araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Genetic Predictive Model Based on Single Nucleotide Polymorphisms in the DNA Repair Pathway and Drug Metabolis/Transport Pharmacogenetics in the Prediction of Response and Treatment Outcomes in Acute Myeloid Leukemia

Summary: The main component in the treatment of acute myeloid leukemia (AML) is consist of anthracycline (such as daunorubicin or idarubicin) and cytarabine. Inter-individual variability of transport/metabolism of the chemotherapeutic agent and several genetic pathways involved in the drug action might be associated with different response following the treatment for AML usually consisted of chemotherapy and/or transplantation. One of potential pathways involved in the drug action is DNA repair pathway, accordingly single nucleotide polymorphisms (SNPs) in the DNA repair machinery pathway might be a predictive marker for therapy outcomes in AML.
  Several genes were involved in the DNA repair machinery which are 1) Nonhomologous end joining (NHEJ) pathway involved in the G1/S phase, 2) Homologous recombinational repair (HRR) pathway involved in the S/G2 phase. XRCC4, LIG4, MRN and ATM are well known genes involved in the NHEJ pathway, while MRE11, RAD50, NBS1 (MRN), RAD51, XRCC2, XRCC3, RAD51B, RAD51C, RAD 51D, RAD52 or RAD54 are known to be associated with HRR pathway.
  A study suggested that the SNPs in the DNA repair pathway was involved in the susceptibility of secondary AML developing after chemotherapy or autologous hematopoietic stem cell transplantation, thus these SNP markers could become a predictive marker for secondary AML. However, it has never been investigated for multiple candidate pathways simultaneously with relateively larger number of patients. Accordingly, the current study attempts to investigate the potential role of the genotype markers in multiple candidate pathways, esp. focused on the DNA repair machinery, with respect to response following chemotherapy or survival of AML patients.
  Total of over 500 archived samples from the patients diagnosed as acute myeloid leukemia at the Samsung Medical Center, Seoul, Korea will be included, and genomic DNAs will be extracted and will be examined for their genotypes of the candidate SNPs involved in the DNA repair pathways. Then statistical analysis will be pursued for single marker analysis, haplotype analysis and for the construction of genetic risk model based on the multivariate analysis.


Eligibility: Inclusion Criteria:
  -  patients with acute myeloid leukemia
  -  15 years or older
  -  patients treated with induction/consolidation chemotherapy
  -  patients with available bone marrow sample
  Exclusion Criteria:
  -  acute biphenotypic leukemia

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Early Detection of Cancers in Low Resource Countries

Summary: The purpose of this study is to implement a community-based combined program for early detection of breast, cervical, ovarian and endometrial cancer in low-resource countries delivered through a free standing or a mobile Well Woman Clinic. The goals of this program are to downstage cancers and improve mortality rates using low-cost early detection methods. These programs will be implemented in regions where early cancer detection strategies are not in place and cancers present at advanced stages with resultant high mortality. Currently, there are three target project sites: Cambodia (June 2011), India (June 2011), and Brazil (March 2011). Memorandums of Understanding have been secured with local health organizations in each region to establish clinic operations. Each clinic would serve an approximate target population of 100,000 amongst whom about 12,000 eligible women (4-5,000 annually) will be invited to be screened for breast and cervical cancer over a three-year time span.

Detailed description: We will study the use of sonographic screening in addition to Clinical Breast Examination in low resource settings where screening programs are not currently in place and establishing a population based mammographic screening would be expensive, resource intensive, and difficult if not impossible to implement. The effectiveness of the screening and diagnostic methodology used for early detection of breast, cervical, ovarian and endometrial cancers in low resource settings will be studied. The program would involve screening of asymptomatic women for Breast and Cervical cancer and diagnostic assessment of symptomatic women for Ovarian and Endometrial cancer. Women in the age group of 30-59 yrs will be screened once every three years utilizing the following methods: Breast - clinical breast examination [CBE] and Sonography, followed by Fine needle aspiration biopsy (FNAB) of screen positive cases; Cervical - Human Papilloma Virus DNA testing followed by Cryotherapy of screen positive cases (Single visit, screen and treat approach); Ovarian - Transvaginal sonogram and clinical evaluation; Endometrial - Transvaginal sonographic assessment of the endometrial stripe.

Eligibility: Inclusion Criteria:
  -  Breast Cancer: women age 35-64
  -  Cervical Cancer: women age 30-59
  -  Ovarian Cancer: symptomatic post menopausal women age 50-64
  -  Endometrial Cancer: symptomatic post menopausal women age 50-64
  Exclusion Criteria:
  -  women under the age of 30

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Racial and Genetic Biomarkers of Response in Tissue Samples From Patients With Endometrial Cancer

Summary: This research study is studying racial and genetic biomarkers of response 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. DNA analysis of tumor tissue may also help doctors predict how well patients will respond to treatment.

Detailed description: PRIMARY OBJECTIVES:
  I. To identify racial categorization as the proportion of genetic background of African-American or European-American women with endometrioid endometrial cancer (EEC).
  II. To evaluate the association of racial genetic admixture with clinicopathologic variables and outcomes.
  SECONDARY OBJECTIVES:
  I. To compare the concordance between racial genetic admixture and self-designated race categorization.
  OUTLINE: This is a multicenter study. Patients are stratified by race (African-American vs European-American) and disease stage (I vs II vs III vs IV).
  DNA from archived frozen normal tissue samples is genotyped for the ancestry informative markers. Clinicopathological and demographic characteristics associated with each sample are also collected.

Eligibility: Inclusion Criteria:
  -  Histologically confirmed endometrial cancer
  -  Stage I-IV disease regardless of grade
  -  Underwent surgical staging including hysterectomy, bilateral oophorectomy, washings, and pelvic lymphadenectomy
  -  Eligible and evaluated on GOG-0210 clinical trial, a Molecular Staging Study in Endometrial Cancer
  -  Available frozen or formalin-fixed and paraffin-embedded normal tissue that is free of tumor cells and yields sufficient high-quality normal DNA for testing
  -  Consented their specimens and clinical data to be collected and used in future studies
  -  Self-declared African-American or Caucasian race

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

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: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Safety, Tolerability & Potential Anti-cancer Activity of Increasing Doses of AZD5363 in Different Treatment Schedules

Summary: This study is designed to investigate the safety and tolerability of a new drug, AZD5363, in patients with advanced cancer - and to identify a dose and schedule that can be used in the future. This study will also investigate how the body handles AZD5363 (ie, how quickly the body absorbs and removes the drug). This study will also investigate anti-tumour activity of AZD5363 in patients with advanced / metastatic breast, gynaecological cancers or other solid cancers bearing either AKT1 / PIK3CA or PTEN mutation.

Detailed description: A Phase I, Open-Label, Multicentre Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Anti-tumour Activity of Ascending Doses of AZD5363 under Adaptable Dosing Schedules in Patients with Advanced Solid Malignancies.

Eligibility: Inclusion Criteria:
  -  Aged at least 18 years.
  -  Parts A,B: The presence of a solid, malignant tumour, excluding lymphoma, that is resistance to standard therapies or for which no standard therapies exist.
  -  ER+/HER2+ breast, ovarian, cervical, endometrial cancer, or other solid cancers, resistance to standard therapies with a PIK3CA gene mutation (Part C), AKT1 gene mutation (Part D) or a dysregulatory aberration on the PIK/AKT pathway (Part D), advanced or metastatic ER+ positive breast cancer that has an AKT1 gene mutation (Part E) or advanced or metastatic ER+ positive breast cancer that has a PTEN gene mutation (Part F).
  -  The presence of at least one lesion that can be accurately assessed at baseline by CT, MRI or plain X-ray and is suitable for repeated assessment. Estimated life expectancy of more than 12 weeks.
  -  Estimated life expectancy of more than 12 weeks.
  Exclusion Criteria:
  -  Clinically significant abnormalities of glucose metabolism.
  -  Spinal cord compression or brain metastases unless asymptomatic, treated and stable (not requiring steroids).
  -  Evidence of severe or uncontrolled systemic diseases, including active bleeding diatheses or active infections including hepatitis B, C and HIV.
  -  Evidence of clinically significant cardiac abnormalities, uncontrolled hypotension, left ventricular ejection fraction below the lower limit of normal for the site or experience of significant cardiac interventional procedures.
  -  A bad reaction to AZD5363 or any drugs similar to it in structure or class.

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Narrow Band Imaging (NBI): A Novel Imaging Modality in Minimally Invasive

Summary: The purpose of this study is to determine whether narrowband imaging (NBI) makes it easier for a surgeon to see cancer.
  NBI is a kind of light. Normally, white light is used during surgery. White light uses many wavelengths of light. NBI only uses two wavelengths which highlight the blood vessels. This makes it easier for the surgeon to see blood vessels. Tumors often have more blood vessels than normal tissue. As a result, NBI may make it easier for the surgeon to see small tumors.
  In this study the surgeon will look with both normal white light and NBI. This way a comparison can be made to determine which is superior.
  Improved identification of tumors allows doctors and patients to make informed decisions about whether treatment is needed after surgery. It also provides additional information to determine which treatments may be best.


Eligibility: Inclusion Criteria:
  -  Patients must meet one (or more) of the following criteria:
  -  Preoperative diagnosis of ovarian, fallopian tube, or primary peritoneal carcinoma (all stage, grade and histology)
  -  Preoperative diagnosis of grade III endometrial carcinoma (all stage, all histology)
  -  Preoperative diagnosis of uterine serous carcinoma (all stage, all grade)
  -  Preoperative diagnosis of clear cell endometrial carcinoma (all stage, all grade)
  -  Preoperative diagnosis of endometrial carcinosarcoma (all stage, all grade)
  -  Gastrointestinal carcinoma (all histology, stage and grade)
  -  Pancreatic carcinoma (all histology, stage and grade)
  -  Lung cancer (all histology, stage and grade)
  -  Esophageal carcinoma (all histology, stage and grade)
  -  Suspected or pathologically confirmed metastatic disease to the lung (all disease primaries)
  -  Suspected or pathologically confirmed malignant pleural effusion (all disease primaries)
  Patients must meet all of the following criteria:
  -  Planned thorascopic robotic or laparoscopic surgical approach
  -  >18 years old
  -  Not pregnant
  -  Able to give consent Participation in other research protocols does not exclude a patient from participation in this study.
  Exclusion Criteria:
  -  None

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: P16 Staining as Prognostic Biomarker in Serous Papillary Endometrial Cancer

Summary: P16 is a tumor suppressor protein implicated in serous papillary endometrial carcinoma. Evidence from previous trials indicates that it may be used as a diagnostic biomarker distinguishing this disease from endometrioid endometrial cancer. Additional evidence points to its prognostic value.
  The current study will evaluate p16 both as a diagnostic tool for serous papillary endometrial cancer and as a prognostic biomarker.
  following anonymization, histology blocks will be microtomed and stained for P16 and P53 proteins.
  Blocks from endometrioid endometrial cancer will be used as a control group.


Eligibility: Inclusion Criteria:
  -  diagnosis of endometrial cancer
  -  histology block exists in hospital's library
  Exclusion Criteria:
  -  none

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: The Association of G9a Protein and Outcome of Patients With Endometrial Cancer

Summary: Tumor invasion and metastasis are the major causes of cancer-related death. Some studies have found that histone methyltransferases, such as EZH2, specifically affect metastasis in breast, gastric and prostate cancer. The functional roles of other members of the HMT family such as G9a in cancer remain obscure. Therefore, the investigators will investigate whether G9a have a role in recurrence/metastasis of endometrial cancer.


Eligibility: Inclusion Criteria:
  -  all cases with endometrial cancer underwent staging operation
  Exclusion Criteria:
  -  nil

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Risk Factors for Concurrent Endometrial Carcinoma in Patients With a Curettage Diagnosis of Endometrial Hyperplasia

Summary: Objective: To examine the risk factors for coexisting endometrial carcinoma in patients with endometrial hyperplasia.
  Method: Seventy-seven patients who received hysterectomy for endometrial hyperplasia were enrolled and divided into the non-endometrial carcinoma group (57) and the endometrial carcinoma group (20) depending on the final pathology. Clinical variables were analyzed.

Detailed description: We retrospectively reviewed the cases of seventy-seven patients who had hysterectomies for endometrial hyperplasia between January 1996 and September 2006 at the Department of Obstetrics and Gynecology, National Taiwan University Hospital. A preoperative pathologic diagnosis of endometrial hyperplasia was obtained by D&C (dilation and curettage) in all patients. Twenty of them were diagnosed as having endometrial carcinoma in their hysterectomy specimens. All of the specimens were reviewed by a gynecologic pathologist.
  Depending on the final pathologic reports of hysterectomy, we divided the seventy-seven patients into two groups - the non-endometrial carcinoma group and the endometrial carcinoma group. Fifty-seven of the studied patients were in the non-endometrial carcinoma group and twenty were in the endometrial carcinoma group. As already mentioned above, we investigated them by clinical parameters including age, menopausal status, obstetrical history, medical history of diabetes and hypertension, BMI (body mass index) and preoperative pathology of D&C.
  The clinical and pathologic characteristics of the twenty patients diagnosed as having endometrial carcinoma postoperatively were also reviewed. Initial manifestation, histological grading of the carcinoma, the depth of myometrial invasion, with or without adjuvant radiotherapy and recurrence were included. The histological grading of endometrial carcinoma was based on FIGO ( International Federation of Gynecology and Obstetrics ) definitions. The BMIs of the patients with endometrial carcinoma were also analyzed by the receiver operating characteristic curve. The Research and Ethics Committee of National Taiwan University Hospital approved this study.
  Statistical analyses were performed with the Independent-Samples T test and the Mann-Whitney test. Subsequently, multivariate analysis of risk factors was also employed with Binary logistic regression model to obtain the adjusted odds ratio (OR) and 95% confidence interval (CI) for selective variables. P<0.05 was defined as significant.

Eligibility: Inclusion Criteria:
  -  Endometrial hyperplasia patient having hysterectomy with or without bilateral salpingo-oophorectomy
  Exclusion Criteria:
  -  none

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: BKM120 as Second-line Therapy for Advanced Endometrial Cancer

Summary: This is a prospective multi-center, open-label, single arm, Phase II study to investigate the safety and efficacy of BKM120 in patients with advanced endometrial carcinoma whose disease progressed on or after a first-line antineoplastic treatment. Patients will receive BKM120 orally at a dose of 100 mg/day. Availability of tumor specimen (either archival tissue or a fixed fresh biopsy) is mandatory for assessment of the PI3K (Phosphatidylinositol 3 Kinase (PI3K) pathway activation status.


Eligibility: Inclusion Criteria:
  -  ECOG (Eastern Cooperative Oncology Group) performance status ≤ 2
  -  histologically confirmed diagnosis of advanced endometrial carcinoma with available tissue specimen for identification of PI3K pathway activation (archival tissue or a fixed fresh biopsy)
  -  one prior line of antineoplastic treatment with a cytotoxic agent
  -  objective progression of disease after prior treatment and at least one measurable lesion as per RECIST criteria
  -  adequate bone marrow and organ function
  Exclusion Criteria:
  -  previous treatment with PI3K and/or mTOR inhibitors
  -  symptomatic CNS metastases
  -  concurrent malignancy or malignancy within 3 years of study enrollment
  -  Active mood disorder as judged by investigator or medically documented history of mood disorder (e.g. major depressive episode, bipolar disorder, obsessive-compulsive disorder, schizophrenia, etc.), ≥ CTCAE grade 3 anxiety
  -  pelvic and/or para-aortic radiotherapy ≤ 28 days prior to enrollment in the study
  -  poorly controlled diabetes mellitus (HbA1c > 8 %)
  -  history of cardiac dysfunction or active cardiac disease as specified in the protocol
  -  impairment of gastrointestinal (GI) function or GI disease that may significantly alter the absorption of BKM120
  Other protocol-defined inclusion/exclusion criteria may apply

Relevance to patient case: definitely relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: A Phase II Study to Evaluate the Efficacy of TKI258 for the Treatment of Patients With FGFR2 Mutated or Wild-type Advanced and/or Metastatic Endometrial Cancer

Summary: This is a prospective, multi-center, open-label, single-arm, non-randomized, Phase II study to evaluate the efficacy and safety of TKI258 as second-line therapy in patients with either FGFR2 mutated or wild-type advanced and/or metastatic endometrial cancer.


Eligibility: Inclusion Criteria:
  -  Patients with histologically confirmed diagnosis of advanced and/or metastatic endometrial cancer with available tissue specimen (either archival tissue or fixed fresh biopsy)
  -  Female patients ≥ 18 years old
  -  Documented radiologically confirmed progression of disease after prior first-line treatment evidence of progressive disease
  -  ECOG (Eastern Cooperative Oncology Group) performance status ≤ 2
  -  At least one measurable lesion as per RECIST
  Exclusion Criteria:
  -  Previous treatment with an FGFR inhibitor
  -  More than one line of treatment for advanced or metastatic disease
  -  Patients with uterine sarcomas, adenosarcoma, and malignant Mullerian tumors
  -  Patients with isolated recurrences (vaginal, pelvic, or para-aortic) potentially curative with radiation therapy or surgery
  -  Known central nervous system (CNS) metastases
  -  Malignancy within 3 years of study enrollment Other protocol-defined inclusion/exclusion criteria may apply

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: A Study Of Two Dual PI3K/mTOR Inhibitors, PF-04691502 And PF-05212384 In Patients With Recurrent Endometrial Cancer

Summary: This study will investigate the individual safety and efficacy of two dual PI3K/mTOR inhibitors in patients with recurrent endometrial cancer.

Detailed description: The study was prematurely discontinued due to lack confidence in the Stathmin assay as a patient selection criteria and subsequent lack of confidence in the efficacy signal that was observed. The decision to terminate the study was made on January 23, 2014. It should be noted that safety concerns have not been seen in this study and have not factored into this decision.

Eligibility: Inclusion Criteria:
  -  Recurrent endometrial carcinoma
  -  Disease progression following one or two lines of prior treatment with platinum containing chemotherapy
  -  Tumor tissue available at time of screening for PI3K analysis
  -  Adequate performance status
  -  Adequate glucose control, bone marrow, kidney, liver, and heart function
  Exclusion Criteria:
  -  More than 2 prior cytotoxic chemo regimens for endometrial carcinoma
  -  Prior therapy with an agent known to be a PI3K, and or mTOR and or AKT inhibitor
  -  Active brain metastases

Relevance to patient case: definitely relevant