxorubicin) even further improved the penetration of the blood-brain barrier. Case series and two phase II-studies in patients with recurrent glioblastoma have shown modestly promising results for PEG-Dox.
  In this study, the investigators treated patients with recurrent glioblastoma with 20 mg/m2 PEG-Dox on days 1 and 15 of each 28-day cycle. To determine the dose limiting toxicity of PEG-Dox combined with prolonged administration of TMZ, the investigators performed a phase I part ahead of the phase II study. To investigate, by means of a historical control analysis, if the addition of PEG-Dox to TMZ and radiotherapy improves the survival of patients, the investigators chose similar inclusion criteria and identical TMZ and radiotherapeutic regimes as in the EORTC26981/NCIC-CE.3 study.


Eligibility: Inclusion Criteria:
  -  newly diagnosed glioblastoma
  -  centrally confirmed histology
  -  Karnofsky performance score (KPS) > 70%
  -  stable corticosteroids within 2 weeks before inclusion
  -  leucocytes > 3/ul, thrombocytes > 100/ul, Hb > 10 g/dl
  -  additional standard criteria
  Exclusion Criteria:
  -  other tumor in history
  -  pretreatment with radiotherapy to the brain

Relevance to patient case: not relevant
Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: A Comparison of Methods to Detect Polyps During Colonoscopy

Summary: Colorectal cancer (CRC) is the third most common cancer and second leading cause of cancer deaths in western countries. Colonoscopy is a preferred colorectal screening modality since it has both diagnostic and therapeutic capability. Detection and removal of polyps at colonoscopy decreases the incidence and mortality from colorectal cancer.
  Typical practice is to insert the colonoscope rapidly until it reaches the cecum (a pouch-like portion of the intestines, where the large bowel and the small bowel meet). The physician then withdraws the colonoscope slowly and looks for any polyps or abnormalities within the large bowel. The purpose of this study is to compare this standard practice to the approach whereby the physician examines the bowel as the scope is initially inserted AND as the colonoscope is withdrawn from patients' colons.


Eligibility: Inclusion Criteria:
  -  Adult patients
  -  Patients able to provide an informed consent
  -  Patients undergoing colonoscopy
  Exclusion Criteria:
  -  Pregnant women
  -  Patients with Familial Adenomatous Polyposis Syndromes (FAP)
  -  Patients with Hereditary Non-polyposis Colon Cancer Syndrome (HNPCC)
  -  Patients who have undergone previous surgical resection of the colon
  -  Patients who have been diagnosed with inflammatory bowel disease

Relevance to patient case: not relevant
Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Open Label Study to Assess Efficacy and Safety of Olaparib in Confirmed Genetic BRCA1 or BRCA2 Mutation Pats

Summary: To assess the efficacy of oral olaparib in patients with advanced cancer who have a confirmed genetic BRCA1 and/or BRCA2 mutation, by assessment of tumour response


Eligibility: Inclusion Criteria:
  -  Confirmed documented deleterious or suspected deleterious BRCA mutation. (The presence of a loss-of-function germline mutation in the BRCA1 and/or BRCA2 gene must be confirmed prior to consent according to local practice).
  -  Confirmed malignant solid tumours for which no standard treatment exists
  -  At least one lesion (measurable and/or non measurable) at baseline that can be accurately assessed by CT/MRI and is suitable for repeated assessment at follow up visits
  Exclusion Criteria:
  -  Any previous treatment with a PARP inhibitor, including olaparib
  -  Patients unable to swallow orally administered medication and patients with gastrointestinal disorders likely to interfere with absorption of the study medication
  -  Patients receiving any systematic chemotherapy, radiotherapy (except for palliative reasons) within 2 weeks from the last dose prior to study treatment (or a longer period depending on the defined characteristics of the agents used)

Relevance to patient case: not relevant
Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Short-course Preoperative Chemoradiotherapy Followed by Delayed Operation for Locally Advanced Rectal Cancer

Summary: Concurrent chemoradiotherapy (CRT)
  -  Radiotherapy 25 ㏉/5 fractions (start concomitantly at D1)
  -  ↓ ↓ ↓ ↓ ↓
  -  Radical surgery 6 weeks after completion of chemoradiotherapy
  -  ↑ ↑ ↑ ↑ ↑ D1 - - - - - D5
  -  5-Fluorouracil 400㎎/㎡/day + LV 20㎎/㎡/day IV bolus during the radiotherapy

Detailed description: Radiotherapy using tomotherapy is delivered in 5 Gy daily fractions for a total of 25 Gy in 5 fractions.
  A bolus injection of 5-fluorouracil (400 mg/m2/d)and leucovorin (20 mg/m2/d) is delivered concurrently on day 1-5 during radiotherapy.
  Total mesorectal excision is performed within 6±2 weeks. The pathological response of downstaing is the study endpoint.

Eligibility: Inclusion Criteria :
  -  Pathologically proven diagnosis of adenocarcinoma of the rectum (located within 8㎝ above the anal verge)
  -  Locally advanced and curatively resectable tumor(cT3-4 classification) evaluated with magnetic resonance imaging(MRI) with or without transrectal ultrasonography(TRUS)
  -  Age ≥18
  -  Performance Status(ECOG) 0-2
  -  CBC/differential obtained within 14 days prior to registration on study, with adequate bone marrow function defined as follows: Hemoglobin ≥ 10 g/dl, Absolute neutrophil count(ANC) ≥ 1,500 cells/㎣, Platelets ≥ 100,000cells/㎣
  -  Metabolic panel within 14 days prior to registration on study, with adequate liver and renal function defined as follows: AST and ALT ≤ 60 IU/L, bilirubin ≤ 1.5 mg/dl, serum creatinine ≤ 1.5 mg/dl
  -  Patient must provide study-specific informed consent prior to study entry
  Exclusion Criteria :
  -  Any evidence of distant metastases(M1)
  -  Prior invasive malignancy (except non-melanomatous skin cancer and uterine cervical cancer in situ) unless disease free to a minimum of 3 years
  -  Hereditary rectal cancer; Familial adenomatous polyposis(FAP), Hereditary non-polyposis colorectal cancer(HNPCC), etc.
  -  Impending obstruction (except the case with colostomy)
  -  Severe, active comorbidity inappropriate to CRT as follows; Acute bacterial or fungal infection, transmural myocardial infarction within the last 6 months, unstable arrhythmia, angina and/or congestive heart failure, unstable arrhythmia
  -  Pregnancy or women of childbearing potential who are sexually active and not willing/able to use medically acceptable forms of contraception
  -  Unresected synchronous colon carcinoma
  -  Clinically unresectable rectal cancer

Relevance to patient case: not relevant
Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Prognostic Biomarkers in Patients With Endometrial Cancer

Summary: This research study is studying prognostic biomarkers in tissue samples from patients with endometrial cancer. Studying samples of tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.

Detailed description: PRIMARY OBJECTIVES:
  I. To validate the clinicopathologic associations and prognostic significance of ATR mutation in endometrioid endometrial cancer cases with defective DNA mismatch repair.
  OUTLINE: This is a multicenter study.
  DNA extracted from previously collected tumor samples is analyzed to validate the clinicopathologic associations and prognostic significance of ATR mutation.

Eligibility: Inclusion Criteria:
  -  Women who were eligible and evaluable for the GOG-0210 molecular staging protocol in women with endometrial cancer
  -  Women who were registered during the unrestricted enrollment period (through 9/23/07) will automatically qualify
  -  Women who were registered during the restricted enrollment period (after 9/23/07) will only be considered if needed
  -  Women who had histologically confirmed endometrioid endometrial adenocarcinoma regardless of stage or grade
  -  Women who have defective DNA mismatch repair and are microsatellite instability positive (MSI+ and MSI-low)
  -  Women who consented to allow their specimens and clinical data to be used for future cancer research
  -  Women who have sufficient high-quality genomic DNA from tumor available for mutation analysis of ATR

Relevance to patient case: not relevant
Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Implementation of Laparoscopy-assisted Surgery for Colon Cancer

Summary: The purpose of this study is to study the implementation of laparoscopy-assisted surgery for cure of colon cancer in daily surgical practice.

Detailed description: Prospective observational study of laparoscopy-assisted surgery for resectable colon cancer with regard to short term and long term outcomes

Eligibility: Inclusion Criteria:
  -  Age >17 years
  -  diagnosis of colon cancer either endoscopically, radiologically or histologically proven
  -  No evidence of disseminated disease on CT scan
  -  T1-3 according to preoperative CT scan
  -  written informed consent to participate
  Exclusion Criteria:
  -  preoperative diagnosis of locally advanced tumor (T4)
  -  suspicion of pathological lymph nodes outside anticipated resection area
  -  contraindications against laparoscopic surgery, e.g. known bowel adhesions, anesthesiological concerns
  -  lack of informed consent

Relevance to patient case: not relevant
Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Multicenter Single-port Colectomy RCT

Summary: This clinical trial is going to compare the single-port and multi-port laparoscopic colectomy for colon cancer treatment, in terms of safety, efficacy, and cost.
  The investigators hypothesize that the single-port laparoscopic colectomy is not inferior to multiport laparoscopic colectomy.

Detailed description: This clinical trial is a multicenter prospective randomized trial to compare the single-port and multi-port laparoscopic colectomy for colon cancer treatment.

Eligibility: Inclusion Criteria:
  -  colon adenocarcinoma
  -  curative resection
  -  age : 20 ~ 85
  Exclusion Criteria:
  -  distal transverse colon cancer
  -  splenic flexure colon cancer
  -  descending colon cancer
  -  emergency operation
  -  obstruction
  -  perforation
  -  ASA 3 or 4
  -  pregnant woman
  -  tumor associated with FAP, HNPCC, or IBD
  -  distant metastasis
  -  adjacent organ invasion
  -  synchronous colorectal cancer
  -  other malignancy within last five years

Relevance to patient case: not relevant