araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: Characterizing the Cross-sectional Approach to Ovarian Cancer: Genetic Testing of BRCA

Summary: The multi-centered, cross-sectional investigations shall be conducted in this study with the objective of identifying the ownership ratio of gBRCAm on the newly diagnosed patients with epithelial ovarian cancer, primary peritoneal cancer or fallopian tube cancer in Japan.

Detailed description: This multi-centered, cooperative and epidemiological observation study is so designed to investigate the ownership ratio of gBRCAm in the newly diagnosed patients with epithelial ovarian cancer, primary peritoneal cancer or fallopian tube cancer because such a ratio has not yet been adequately clarified in Japan.
  The newly diagnosed eligible patients with epithelial ovarian cancer, primary peritoneal cancer or fallopian tube cancer shall be asked to participate in this study in order of diagnosis. After obtaining their consents by the written informed consent following appropriate explanation, investigations about the demographic information including the cancer family history shall be performed. Subsequently, blood is collected for investigation about gBRCAm. In addition, histological classification shall be conducted based on the resected tumor tissues.

Eligibility: Inclusion Criteria:
  For registration to this study, all of the following criteria should be satisfied:
  1. The subject can attach the signature to the Informed Consent Form (ICF), besides having his/her intention to put the signature.
  2. Female Japanese at more than 20 years of age
  3. The newly diagnosed patients whose epithelial ovarian cancer, primary peritoneal cancer or fallopian tube cancer is histologically confirmed as FIGO from the subject to obtain their utmost understandings. Limited to histopathological diagnosis based on resected tumor specimens (except the cytodiagnosis by ascites paracentesis).
  4. The histopathological specimens can be submitted to the central pathological judgment.
  5. Within 60 days after diagnosis of epithelial ovarian cancer, primary peritoneal cancer or fallopian tube cancer, the patient's written consent has been obtained.
  Exclusion Criteria:
  -  The subjects who coincide any of the following exclusion criteria are designated to be ineligible:
  1. In case of the subjects who are diagnosed to have acute or chronic physical or severe mental diseases except cancer, and about whom the attending responsible physician makes judgement to say that participation of these subjects would possibly increase the risks or would probably disturb the interpretation of the study results.
  2. In case of the subjects whose registration for the study is judged by the attending responsible physician as inappropriate.

Relevance to patient case: not relevant
Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.

Summary: TUMOSPEC is a national family study designed to measure the relative and absolute risk of cancer for carriers of deleterious mutations to these "new" breast cancer (BC) susceptibility genes. Index cases will be enrolled consecutively from patients attending an appointment at one of the Unicancer centres, with no other inclusion criteria, and offered a BRCA1/2 analysis as part of their care plan. A panel of 24 TUMOSPEC genes, chosen in advance by a steering committee, will be tested as the same time as the BRCA1/2 genes, at one of the usual BRCA1/2 analysis laboratories belonging to the same network and participating in the study. If a mutation is found, the index cases will be asked to invite their first and second degree family members and their cousins to take part in the study, regardless of whether they have cancer. Saliva samples will be then taken and used for a targeted analysis of the familial abnormality. Each participant will also complete an epidemiological questionnaire in order to gather information about his/her medical history and any exposure to various risk factors. All medical and genotype data will be centralised at the Genetic Epidemiology Research Platform (PIGE, INSERM). The cumulative mutation frequency for all genes is estimated at 10%. Penetrance will be analysed using methods designed to minimise selection bias. The expression spectrum of the mutations will also be described. For genes where the number of mutated families is too low, the data may be contributed to international consortia. The main project will be preceded by a two-year feasibility study, using the same inclusion criteria and logistic circuits. It is this pilot study to which the current funding application relates.


Eligibility: Inclusion criteria:
  Index case eligibility:
  Any person with an indication for a BRCA1/BRCA2 gene analysis and who has been offered TUMOSPEC panel screening.
  Age ≥18 years.
  Family member eligibility:
  Family members will be eligible if the mutation identified in the Index Case is considered deleterious.
  Any family member to the first and second decree or a cousin of the Index Case. Family members from both sides of the family will be invited to take part.
  Age ≥18 years.
  Exclusion Criteria:
  People deprived of their civil liberties or who are under judicial protection or guardianship.
  Patients unable to answer the questionnaire for social or psychological reasons.
  Children of the index cases, of any age.

Relevance to patient case: not relevant
Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: Prospective Cohort Study of Variant Carriers With BRCA1 or BRCA2

Summary: To determine the incidence and risk factors in the development of ovarian, fallopian tube, and peritoneal cancers in Japanese women carrying Breast Cancer Susceptibility Gene (BRCA)1/2 variants.

Detailed description: 1. To estimate the incidence of ovarian, fallopian tube and peritoneal cancers in women carrying BRCA1/2 variants.
  2. To investigate risk factors concerning the development of ovarian, fallopian tube, and peritoneal cancers (loci of BRCA1/2 genetic variants, modifier genes, genetic polymorphism, hormones, and lifestyle habits.) in women carrying BRCA1/2 variants.
  3. To estimate the detection rates of occult cancer based on histopathological evaluations, using risk-reducing salpingo-oophorectomy (RRSO).
  4. To examine the risk-reducing effect of RRSO on the development of ovarian, fallopian tube, and peritoneal cancers in women carrying BRCA1/2 variants, and compare with those not undergoing RRSO.
  5. To identify clinicopathological features in women carrying BRCA1/2 variants who had undergone RRSO.
  6. To identify the appropriate interval or degree of surveillance.

Eligibility: Inclusion Criteria:
  1. Women carrying BRCA1/2 variants (those with either BRCA1 or BRCA2 variants, or those carrying both variants) and women carrying a variant of uncertain significance (VUS).
  2. Women who have received sufficient genetic counseling at any medical institution, prior to enrollment to the study.
  3. Women who provide consent should be 20 years of age or older.
  4. Women who provide written consent.
  Exclusion Criteria:
  1. Women without ovarian or fallopian tube cancer at the time of informed consent.
  2. Women previously diagnosed with ovarian, fallopian tube, or peritoneal cancer, and not excluding those with a personal history of breast cancer development.
  3. Other individuals considered inappropriate for involvement in this study by the investigator.

Relevance to patient case: possibly relevant
Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: A Study of VB-111 With Paclitaxel vs Paclitaxel for Treatment of Recurrent Platinum-Resistant Ovarian Cancer (OVAL)

Summary: The purpose of this phase 3, randomized, multicenter study is to compare VB-111 and paclitaxel to placebo and paclitaxel in adult patients with Recurrent Platinum-Resistant Ovarian Cancer.


Eligibility: Inclusion Criteria:
  1. Female patients ≥18 years of age
  2. Histologically confirmed epithelial ovarian cancer and documented disease.
  3. Patients must have platinum-resistant disease
  4. Patients must have disease that is measurable according to RECIST 1.1 and require chemotherapy treatment.
  5. ECOG PS 0-1.
  6. Adequate hematological functions:
  -  ANC ≥ 1000/mm3
  -  PLT ≥ 100,000/mm3
  -  PT and PTT (seconds) < 1.2 X ULN. Patients who are anticoagulated do not need to meet criteria for PT and PTT.
  7. Patients who are known to carry a BRCA mutation (following PARP inhibitor treatment failure, intolerant of, or ineligible for PARP inhibitor treatment).
  Exclusion Criteria:
  1. Non-epithelial tumors (Carcino-sarcomas are excluded)
  2. Ovarian tumors with low malignant potential (i.e. borderline tumors) clear cell carcinomas, grade 1 serous tumors or mucinous tumors.
  3. History of other clinically active malignancy within 5 years of enrollment, except for tumors with a negligible risk for metastasis or death, such as adequately controlled basal-cell carcinoma, adequately controlled, non-metastatic squamous-cell carcinoma of the skin, or carcinoma in situ of the cervix or breast.
  4. Previous ovarian cancer treatment with >5 anticancer regimens.
  5. Any prior radiotherapy to the pelvis or abdomen.
  6. Inadequate liver function, defined as:
  -  Serum (total) bilirubin > ULN (Exception: documented Gilbert's disease patients can be enrolled)
  -  Alkaline phosphatase, AST/SGOT or ALT/SGPT ≥2.5 x ULN (or ≥ 5 x ULN in the presence of liver metastases).
  7. Inadequate renal function, defined as:
  -  Serum creatinine > ULN OR
  -  Calculated creatinine clearance < 50ml/min (by Cockroft & Gault formula)
  8. New York Heart Association (NYHA) Grade II or greater congestive heart failure
  9. History of myocardial infarction or unstable angina within 6 months prior to day of randomization.
  10. History of stroke or transient ischemic attack within 6 months prior to day of randomization.
  11. Patient with proliferative and/or vascular retinopathy
  12. Known brain metastases
  13. History of hemoptysis or active GI bleeding within 6 month prior to day of randomization
  14. Evidence of bleeding diathesis or significant coagulopathy (in the absence of therapeutic anticoagulation).
  15. History of abdominal fistula or gastrointestinal perforation.
  16. Current signs and symptoms of bowel obstruction
  17. Uncontrolled active infection

Relevance to patient case: definitely relevant
Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: Study to Assess Prevalence of BRCA1 and BRCA2 Mutation Among Ovarian, Primary Peritoneal and Fallopian Tube Cancer Patients in India

Summary: This is a non-interventional, cross-sectional, multicentre, observational study planned to be conducted at 15 sites across all geographical regions of India. The study targets to enrol 240 patients with approximately 16 patients from each site. Written approval of Independent Ethics Committee (IEC)/ Institutional Review Board (IRB) and written informed consent from willing patients will be obtained prior to the start of the study.

Detailed description: This is a non-interventional, cross-sectional, multicentre, observational study to be conducted at 15 sites from different geographical regions across India. The study targets to enrol 240 patients with nearly 16 patients per site over 6 months. The study will enrol females with diagnosis of ovarian, primary peritoneal, or fallopian tube cancer. No study medication will be prescribed or administered as a part of study procedure.
  The study will start only after obtaining written approval of Independent Ethics Committee (IEC) / Institutional Review Board (IRB) and written informed consent of the patient.
  The study will start only after obtaining written approval of Independent Ethics Committee (IEC) / Institutional Review Board (IRB) and written informed consent of the patient. Eligible patients will undergo physical examination and data of demographics, vital signs, present/ past history of illness, family history of breast/ovarian cancer, current and previous chemotherapy regimen and current medication will be collected.

Eligibility: Inclusion Criteria:
  1. Patients who provide written informed consent
  2. Female ≥ 18 years of age
  3. Previously or newly diagnosed ovarian, primary peritoneal, or fallopian tube cancer patients.
  Exclusion Criteria:
  1. Patient with any medical condition that, in the opinion of the investigator, would interfere with safe completion of the study

Relevance to patient case: definitely relevant
Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: Abbreviated Breast MRI for Second Breast Cancer Detection in Women With BRCA Mutation Testing

Summary: Study Purpose:
  A multicenter prospective study to evaluate the outcome of second breast cancer surveillance with abbreviated breast MR (AB-MR) or ultrasound (US) in addition to annual mammography in women with BRCA1/2 mutation testing
  Study Scheme:
  -  AB-MR, US, and digital mammography will be performed on the same day and interpreted independently at baseline and then after 1 year.
  -  After completion of study, patients are followed-up for at least 1 year.

Detailed description: For women with a BRCA1/2 mutation who are treated for breast cancer, screening of remaining breast tissue with annual mammography and breast MRI is recommended. For women who met BRCA testing criteria but show an uninformative negative result or a variant of unknown significance (VUS) result, there is no established recommendation for second breast cancer surveillance.
  Abbreviated breast MRI (AB-MR) is a fast and low-cost examination that show equivalent diagnostic accuracy to that of the standardized dynamic protocol breast MRI. Breast ultrasound (US) can detect additional cancers that are occult on mammography and is indicated in high-risk patients who cannot tolerate MRI.
  The purpose of this multicenter prospective study is to evaluate the outcome of second breast cancer surveillance with AB-MR or US in addition to annual mammography in women with BRCA1/2 mutation testing.
  AB-MR, US, and digital mammography will be performed on the same day at baseline and then after 1 year and images will be interpreted independently according to the Breast Imaging Reporting and Data System (BI-RADS) by experienced radiologists. The BI-RADS category 3 or higher is defined as test-positive. The reference standard will be a biopsy or at least 1 year of follow-up.

Eligibility: Inclusion Criteria:
  -  Women aged between 25 years and 75 years with a personal history of breast cancer
  -  BRCA mutation test done (meeting any of the following criteria): 1) early-age-onset breast cancer (40 years or younger), 2) bilateral breast cancers (synchronous) 3) personal history of ovarian cancer and/or other multiple primary cancers 4) family history of breast and/or ovarian cancer in first- or second-degree relatives
  -  No symptom or sign of secondary breast cancer (no palpable mass, bloody nipple discharge, abnormal skin change, nipple retraction)
  -  Written informed consent is given
  Exclusion criteria:
  -  Initial breast cancer stage IV
  -  Bilateral mastectomy done
  -  Diagnosis of second breast cancer or regional/distant metastasis
  -  Systemic chemotherapy for any cancer
  -  Pregnant or lactating
  -  Contraindication to breast MRI with contrast enhancement

Relevance to patient case: not relevant
Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: Use of Recombinant hCG to Prevent Breast Cancer in BRCA1 and BRCA2 Carriers

Summary: Specific aim: To establish the proof of principle that treatment of "high breast cancer risk" women with recombinant human chorionic gonadotropin (r-hCG) will change their breast epithelium's high risk genomic profile to one similar to that identified in women with a history of early full first term pregnancy.

Detailed description: This study is based on the investigators preclinical data that have demonstrated that r-hCG exerts a mammary cancer preventive effect that is mediated by the induction of gland differentiation, which results in permanent changes in the genomic signature of this organ. This exploratory study will evaluate the genomic profile of breast epithelial cells obtained from random periareolar fine needle aspiration (RPFNA) specimens performed in high risk women treated for 90 days (an extra 4 weeks in a subgroup) with r-hCG. This knowledge will serve as the basis for establishing a novel genomic biomarker that will serve as a surrogate endpoint in future preventive clinical trials.
  The objective of the proposed study is to characterize the genomic profile of breast epithelial cells obtained from 35 asymptomatic high breast cancer risk nulliparous premenopausal women carriers of BRCA1 and BRCA2 deleterious mutations. Gene expression measurements and benign breast tissue specimens will be obtained at baseline (time 0), after treatment with r-hCG at 90 days (time 1), at 270 days from baseline (time 2) and (in a subgroup) at 60 weeks (+/- 4 weeks).
  The primary objective of the study is to compare the gene expression profiles of these women across the three (or four) time points and identify differentially expressed genes. The investigator is interested in comparing the expression profiles between all pairs of time points as well as across time. The comparison of profiles before and after treatment with r-hCG, both at 90 and 270 days are of particular interest. The women will receive 3x/week injections of 250 microgram r-hCG for a total of 12 weeks (an extra 4 weeks in a subgroup). Core Needle Biopsies specimens will be primarily utilized for analysis of genomic expression by cDNA microarray. In addition, a series of surrogate intermediate markers such as cytomorphologic evaluation and cell proliferation index will be analyzed.

Eligibility: Inclusion Criteria:
  -  premenopausal women
  -  BRCA1 carrier
  Exclusion Criteria:
  -  History of allergic reaction to compounds of similar chemical or biologic composition to hCG
  -  receiving medication that could interfere with the study protocol objectives (hormonal contraceptives, androgens, prednisone, thyroid hormones, insulin)
  -  previous treatment with follicle stimulating hormone for assisted reproduction
  -  uncontrolled intercurrent illness
  -  Heart disease
  -  Severe cognitive decline
  -  Psychiatric desease
  -  HIV positive
  -  Hepatitis B or C infection

Relevance to patient case: not relevant
Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: Bortezomib and Pegylated Liposomal Doxorubicin in BRCA Wild-type Platinum-resistant Recurrent Ovarian Cancer Patients

Summary: This study is a phase II clinical trial to evaluate the safety and efficacy of Bortezomib plus Pegylated liposomal doxorubicin combination therapy in a histologic type of high-grade serous carcinoma without BRCA mutation among patients with platinum-resistant recurrent ovarian cancer.

Detailed description: Subjects are dosed with Bortezomib and PLD for a maximum of 6 cycles of 4 weeks. The response rate is evaluated with CT according to RECIST criteria ver 1.1. The efficacy and safety of the drug are assessed at the time of recurrence, at the time of death, or after 24 months after the end of the study drug administration.

Eligibility: Inclusion Criteria:
  -  Patients diagnosed with epithelial ovarian cancer, fallopian tube cancer, or peritoneal cancer based on histologic findings obtained from biopsy/surgery and having a histologic type of high-grade serous cancer.
  -  In the absence of a mutation of the BRCA gene (no germline mutation should be identified, not in the case of a somatic mutation)
  -  Recurrence within 6 months after platinum-based chemotherapy.
  -  ECOG performance 2 points or less.
  -  Blood tests performed within 2 weeks of enrollment meet the following results: Neutrophil > 1,500/mm3; Platelet > 100,000/mm3; Hemoglobin > 9.0 g/dL; Total bilirubin < 1.5 x upper limit of normal (ULN); AST/ALT < 3.0 x ULN (or < 5 x ULM in case of liver metastases); Creatinine < 1.5 x ULN; Electrolytes should be within normal limits.
  -  Patients who understand the content of the study description and voluntarily agree in writing.
  -  Patients who are willing and able to adhere to the visit schedule, treatment plan, laboratory tests, and other testing procedures.
  Exclusion Criteria:
  -  Patients previously treated with three or more anticancer regimens. Maintenance therapy is not considered a separate regimen (eg> paclitaxel-carboplatin-bevacizumab therapy). In the combined chemotherapy, when one drug is subtracted due to toxicity, the regimen is not counted as a change (Eg> paclitaxel-carboplatin chemotherapy, paclitaxel was discontinued due to neurotoxicity and carboplatin alone was not considered as a change of regimen).
  -  Previous refractory to ovarian cancer chemotherapy.
  -  Patients diagnosed with other tumors other than ovarian cancer for the last 5 years (not CIS).
  -  pregnant woman.
  -  Patients with uncontrolled infection.
  -  In the case of congenital immune disease or acquired immune deficiency syndrome.
  -  Women in lactation.
  -  History with Grade 3 or higher peripheral neuropathy.
  -  History of hypersensitivity reactions to PLD or bortezomib.
  -  If the physician is judged to have any serious illness or medical condition for which the patient is not suitable for the study.
  -  Patients with confirmed BRCA somatic mutations.
  -  Patients with acute diffuse infiltrative lung disease and cardiovascular disease.

Relevance to patient case: definitely relevant
Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: A Study of Fluzoparib（SHR-3162）in BRCA1/2-mutant Relapsed Ovarian Cancer

Summary: This is a multicenter， open-label study to evluate the efficacy and safety of a novel PARP 1/2 inhibitor fluzoparib （SHR-3162）in BRCA1/2-mutant Relapsed Ovarian Cancer.

Detailed description: Fluzoparib (SHR-3162) is an orally available, small molecule inhibitor of poly-adenosine diphosphate [ADP] ribose polymerase (PARP) 1/2 being developed for treatment of BRCA1/2-mutant solid tumor. The tolerability, safety and PK of fluzoparib has been evaluated in Phase 1 study. An oral formulation is the focus of current development efforts.

Eligibility: Inclusion Criteria:
  -  Histologically confirmed diagnosis of high grade serous or Grade 2/3 endometrioid epithelial ovarian, fallopian tube, or primary peritoneal cancer；
  -  Confirmed documented BRCA1/2 mutation;
  -  Received 2~4 prior chemotherapy regimens. Non-chemotherapy regimens and maintenance therapies administered as single agent treatment will not count as a chemotherapy regimen；
  -  Relapsed/progressive disease as confirmed by radiologic assessment；
  -  Have measurable disease as defined by RECIST v1.1.
  Exclusion Criteria:
  -  Any previous treatment with a PARP inhibitor;
  -  Patient with any other malignancy which has been active or treated within the previous 5 years;
  -  Patients with symptomatic uncontrolled brain metastases;
  -  Patients unable to swallow orally administered medication.

Relevance to patient case: definitely relevant