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

Clinical trial: Phase II Study of AZD2281 in Patients With Known BRCA Mutation Status or Recurrent High Grade Ovarian Cancer or Patients With Known BRCA Mutation Status/ Triple Neg Breast Cancer

Summary: This is a Phase II, open label, non randomized correlative study of AZD2281 in patients with recurrent breast and ovarian cancer in both BRCA inherited mutation carriers and non-carriers to identify objective response rate and to assess for early markers of activity and to assess correlative markers that may provide helpful information for subsequent clinical trials. Approximately 110 patients from 7 centers in Canada will be enrolled into this study.


Eligibility: Inclusion Criteria:
  -  Histologically confirmed high grade serous and/or undifferentiated carcinoma of ovary, fallopian tube or peritoneum
  -  Oestrogen, progesterone and HER2 negative advanced adenocarcinoma of the breast
  -  Known BRCA positive breast cancer or ovarian cancer, that is not high grade serous or undifferentiated tubo-ovarian carcinoma.
  -  Performance status of no more than 2.
  Exclusion Criteria:
  -  Any chemotherapy, radiotherapy ( except palliative), endocrine or immunotherapy within 4 weeks prior to entry
  -  Major surgery with 4 weeks of entering the study and must have recovered from effects of any major surgery .

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

Clinical trial: Awareness and Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis for Inherited Breast/Ovarian Cancer Risk

Summary: We are inviting you to participate in a study of how people who have had genetic counseling for breast/ovarian cancer risk feel about certain reproductive technologies, preimplantation genetic diagnosis (PGD) and prenatal genetic diagnosis (PND), that may reduce the chances of passing increased risk onto one's children. We would also like feedback from patients who have been to our clinic in the past on the best ways to talk about PGD and PND during genetic counseling sessions. We are seeking both the opinions of people who are interested in these technologies and those who are not. It does not matter whether you have heard of PGD or PND before - you can still participate. Your past experience with genetic counseling is valuable to us in deciding how to communicate this information during sessions.


Eligibility: Inclusion Criteria:
  -  Females and males who are carriers of deleterious mutations in the genes BRCA1 or BRCA2.
  -  Over age 18 and:
  1. For women, less than 43
  2. For men, less than 50.
  -  Received genetic testing and counseling for BRCA.
  -  Fluent in English.
  Exclusion Criteria:
  -  Patients who are currently under treatment (chemotherapy, radiation)
  -  Individuals who refuse to discuss reproductive issues.
  -  Unable to give informed consent due to physical, cognitive, or psychiatric disability

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

Clinical trial: Study of Genes and the Environment in Patients With Ovarian 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 for cancer and interactions between genes and the environment in patients with ovarian cancer.

Detailed description: OBJECTIVES:
  -  To obtain epidemiological information and biological material on a population-based series of ovarian cases.
  -  To define the proportion of ovarian cancer incidence attributable to mutations in known predisposing genes (e.g., BRCA1 and BRCA2).
  -  To determine the risk associated with predisposing mutations by examining the cancer risks 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 ovarian cancers occurring in BRCA1/2 mutation carriers as compared with that in noncarriers.
  -  To establish whether mutations at other loci may predispose to ovarian cancer by comparing the frequency of alterations in ovarian cancer patients with that 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 on 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 ovarian cancer patients recruited for this study, patients with breast, endometrial, 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-ENDOMETRIAL, MREC-SEARCH-PROSTATE, MREC-SEARCH-COLORECTAL, and MREC-SEARCH-CANCER.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of ovarian cancer within the past 5 years
  -  Identified through the East Anglia, Stoke and West Midlands Cancer Registries serving 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: definitely relevant
Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: Thymidine Kinase 1 in Risk Assessment for Hereditary Breast /Ovarian Cancer

Summary: This study aimed to compare the activity of Thymidine Kinase 1 in serum of two groups of woman at high and normal risk for breast/ovary cancer.

Detailed description: Hereditary breast/ovarian cancer syndrome is associated with mutations in tumor suppressor BRCA1 and BRCA2 genes. Products of these genes play an important role in the repair of DNA double-strand breaks. Mutations in BRCA1 and BRCA2 genes could impair DNA repair. In resting or G1 cells, where the de novo synthesis of DNA precursors is absent, the salvage pathway is the sole provider of deoxyribonucleotides to be used in DNA repair. For this process a sufficient supply of deoxynucleotides and activity of Thymidine Kinase 1 are essential. TK1 is an important component of adaptive response of cells to DNA damage. Mutations in genes directly engaged in the DNA repair process could lead to the accumulation of DNA damage and in turn cause an adaptive cell reaction manifesting as permanently increased Thymidine Kinase 1 activity.
  A recently developed new high-sensitive assay DiviTum® allows to investigate the contribution of this enzyme to DNA repair processes and to make a comparison of Thymidine kinase 1 activity in women with normal and impared DNA repair system.

Eligibility: Inclusion Criteria:
  -  women from family with more than two breast cancer cases and one or more cases of ovarian cancer diagnosed at any age;
  -  women from family with more than three breast cancer cases diagnosed before the age 50;
  -  women from family withsister pair in which one of the following combinations was diagnosed before the age of 50: two breast cancers, two ovarian cancers, or a breast and ovarian cancer.
  Exclusion Criteria:•
  -  pregnant women;
  -  women with generalized CMV and HZV infections;
  -  women with severe B12 deficiency and megaloblastic anaemia;
  -  women with severe rheumatoid arthritis.

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

Clinical trial: Individualized Treatment Based on Epidermal Growth Factor Receptor Mutations and Level of BRCA1 Expression in Advanced Adenocarcinoma

Summary: This is a pharmacogenic, prospective, and multicenter study in patients with advanced lung adenocarcinoma.

Detailed description: Pharmacogenomic study, prospective, multicenter. Individualized treatment based on EGFR mutations and level of BRCA1 expression in patients with advanced lung adenocarcinoma

Eligibility: Inclusion Criteria:
  -  Patients age 18 years or more.
  -  Histologically confirmed diagnosis of non-small-cell lung carcinoma.(and indifferentiated and BAC histology).
  -  Only patients with advanced disease, defined as stage IV or IIIB with/without pleural effusion, will be included.
  -  Tumor sample available.
  -  A measurable lesion, as defined by RECIST criteria.
  -  Karnofsky score 60% or more (ECOG < 2).
  -  Patients should not have received previous treatment with chemotherapy or other agents for disseminated disease. Chemotherapy is allowed if the initial diagnosis of the patient is limited disease and the patient has received adjuvant or neoadjuvant treatment.
  -  Patients with cerebral disease are permitted, without any time limitations after holocranial irradiation or complementary antiedema treatment.
  -  Patients with hepatical, renal and hematology normality values.
  -  Patients should sign an informed consent form before inclusion in the study that specifies that the clinical trial treatment entails consent for the analysis of biological samples of tumor and blood.
  -  Patients of childbearing age of either sex must use effective contraceptive methods (barrier methods or other birth control methods) before entering the study and while participating in the study.
  -  Patients must be available for clinical follow-up..
  Exclusion Criteria:
  -  Patients who have received an investigational medicinal product in the 21 days before inclusion in the study or antiEGFR receptor agent.
  -  Severe comorbidity.

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

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: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: Studying Biomarkers in Patients With Pancreatic Cancer

Summary: RATIONALE: Studying samples of tissue in the laboratory from patients with cancer may help doctors identify and learn more about biomarkers related to cancer. It may also help doctors predict how patients will respond to treatment.
  PURPOSE: This research study is studying biomarkers in patients with pancreatic cancer.

Detailed description: OBJECTIVES:
  -  To determine whether the cellular localization of BRCA1 can predict how patients with pancreatic cancer will respond to cytotoxic agents (e.g., fluorouracil or gemcitabine hydrochloride) or radiotherapy.
  -  To identify pre-treatment markers that can be used to correlate with clinical outcomes of survival and recurrence.
  -  To determine if a method of extracting and identifying secreted cytokines and growth factors from biopsy tissue can now be applied to the pancreatic cancer population.
  OUTLINE: Tissue samples from biopsies performed during pancreatectomy are collected from the Vanderbilt Ingram Cancer Center Human Tissue Acquisition Core for laboratory biomarker studies. Proteins secreted by cancer cells and/or cancer-associated cells are studied by extracting and identifying secreted cytokines and growth factors from biopsy tissue. The integrity of the DNA repair pathway in pancreatic cancer is analyzed by Rad51 and phosphorylated DNA-PK foci formation. Markers are correlated with clinical outcome.
  Patients are followed for recurrence, relapse, and death from disease.

Eligibility: Inclusion criteria
  -  Any subject with excess tissue collected at time of routine surgery for pancreatic cancer is eligible.
  -  All subjects participating in this protocol will be followed for recurrence, relapse and death from disease

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

Clinical trial: Study of Blood Samples From High-Risk Postmenopausal Women Who Received Treatment on Breast Cancer Prevention Clinical Trials NSABP-P-1 or NSABP-P-2

Summary: RATIONALE: Studying the genes expressed in 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 research study is looking at blood samples from high-risk postmenopausal women who received treatment on breast cancer prevention clinical trials NSABP-P-1 or NSABP-P-2.

Detailed description: OBJECTIVES:
  Primary
  -  To identify genes associated with breast events (i.e., the occurrence of invasive breast cancer or ductal carcinoma in situ), in terms of single-nucleotide polymorphisms (SNPs) in a genome-wide association study, in Caucasian women at high risk of developing breast cancer who have received a selective estrogen receptor modulator (SERM) (i.e., tamoxifen or raloxifene) on the NSABP-P-1 OR NSABP-P-2 breast cancer prevention clinical trials.
  -  To determine the impact of CYP2D6 metabolizer status, which includes genotype and status of concurrent use of CYP2D6 inhibitors, on breast cancer events in participants receiving either tamoxifen or raloxifene.
  Secondary
  -  To explore whether multiple SNPs within a region are independently associated with a breast event.
  -  To explore whether there are interactions among SNPs that increase the risk for a breast event.
  -  To explore whether there is interaction of any SNPs identified in the primary objective with randomized treatment, in terms of the risk for a breast event.
  -  To identify rare variants that might affect estrogen-dependent expression of chromosomes (CTSO) 4 and 16 (ZNF423) and/or the relationship to BRCA1 expression.
  OUTLINE: Samples are stratified according to CYP2D6 genotype and CYP2D6 metabolizer status.
  DNA extracted from previously collected blood samples is analyzed in a genome-wide association study and compared with 2 control samples from patients who did not experience a breast event. DNA samples are used to identify and analyze single nucleotide polymorphisms.
  Also, exploratory analyses are conducted examining the impact of CYP2D6 metabolizer status on breast cancer events according to invasive vs non-invasive disease, ER status, PgR status, histologic type, and TMN stage.

Eligibility: DISEASE CHARACTERISTICS:
  -  Meets 1 of the following criteria:
  -  Previously treated on the NSABP-P-1 Breast Cancer Prevention clinical trial
  -  Caucasian women that did or did not experience an invasive breast cancer or ductal carcinoma in situ (DCIS)
  -  At least 50 years of age at time of entry to P-1
  -  Previously treated on the NSABP-P-2 Breast Cancer Prevention clinical trial
  -  Caucasian women that did or did not experience an invasive breast cancer or DCIS
  -  Hormone receptor status not specified
  PATIENT CHARACTERISTICS:
  -  Postmenopausal status
  PRIOR CONCURRENT THERAPY:
  -  See Disease Characteristics

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

Clinical trial: The Potential for Oral Diindolylmethane (DIM) Supplementation to Increase the Production of the BRCA1 Protein in BRCA1 Mutation Carriers

Summary: Women with a BRCA1 mutation face a lifetime risk of breast cancer of approximately 70% and a lifetime risk of ovarian cancer of approximately 40%. A number of potential anti-cancer nutrients have been proposed, however, it is important that diet supplements be evaluated prior to general recommendation.
  The risk of breast and ovarian cancer in carriers of a BRCA1 mutation might be lowered by some nutritional supplements. For example, green tea, broccoli and vitamin D are of potential interest. One dietary supplement that is thought to have potential for BRCA1 carriers is diindolylmethane (DIM), which is an active ingredient in broccoli and other green vegetables. DIM - is found in vegetables like broccoli and is available as a supplement in health food stores. The investigators think that DIM may increase the production of the normal copy of BRCA1 and offset the effect of the mutation.
  The purpose of this study is to determine that there is a potential for oral DIM supplementation to result in the increased production of the BRCA1 protein in BRCA1 mutation carriers. The results of the study will also serve as an evaluation of the current use and success of preventive strategies for BRCA1 mutation carriers.


Eligibility: Inclusion Criteria:
  -  Carriers of a mutation in the BRCA1 gene
  -  Non-carriers of a mutation in the BRCA1 gene who come from a family with a BRCA1 mutation (a family in which at least one individual has tested positive for a BRCA1 mutation)
  -  Can participate after being free of DIM supplementation for one month
  Exclusion Criteria:
  -  Have a personal history of cancer
  -  Currently pregnant or breast-feeding

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

Clinical trial: Genetic & Pathological Studies of BRCA1/BRCA2: Associated Tumors & Blood Samples

Summary: The purpose of this study is to try to understand the biology of development of breast, ovarian, fallopian tube, peritoneal or endometrial cancer from persons at high genetic risk for these diseases. The influence of environmental factors on cancer development in individuals and families will be studied. The efficacy of treatments for these diseases will be evaluated.

Detailed description: 1. To establish a demographic database to evaluate the efficacy of medical interventions in patients and relatives who carry BRCA1 and 2 mutations and to compare these outcomes to patients who do not carry a BRCA1 or 2 mutation.
  2. To obtain blood samples from patients who undergo genetic testing to a) evaluate the incidence of genetic modifier polymorphisms involved in the development of cancer in BRCA1 and 2 mutation carriers and to compare this incidence to non-BRCA 1 and 2 carriers. b) to understand the interaction of genetic modifiers and BRCA1 and 2 in the development of cancer. c) to determine the effect of environmental influences on the incidence of polymorphisms in genetic modifiers and on the penetrance of BRCA1 and 2 mutations by linking information from our demographic database to blood samples and
  3. To obtain tumor tissue from BRCA1 and 2 carriers to utilize for gene expression studies.
  4. To establish a cohort of sporadic breast cancer patients, or women with no family history of cancer in a first degree relative, to serve as a comparison group to women with strong family history of breast cancer.
  5. To establish a cohort of healthy volunteers without personal or family history of cancer to serve as a comparison group to women with sporadic and familial breast cancer.

Eligibility: Inclusion Criteria:
  I. Women who have a high risk of developing breast or ovarian cancer due to a known germline mutation in the BRCA1/2, PTEN, CDH1, or TP53 cancer susceptibility genes, or due to strong family history of either breast or ovarian cancer, in the absence of known cancer susceptibility gene mutation.
  II. Women who are approaching surgery for resection of a pelvic mass, which is considered suspicious for neoplasia by radiologic or clinical criteria; such women may or may not also meet criteria for inclusion in group I.

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

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: possibly relevant