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

Clinical trial: Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer

Summary: The overall purpose of the study is to evaluate a method for offering mutation analysis of BRCA1 and BRCA2 to all patients with newly diagnosed breast cancer, regardless of age at diagnosis and family history. Information about the study as well as pre-test genetic counseling will primarily be given in a written way. In addition to that, if a study participant wishes to, she can also receive pre-test telephone genetic counseling.

Detailed description: Study population:
  All patients with newly diagnosed breast cancer in southern Sweden are offered inclusion in the SCAN-B study at the time of diagnosis pre-surgery. If they consent to that, a part of the tumor is sent to a lab in Lund, Sweden, for research purposes (RNA sequencing etc.). Patients that are included in the SCAN-B study are eligible for inclusion in BRCAsearch, see inclusion and exclusion criteria.
  Study procedure (summary):
  1. An envelope with written information is given to the patient at the visit to the surgeon the week after surgery. This envelope contains a written genetic counseling, information about the study, an informed consent form, psychosocial questionnaires and our contact information (telephone, e-mail). The patient can contact a genetic counselor for pre-test telephone genetic counseling if she wishes to.
  2. BRCA1 and BRCA2 are analyzed by full sequencing.
  3. Non-carriers are informed about the test result with a letter. Mutation carriers and VUS (variants of uncertain significance) are telephoned and given a time for an appointment at the Department of Clinical Genetics within a week.
  4. Psychosocial self-reported questionnaires (HAD scale, EORTC QLQ-C30, EORTC QLQ-BR23) are delivered at 3 times: At invitation to the study, one month after information about test result, and one year after information about test result.

Eligibility: Inclusion Criteria:
  1. The patient is included in the SCAN-B study.
  2. The patient is recently diagnosed with an invasive breast cancer or a ductal cancer in situ.
  3. The patient has signed an informed consent form.
  Exclusion Criteria:
  1. The patient is unable to understand the written information in Swedish.
  2. The patient's psychological state, due to chronic och temporary reasons, is such that one could suspect that information about the study or genetic testing could be substantially detrimental to the psychological well-beeing.

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

Clinical trial: Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study

Summary: Randomized controlled trial to look at early complications, cosmetic outcome, patient satisfaction and thickness of the tissue overlying the implant at the lower pole in immediate implant based breast reconstruction after Skin or Nipple Sparing Mastectomy with either a mesh (TiLOOP Bra) or an ADM (Protexa). Multicenter austrian trial with four breast cancer centers, 50 patients randomized 1:1 in the TiLoop or Protexa group.


Eligibility: Inclusion Criteria:
  -  breast cancer patients with indication for skin or nipple sparing mastectomy
  -  BRCA1/2 mutation carriers with indication for skin or nipple sparing mastectomy
  Exclusion Criteria:
  -  prior local radiotherapy
  -  inflammatory breast cancer

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

Clinical trial: Women at Risk of Breast Cancer and OLFM4

Summary: Does the olfactomédine provide an help to limit the number of false positives in the overall imaging balance and limit the number of unnecessary biopsies?

Detailed description: About 5% of breast cancers are associated with the presence of a constitutional genetic alteration. Two genes are being studied: BRCA1 and BRCA2.
  The national program for breast cancer screening target women 50 to 74 years but does not include women with significant risk factors. However in identifiable risk situations, breast cancer incidence is increased: and it affects 1 in 4 women with certain risk histological lesions and more than 1 in 2 women carrying a mutation in the BRCA1 or BRCA2 gene.
  Studies have shown that the olfactomédine 4 (OLFM4) is highly overexpressed in tumors compared to healthy tissue. The OLFM4 might therefore be a marker for early detection of breast cancer. We wish to determine the positive predictive value of OLFM4 seric dosing of patients at risk with respect to imaging.

Eligibility: Inclusion Criteria:
  -  Age > or = 18 years
  -  High risk women of breast cancer occurrence defined by the following criteria:
  -  Women carrying a genetic mutation BRCA1 or 2 or TP53, entering or already in screening breast IRM
  -  Women with a high probability of hereditary predisposition to breast cancer (20% risk at 70 years of breast cancer by BOADICEA model), assessed by the onco-geneticists
  -  Information of the person and signing the informed consent
  Exclusion Criteria:
  -  Women with a history of breast cancer or in situ
  -  Person who is not affiliated to a social security scheme or beneficiary of such a regime

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

Clinical trial: Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation

Summary: Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non contributive. As somatic cancer genes are limited, the hypothesis is that the targeted next-generation sequencing of 200 genes, selected for their implications in cancers may contribute to the understanding of many selected patients' presentation by the identification of germline deleterious mutations, and may identified phenotype overlapping and/or mosaicisms. The focus will be put on early-onset breast, ovarian, colorectal cancer or pediatric cancers and multiple primary tumors.


Eligibility: Inclusion Criteria :
  -  Older than 18 or parental agreement in case of children.
  For patient with early-onset breast cancer :
  -  Invasive breast cancer, regardless of histological type or stage, diagnosed before 31 years.
  -  Sporadic or familial presentation
  -  No genomic alterations of BRCA1, BRCA2 or TP53
  For patient with early-onset ovarian cancer :
  -  Invasive ovarian cancer, regardless of histological type or stage, diagnosed before 41 years.
  -  Sporadic or familial presentation
  -  No genomic alterations of BRCA1, BRCA2
  Patient with early-onset colorectal cancer :
  -  Invasive colorectal cancer diagnosed before 31 years.
  -  Sporadic or familial presentation
  -  No genomic alteration of MSH2, MLH1 or MSH6 in case of HNPCC presentation
  -  No genomic alteration of APC, MUTYH, SMAD4, BMPR1A, PTEN or STK11 in case of adenomatous polyposis or hamartoma presentation
  Patient with pediatric cancer :
  -  Non haematological tumour diagnosed before 16 years, with Li-Fraumeni presentation.
  -  No genomic alteration of TP53
  Patient with Multiple primary malignant tumours :
  -  Multiple synchronous or metachronous primary malignant tumors with early-onset
  -  No syndromic presentation
  Exclusion Criteria:
  -  Any already known deleterious mutations according to the patient's phenotype

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

Clinical trial: ARIEL4: A Study of Rucaparib Versus Chemotherapy BRCA Mutant Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Patients

Summary: The purpose of this study is to determine how patients with ovarian, fallopian tube, and primary peritoneal cancer will best respond to treatment with rucaparib versus chemotherapy.

Detailed description: Rucaparib is an orally available, small molecule inhibitor of poly-adenosine diphosphate [ADP] ribose polymerase (PARP) being developed for treatment of ovarian cancer associated with homologous recombination (HR) DNA repair deficiency (HRD). The safety and efficacy of rucaparib has been evaluated in several Phase 1 and Phase 2 studies. An oral formulation is the focus of current development efforts. Rucaparib is currently being investigated as monotherapy in patients with cancer associated with breast cancer susceptibility gene 1 (BRCA1) or BRCA2 mutations.
  While PARP inhibitors have demonstrated consistent robust clinical activity in patients with relapsed ovarian cancer associated with HRD, prospective studies evaluating efficacy and safety of PARPi versus standard of care chemotherapy have been limited. The primary purpose of this Phase 3 study is to compare the efficacy and safety of rucaparib versus chemotherapy as treatment for relapsed ovarian cancer in patients with a deleterious BRCA1/2 mutation in their tumor.

Eligibility: Inclusion Criteria:
  -  Be 18 years of age at the time the informed consent form is signed
  -  Have a histologically confirmed diagnosis of high-grade serous or Grade 2 or Grade 3 endometrioid epithelial ovarian, fallopian tube, or primary peritoneal cancer
  -  Received ≥ 2 prior chemotherapy regimens and have relapsed or progressive disease as confirmed by radiologic assessment
  -  Have biopsiable and evaluable disease. Note: biopsy is optional for patients known to harbor a BRCA1/2 mutation
  -  Have sufficient archival formalin-fixed paraffin-embedded (FFPE) tumor tissue available for planned analyses
  Exclusion Criteria:
  -  History of prior cancers except for those that have been curatively treated, with no evidence of cancer currently (provided all chemotherapy was completed >6 months prior and/or bone marrow transplant >2 years prior to first dose of rucaparib).
  -  Prior treatment with any PARP inhibitor
  -  Symptomatic and/or untreated central nervous system metastases
  -  Pre-existing duodenal stent and/or any other gastrointestinal disorder or defect that would, in the opinion of the Investigator, interfere with absorption of rucaparib
  -  Women who are pregnant or breast feeding
  -  Hospitalization for bowel obstruction within 3 months prior to enrollment

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

Clinical trial: Prevalence of BRCA1 and BRCA2 Mutations in Ovarian Cancer Patients in the Gulf Region

Summary: A prospective, multi-centre, epidemiological observational study designed to evaluate the prevalence of BRCA1 and BRCA2 (BReast CAncer gene) mutations in current and newly diagnosed ovarian cancer patients across different countries in the Gulf region. This study will also describe the epidemiological features for the disease for the enrolled patients.


Eligibility: Inclusion Criteria:
  1. Subjects willing to sign the informed consent form (ICF)
  2. Female subjects 18 years of age or older
  3. Have histologically confirmed diagnosis of Federation of Gynecology and Obstetrics (FIGO) ovarian epithelial, primary peritoneal cancer made by one or more of the following:
  1. Standard staging laparotomy including bilateral salpingo-oophorectomy,omentectomy, and lymph node sampling and debulking and/or
  2. Surgical resection and radiographic evidence consistent with ovarian cancer
  3. Paracentesis or biopsy with radiographic evidence consistent with ovarian cancer(normal appearing pancreas, liver, and gastrointestinal tract).
  4. Have availability of paraffin-embedded archived tumor tissue block (preferred) or, if a block is not possible, a minimum of twenty 10-um sections.
  Exclusion Criteria:
  Patients who meet any of the following criteria are ineligible to participate in the study and hence will not be consented:
  1. The diagnosis is not of a primary ovarian cancer; thus, patients will be excluded if a previous cancer has metastasized to the ovary, or if there is a secondary malignancy that is associated with the ovarian cancer.
  2. Is not able or willing to provide written informed consent.
  3. Have a diagnosis of other severe acute or chronic medical or psychiatric conditions that may increase the risk associated with study participation or may interfere with the interpretation of the study.
  4. Be a patient who, in the judgment of the Investigator, would be inappropriate for enrollment in this study.
  A rationale will be documented for all patients who are screened and ultimately excluded from the study as a result of meeting any of the aforementioned exclusion criteria

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

Clinical trial: Genes Contributing to Hereditary Ovarian Cancer in Women and BRCA1/2 Wildtype Families

Summary: The investigators propose to test for non-BRCA1/2 mutations in new and existing families with hereditary ovarian cancer in order to better define penetrance and associated malignancies of rare ovarian cancer susceptibility genes. The hypothesis is at least one third of hereditary ovarian carcinoma families wildtype for BRCA1/2 can be solved using an updated version of BROCA (BROCA-HR) that targets 47 genes, including all known ovarian cancer genes and additional candidate genes in related pathways. The objective is to identify families with mutations in rare ovarian cancer susceptibility genes and test both affected and unaffected family members, thereby generating a rough estimate of penetrance for each mutated gene as well as identify new ovarian cancer susceptibility genes. The investigators also plan to enroll self identified African America women, who have been drastically under-represented in clinical cancer genetic testing programs and in OC susceptibility research.

Detailed description: There is more to hereditary ovarian cancer than the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 (BRCA1/2). Next generation sequencing techniques have made it possible to sequence multiple candidate ovarian carcinoma susceptibility genes simultaneously. The King Laboratory has developed a targeted capture and massively parallel sequencing test called BROCA to evaluate mutations in known or suspected breast and ovarian cancer genes. In a prospective series of 360 unselected women with ovarian carcinoma, the investigators found that nearly one fourth of women carried mutations in one of 13 genes, and mutations in genes other than BRCA1 and BRCA2 accounted for 26% of all inherited mutations. While BROCA and similar gene panels are already in clinical use, little is known about the relative risks of carrying these non-BRCA1/2 mutations, making it difficult to counsel unaffected family members and develop optimum prevention protocols.

Eligibility: Inclusion Criteria:
  -  ovarian cancer diagnosis with secondary criteria as noted above
  Exclusion Criteria:
  -  age less than 18 yrs

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

Clinical trial: Plasma ctDNA Detection in Diagnosis of Epithelial Ovarian Cancer.

Summary: Epithelial ovarian cancer constitutes one of the most common gynecological malignancies.Because the ovaries lie in the deep pelvic cavity,most ovarian cancer patients are asymptomatic, rendering the majority often diagnosed at an advanced stage.ctDNA in cancer patients often bears similar genetic and epigenetic features to the related tumor DNA.This study aims to detect plasma ctDNA in Diagnosis of Epithelial Ovarian Cancer.

Detailed description: Epithelial ovarian cancer constitutes one of the most common gynecological malignancies, with an incidence rate of 3-12/100 000 woman per year. Because the ovaries lie in the deep pelvic cavity,most ovarian cancer patients are asymptomatic, rendering the majority often diagnosed at an advanced stage. Liquid biopsy, which is meant to detect cancers by sequencing the DNA in a few drops of a person's blood. It may detect cancers early, even before symptoms arise, when there is just a few cells in the blood circulation.
  ctDNA in cancer patients often bears similar genetic and epigenetic features to the related tumor DNA. There is evidence that some of the ctDNA originates from tumor tissue. This, and the fact that ctDNA can easily be isolated from the circulation and other body fluids of patients, makes it a promising candidate as a non-invasive biomarker of cancer.
  This study aims to detect plasma ctDNA in Diagnosis of Epithelial Ovarian Cancer.

Eligibility: Inclusion Criteria:
  -  people aged 18years to 80years;
  -  Diagnosis of ovarian cancer is confirmed by two Pathologists independently;
  -  Pregnancy tests are negative.
  Exclusion Criteria:
  -  With other type of malignancies;
  -  someone who refuse to participate the study.

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

Clinical trial: Homologous Recombination Inquiry Through Ovarian Malignancy Investigations

Summary: To investigate the frequency and clinical significance of Homologous Recombination Deficiency (HRD) in Japanese patients with ovarian cancer (including Fallopian tube cancer and primary peritoneal cancer).

Detailed description: In this study, investigators plan to clarify the frequency of Homologous Recombination Deficiency (HRD) in Japanese patients with ovarian cancer (including fallopian tube cancer and primary peritoneal cancer).
  And investigators will also investigate whether HRD-positive ovarian cancer patients show the clinical characteristics of highly platinum-sensitivity and good prognosis, comparing to HRD-negative ovarian cancer patients.
  In addition, it is planned to investigate any association between Progression Free Survival (PFS) / Platinum-Sensitivity and germline mutation in Breast Cancer Susceptibility Gene (BRCA1/2 gene) in ovarian cancer patients who can provide the patients' gBRCA1/2 gene information for this study.

Eligibility: Inclusion Criteria:
  1. Patients who can approve informed consent and sign it. Patients who show their will to participate in this study and can sign the informed consent forms by themselves.
  2. Patients who are clinically diagnosed as having ovarian cancer and can provide written informed consent before the surgery.
  3. Patients who can provide tumor tissue specimens. (except ascites cytology and cell block specimens)
  4. Patients who are 20 years old and over at the enrollment.
  5. Patients with ECOG Performance status (PS): 0-2.
  Exclusion Criteria:
  1. Patients with active concomitant malignancy* except breast cancer.
  *Includes synchronous multiple cancer and metachronous multiple cancer with less than 5 years of disease free survival. However, excludes skin basal cell carcinoma, skin squamous cell carcinoma, and any other curable lesions with local therapy such as carcinoma in situ or intramucosal carcinoma.
  2. Patients who are diagnosed as any other acute/chronic, physically/mentally severe diseases and judged by the primary physician as inappropriate to enroll this study because of safety reasons or any influence to study outcomes.
  3. Any other cases that are inappropriate to enroll this study, judged by study principal investigator.

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

Clinical trial: Management of Women With BRCA1/2 Mutation

Summary: The aim of this study is to determine general practitionners' role in management of women with BRCA1/2 mutation.
  This study will be conduct between April 2017 and December 2017 at Montpellier University Hospital on women followed-up in the department of genetics and their general practitionners (GP). Patients and their GP will be called by the investigators and questionnaire will be given to them. Questionnaire includes questions for patients and their GP. The primary endpoint was to determine the rate of GP having sufficient knowledge of the adequate management of patients with BRCA1 / 2 mutation. Adequate knowledge includes : systematic search for a family history of cancer, knowing criteria required to refer women in oncogenetic department, and the ability to respond to patients' questions. Secondary endpoint was to determine women' opinion on their GP : whether or not well managed for their BRCA 1 / 2 mutation.

Detailed description: PURPOSE: The aim of this study is to determine general practitionners' role in management of women with BRCA1/2 mutation.
  METHODS:
  This study will be conduct between April 2017 and December 2017 at Montpellier University Hospital on women followed-up in the department of genetics and their general practitionners (GP). Patients and their GP will be called by the investigators and questionnaire will be given to them. Questionnaire includes questions for patients and their GP. The primary endpoint was to determine the rate of GP having sufficient knowledge of the adequate management of patients with BRCA1 / 2 mutation. Adequate knowledge includes : systematic search for a family history of cancer, knowing criteria required to refer women in oncogenetic department, and the ability to respond to patients' questions. Secondary endpoint was to determine women' opinion on their GP : whether or not well managed for their BRCA 1 / 2 mutation.

Eligibility: Inclusion criteria
  -  Aged over 18
  -  Women
  -  Living in France
  -  Having a medical insurance
  Exclusion criteria
  -  Men
  -  Dementia
  -  Non frenchspeaker
  -  Mental retardation
  -  Being the subject of a guardianship or tutelage measure

Relevance to patient case: not relevant