araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 57-year-old female with Pancreatic adenocarcinoma. Genetic variant: RB1, TP53, KRAS. Other conditions: None.

Clinical trial: Pancreatic Cancer Genetics

Summary: The aim of this study is to determine the frequency of the three most common BRCA1 and BRCA2 genetic mutations that are commonly found in Ashkenazi Jewish patients with pancreatic cancer. Testing for BRCA1 and BRCA2 mutations in relatives of hereditary pancreatic cancer patients may have a significant impact; allowing for early screening, treatment, and resection of pre-malignant tissue or malignant lesions.

Detailed description: Pancreatic cancer is the fourth leading cause of death from malignancy in the United States. Up to 15% of pancreatic cancers have a hereditary component. Several gene mutations and cancer syndromes have been identified that are frequently found in greater frequency in individuals with pancreatic cancer, including the breast ovary cancer syndrome (BRCA1/BRCA2 mutations). No studies adequately describe the epidemiology of inherited pancreatic cancer and genetic risk factors that may modify the penetrance of BRCA1/BRCA2 mutations. The primary aim of this study is to determine the frequency of BRCA1 (185delAG,5382insC) and BRCA2 (6174delT) mutations in Ashkenazi Jewish pancreatic cancer patients. Secondary endpoints will include determining the individual frequency of these mutations and other disease-modifying mutations, death from any cause, disease-free survival, and stage of disease at time of presentation, differences in tissue pathology, risk factors, treatment decisions and development of metachronous malignancies.
  The investigator plan to study about 100 patients, which will enable the true frequency of the mutation to be estimated. Although the impact of BRCA1/BRCA2 mutations will be initially studied in the Ashkenazi population, these data will be widely applicable to other pancreatic cancer patients carrying BRCA1/BRCA2 mutations. Testing for BRCA1 and BRCA2 mutations in relatives of hereditary pancreatic cancer patients may allow early screening, treatment, and resection of pre-malignant tissue or malignant lesions.

Eligibility: Inclusion Criteria:
  -  Patients diagnosed with pancreatic cancer.
  -  Patients are of Ashkenazi Jewish descent.
  -  Patients have been Columbia Pancreatic Cancer Prevention Program Registry and Tissue Bank for High-Risk Individuals (IRB-AAAA6154).
  Exclusion Criteria:
  -  Inability to provide informed consent.
  -  Under the age of 18 years old.

Relevance to patient case: not relevant
Patient case: 57-year-old female with Pancreatic adenocarcinoma. Genetic variant: RB1, TP53, KRAS. Other conditions: None.

Clinical trial: Stool Testing for Pancreatic Cancer

Summary: The purpose of this study is to determine if pancreatic cancer/pre-cancer can be detected in early stages through the molecular analysis of stool samples. Investigators hypothesize that analysis of stool samples using digital melt curve (DMC) analysis, can be used as a sensitive and specific method to detect the common genetic abnormalities present in pancreatic cancers and pre-cancerous lesions of the pancreas.

Detailed description: Pancreatic ductal adenocarcinoma (PDC) remains the fourth leading cause of cancer-related death in the United States. This is largely due to the fact that most patients present with advanced, unresectable disease, highlighting the critical need for a screening test for this disease. Stool testing is an approach that has not been explored for use in PDC screening. With the advent of stool-based DNA tests, it may be possible to target genetic abnormalities that have been recently characterized in PDC tumorigenesis.
  Aim: The aim of this study is to determine if deoxyribonucleic acid (DNA) alterations present in pancreatic cancer and precancerous intrapapillary mucinous neoplasms (IPMN) can be reliably recovered in matched stool.
  Methods: This is a case-control prospective study to determine the utility of a stool-based digital melt curve (DMC) assay in PDC screening. A total of 30 patients (18 with pancreatic cancer, 12 with IPMN) who will be undergoing pancreatic resection will be enrolled. Pancreatic neoplastic tissue will be isolated from their surgical specimens and the genes most commonly mutated in PDC will be sequenced from extracted DNA. In addition, hypermethylation at common promoter sites will be assessed by methylation-specific PCR. The genetic and epigenetic alterations isolated in pancreatic tissue will be utilized as the targets for stool DMC assay. Blinded technicians will process stool specimens from control patients as well as a matched control. The primary outcomes of this study will be the sensitivity and specificity of the stool DMC assay in detecting genetic mutations present in tumor or IPMN lesions.

Eligibility: Inclusion Criteria:
  -  18 years of age and older.
  -  Tissue-confirmed or radiological evidence of either pancreatic adenocarcinoma or intrapapillary mucinous neoplasm(IPMN).
  -  Scheduled for surgical resection of the adenocarcinoma or IPMN.
  -  Able to give informed consent
  Exclusion Criteria:
  -  History of colorectal, gastric cancer, esophageal, or head-and-neck cancer.
  -  Endoscopic procedure conducted less than 1 week prior to enrollment.
  -  Unwillingness or inability to sign informed consent.

Relevance to patient case: not relevant
Patient case: 57-year-old female with Pancreatic adenocarcinoma. Genetic variant: RB1, TP53, KRAS. Other conditions: None.

Clinical trial: A Study Evaluating the Safety, Tolerability, and Pharmacokinetics of GDC-0623 in Patients With Locally Advanced or Metastatic Solid Tumors

Summary: This is an open-label, multicenter, Phase I dose-escalation study to assess the safety, tolerability, and pharmacokinetics of GDC-0623 in patients with locally advanced or metastatic solid tumors. Patients will be enrolled in one of two stages: a dose-escalation stage (Stage I) followed by an expansion stage (Stage II). Stage I will evaluate the safety, tolerability, and pharmacokinetics of increasing doses of GDC-0623 administered orally on a 21 day on/7-day off dosing schedule.


Eligibility: Inclusion Criteria:
  -  Histologically or cytologically documented, locally advanced or metastatic solid tumors for which standard therapy either does not exist or has proven ineffective or intolerable
  -  Evaluable disease or disease measurable per RECIST
  -  Life expectancy >= 12 weeks
  -  Adequate hematologic and end organ function
  -  Agreement to use effective form of contraception for the duration of the study
  -  Consent to provide archival tissue
  -  For the cohort expansion stage (Stage II): Patients in this cohort must have had no more than four prior systemic therapies for cancer and must have KRAS mutant CRC (Stage II A and B), pancreatic cancer (Stage IIC, or KRAS mutant NSCLC [Stage IID])
  Exclusion Criteria:
  -  History of prior significant toxicity from a MEK pathway inhibitor requiring discontinuation of treatment
  -  History of parathyroid disorder or history of malignancy-associated hypercalcemia requiring therapy in the last 6 months
  -  History of retinal vein occlusion (RVO) or predisposing factors to RVO, including uncontrolled hypertension, uncontrolled diabetes, uncontrolled hyperlipidemia, and coagulopathy
  -  Evidence of visible retinal pathology considered a risk factor for retinal vein thrombosis
  -  History of glaucoma
  -  Palliative radiotherapy, experimental therapy, or anti-cancer therapy or major surgical procedure within a specified timeframe prior to first dose of study drug
  -  Current severe, uncontrolled systemic disease
  -  History of clinically significant cardiac dysfunction
  -  History of active gastrointestinal bleeding within 6 months prior to screening
  -  Clinically significant history of liver disease, current alcohol abuse, or current known active infection with HIV, or hepatitis B or C virus
  -  Active autoimmune disease
  -  Uncontrolled ascites
  -  Pregnancy, lactation, or breastfeeding
  -  Known brain metastases that are untreated, symptomatic, or require therapy to control symptoms
  -  For the Exploratory PK Cohorts (Stage IB and Stage IC): Patients who have a history of or ongoing gastro-esophageal reflux disease or peptic ulcer, or who have gastric pathology or history of gastric surgery which could affect absorption of GDC-0623 from the stomach, will be excluded from these cohorts

Relevance to patient case: not relevant
Patient case: 57-year-old female with Pancreatic adenocarcinoma. Genetic variant: RB1, TP53, KRAS. Other conditions: None.

Clinical trial: Pemetrexed and Gemcitabine for Treatment Resistant Patients With Metastatic Colorectal Cancer and KRAS Mutations

Summary: This study aims to investigate the efficacy and safety of the combination of pemetrexed and gemcitabine in heavily pre-treated, chemotherapy resistant colorectal cancer patients with KRAS mutations.


Eligibility: Inclusion Criteria:
  -  Histologically verified adenocarcinoma in colon or rectum
  -  Age >18
  -  Metastatic colorectal cancer progressed after chemotherapy regimens containing fluoropyrimidines, oxaliplatin and irinotecan.
  -  KRAS mutation in primary tumour or metastasis.
  -  Measurable disease according to RECIST
  -  ECOG performance status 0, 1 or 2
  -  Adequate function of liver, kidneys and bone marrow measured by biochemistry (max. 2 weeks before enrolment)
  -  EDTA clearance: Uncorrected GFR > 45 ml/min.
  -  Neutrophilocytes ≥1.5 x 10^9/l, leukocytes ≥3.0 x 10^9/l, thrombocytes ≥100x10^9/l
  -  ALAT ≤ 3 x upper normal value (ULN), bilirubin ≤ 3 x upper normal value, Aptt and INR normal (or 2-3 at AC treatment). (ALAT and basic phosphatase ≤ 5 x upper normal value in case of liver metastases).
  -  Blood samples and paraffin embedded tissue from primary tumour and/or metastases for translational research.
  -  Fertile men and women (women <2 year after last menstruation) must use efficient birth control.
  -  Signed informed consent.
  Exclusion Criteria:
  -  Clinically significant other concurrent disease making the patient unfit for participation in the study according to the investigator.
  -  Other malignant disease within 5 years prior to study enrolment, except from planocellular and basal cell carcinomas in the skin or carcinoma-in-situ cervix.
  -  Other experimental treatment within 30 days prior to treatment start.
  -  Pregnant or breastfeeding women.
  -  Clinical or radiological signs of CNS metastases.
  -  Planned radiation of target lesions.
  -  Concurrent vaccination against yellow fever.

Relevance to patient case: not relevant
Patient case: 57-year-old female with Pancreatic adenocarcinoma. Genetic variant: RB1, TP53, KRAS. Other conditions: None.

Clinical trial: Frequency of Methods of Local Invasion of Pancreatic Adenocarcinoma

Summary: Pancreatic cancer often spreads through local invasion into local structures, including fat, blood vessels, nerves, and nearby organs (stomach, duodenum, spleen, bile duct). Local microscopic invasion is associated with recurrence of pancreatic cancer after pancreatic resection, such that even if the original cancer is surgically removed, microscopic areas of cancer often remain. Data on the patterns of local invasion by pancreatic cancer have not been published. In this study, The investigators hope to investigate the frequency of the various methods of local invasion of pancreatic adenocarcinoma. This would help the investigators better understand how pancreatic cancer spreads, and determine what cancers are not resectable.

Detailed description: Pancreatic cancer is the eighth most common malignancy, and the fifth leading cause of cancer-related death, in the United States. Unfortunately, patients often present late in the course of the disease. Accordingly, the 1- year survival rate is approximately 20%, and the 5-year survival rate is less than 4%. Even in patients with local disease who are surgical candidates, survival at five years remains only 10-25%. Staging for pancreatic adenocarcinoma typically utilizes the TNM classification, where "T" represents tumor size, "N" represents regional lymph node metastasis, and "M" represents distant metastasis. This type of staging can usually only be done after operative resection. Unfortunately, up to 25% of patients are found to be unresectable at the time of surgical exploration. This is most often due to local invasion or metastatic disease. Local microscopic invasion is associated with recurrence of pancreatic cancer after pancreatic resection. Comprehensive data on the patterns of local invasion by pancreatic cancer have not been published. The investigators believe that it would be beneficial to investigate the frequency of the various methods of local invasion of pancreatic adenocarcinoma. A clearer understanding of the natural history of local invasion could potentially lead to a better determination of what constitutes unresectability.

Eligibility: Inclusion Criteria:
  -  Tissue confirmed diagnosis of pancreatic adenocarcinoma.
  -  Underwent surgical resection for adenocarcinoma at the Columbia University Medical Center between 2001-2009.
  Exclusion Criteria:
  -  Did not undergo surgery.

Relevance to patient case: not relevant
Patient case: 57-year-old female with Pancreatic adenocarcinoma. Genetic variant: RB1, TP53, KRAS. Other conditions: None.

Clinical trial: An Observational Study to Evaluate the Safety and Efficacy of FOLFIRI / FOLFOX Plus Cetuximab as First-line Therapy in Patients With KRAS Wild-type Metastatic Colorectal Cancer

Summary: This is an open-label, non-randomized, prospective, multicentric, Phase IV study evaluating FOLFIRI/ FOLFOX plus cetuximab in the first-line therapy of subjects with KRAS wild-type metastatic CRC.

Detailed description: Cetuximab, a chimeric immunoglobulin G1 (IgG1) monoclonal antibody, has been found to potentiate the effects of chemotherapy and radiotherapy in experimental systems. The findings from clinical trials suggest a favorable risk-benefit ratio of the combination of irinotecan or oxaliplatin, infusional 5-FU/FA and biweekly cetuximab, and support the current study to demonstrate the therapeutic value of the biweekly cetuximab regimen as a combination partner for those regimens in subjects with KRAS wild-type mCRC in the first-line setting. The purpose of this study is to generate post marketing surveillance (PMS) data for cetuximab in first-line mCRC, which is mandated by the Licensing Authorities.
  This is an open-label, non-randomized, prospective, multicentric Phase IV study evaluating FOLFIRI/ FOLFOX plus cetuximab in the first-line therapy of subjects with KRAS wild-type metastatic CRC. The study plans to enroll 100 subjects with KRAS wild type CRC at 20 centres across India. Tumour status, physical and laboratory examinations will be performed during the baseline visit. Subjects will be administered FOLFIRI/ FOLFOX and cetuximab according to the clinical condition in the following treatment visits. Regular safety assessments and all adverse events (AEs) will be documented throughout and until the end-of-study visit. The outcome of AEs ongoing at the final tumour assessment visit will be followed up at the end-of-study visit (If possible, 6 weeks after the last administration of study medication but before second-line anticancer treatment, and not earlier than 30 days after the end of study treatment). Skin toxicity present at the end-of-study visit will be followed up until outcome is known.
  OBJECTIVES
  Primary Objective:
  -  To evaluate the safety and tolerability of Cetuximab in combination with standard chemotherapy such as FOLFOX or FOLFIRI as first-line therapy of patients with KRAS wild-type metastatic colorectal cancer.
  Secondary Objective:
  -  To evaluate the efficacy of Cetuximab in combination with standard chemotherapy as first-line therapy of patients with KRAS wild-type metastatic colorectal cancer.

Eligibility: Inclusion Criteria:
  -  Subjects with histologically confirmed, adenocarcinoma of the colon or rectum (mCRC)
  -  Subjects with KRAS wild-type status of tumour tissue
  -  Chemotherapy naïve subjects
  -  Subject who have signed written informed consent (as per institutional protocol)
  Exclusion Criteria:
  -  As per summary of product characteristics of cetuximab

Relevance to patient case: not relevant
Patient case: 57-year-old female with Pancreatic adenocarcinoma. Genetic variant: RB1, TP53, KRAS. Other conditions: None.

Clinical trial: KRAS Mutation and Incidence of the Colorectal Carcinoma in Martinique Between 2007 and 2009

Summary: -  There is no data at present concerning the KRAS mutation in patients from Martinique with colorectal cancer. Despite the fact that the incidence of this disease continues to increase there is no recent data to confirm it. This study has a descriptive purpose, allowing a comparison of the population from Martinique to other populations.
  -  A study of incidence of colorectal cancer, overseen by the Association from Martinique for the Epidemiological Search on Cancer (AMREC), also leads to a better knowledge of the local characteristics of the colorectal cancer.
  -  These two descriptive characteristics of colorectal cancer in Martinique will be useful data for the health professionals to provide their patients better care.

Detailed description: -  The colorectal carcinogenesis is complex. It influences among others, the EGFR (Epidermal Growth Factor Receptor) which activation leads to tumoral proliferation, differentiation and invasion. The binding of the EGF (Epidermal Growth Factor) or of another ligand to the EGFR is responsible for the activation of the Ras- Raf and Pi3k pathways.
  -  The mutation of the genes KRAS, BRAF or PIK3CA results in their continuous activation, independently of the activation or of the pharmacological blocking of EGFR. The most frequently found mutation affects the KRAS gene (20 to 50 % of the cases). 90 % of these mutations are situated on codons 12 and 13 of this gene (70 % codon 12 and 30 % codon 13). These mutations are responsible for a decrease of the GTPase activity of the ras protein, which stays then in active conformation bound to the GTP. This leads to the blocking of the pathway and to the inactivity of the pharmacological blocking of EGFR.

Eligibility: Inclusion Criteria:
  -  for the study of the KRAS mutation: 250 patients drawn by lots among the cases of colorectal carcinoma diagnosed between January 1st, 2007 and December 31st, 2009 in Martinique
  -  for the study of incidence: patient for whom was diagnosed a colorectal carcinoma between January 1st, 2007 and December 31st, 2009
  -  patient unopposed and in free agreement to participate in this study
  -  patient having his main home in Martinique at the time of the diagnosis
  -  patient 18 years old and over
  Exclusion Criteria:
  -  patient whose diagnosis is prior to 2007 and later in 2009
  -  patient having shown opposition to the participation in this study
  -  patient minor or under guardianship
  -  patient not having his main home in Martinique at the time of the diagnosis

Relevance to patient case: not relevant
Patient case: 57-year-old female with Pancreatic adenocarcinoma. Genetic variant: RB1, TP53, KRAS. Other conditions: None.

Clinical trial: A Study of BIBW 2992 (Afatinib) in Patients With Metastatic Colorectal Cancer

Summary: This Phase II study is open to patients with metastatic colorectal cancer who have tried but failed chemotherapy regimens containing oxaliplatin and irinotecan. Patients must not have received anti-EGFR (Epidermal Growth Factor Receptor) treatment (for example, cetuximab, panitumumab) in the past. Patients with wild-type KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog) colorectal cancer will be randomised to receive either BIBW 2992 or cetuximab. Patients with KRAS mutated colorectal cancer will not be randomised, but will all receive BIBW 2992. The main objectives of the study are: to compare the effectiveness of BIBW 2992 with that of cetuximab in patients with KRAS wild type cancer, and to assess the effectiveness of BIBW 2992 in patients with KRAS mutated cancer.


Eligibility: Inclusion criteria:
  1. Patients with metastatic colorectal cancer who have failed both oxaliplatin- and irinotecan-based regimens
  2. Tumour sample available for KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog) mutation testing and other biomarker analyses.
  Exclusion criteria:
  1. Prior treatment with Epidermal Growth Factor Receptor (EGFR) targeting small molecules or antibodies.
  2. Biological treatment (including Bevacizumab or any other antiangiogenic agents) during the trial is not allowed.
  3. Known pre-existing interstitial lung disease.
  4. Planned major surgical procedures during the trial period.

Relevance to patient case: not relevant
Patient case: 57-year-old female with Pancreatic adenocarcinoma. Genetic variant: RB1, TP53, KRAS. Other conditions: None.

Clinical trial: Gemcitabine/Cisplatin for Resected Pancreas Cancer: Establishing the Role of ERCC1 in Treatment Decision

Summary: The purpose of this study is to investigate if the investigators can use a specific marker in the pancreatic tumor itself to determine which patients will benefit from receiving combination chemotherapy of gemcitabine and cisplatin after undergoing resection of a pancreatic cancer.
  The investigators will also investigate if there is any benefit to receiving both chemotherapy drugs as opposed to only gemcitabine after undergoing complete resection of the tumor.

Detailed description: The study will specifically be looking at ERCC1 expression in pancreas cancer with regards to its prognostic and predictive value as a biomarker for patients receiving Gem / Cis as adjuvant therapy after resection.

Eligibility: Inclusion Criteria:
  1. Adults (≥ 18 years) at the time of signing informed consent form
  2. Understand and voluntarily sign informed consent form
  3. Able to adhere to study visit schedule and other protocol requirements
  4. Eastern Cooperative Oncology Group (ECOG) performance status of ≤ 2
  5. Absolute neutrophil count ≥ 1500 / mm³
  6. Platelet count ≥ 100,000 / mm³
  7. Resectable pancreatic adenocarcinoma
  8. Pathologic diagnosis of pancreatic adenocarcinoma
  Exclusion Criteria:
  1. Any serious medical condition, laboratory abnormality, or psychiatric illness that would prevent the subject from signing informed consent form
  2. A history of renal dysfunction (serum creatinine > 1.8 mg/dL)
  3. Presence of active infection
  4. Untreated second malignancy
  5. Pregnant or breast feeding females (A urine pregnancy test will be obtained in all women of child-bearing age at initial screening prior to study enrollment and administration of chemotherapy.)

Relevance to patient case: not relevant