araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: Genetic Characterisation of High-grade Paediatric Osteosarcomas

Summary: At present, the only recognised prognostic factor for primary high-grade osteosarcoma is the histological response to preoperative chemotherapy. Our study was designed to identify new diagnostic markers that could eventually have a prognostic value and therapeutic consequences. 80 patients under 20 years of age with primary osteosarcomas were studied while under treatment by the French Society of Paediatric Oncology OS 94 protocol. Paired normal and biopsy samples were collected. In addition, surgical resection specimens, following preoperative chemotherapy, were obtained in many cases. After genomic DNA extraction, an allelotyping analysis targeting microsatellites was planned. The studied DNA regions contained mainly Rb, p53, APC, p16, c-met, TWIST, c-kit, erbB2 and topoisomerases genes. The techniques used in this molecular analysis comprised mainly allelotyping study, quantitative real-time PCR, gene sequencing , immunohistochemistry. The first results showed the prognostic value of 7q31 region containing c-met and 5q21 containing APC (Br J Cancer, 2003, Entz-Werlé et al.), 7p21 containing TWIST (Int J Cancer, 2005, Entz-Werlé et al.) and 4q21 targeting c-kit gene (J Clin Oncol, 2005, Entz-Werlé et al.).


Eligibility: Inclusion Criteria:
  -  Patients under 20 years of age with primary osteosarcomas
  -  Under treatment by the French Society of Paediatric Oncology OS 94 protocol

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: Open Label Study of Postmenopausal Women With ER and /or PgR Positive Breast Cancer Treated With Letrozole

Summary: To evaluate safety and efficacy (measured by clinical tumor response) of letrozole daily dose, 2.5 mg in postmenopausal patients with primary (untreated) breast cancer.


Eligibility: Inclusion Criteria:
  1. Postmenopausal woman able to comply with the protocol requirements with primary invasive breast cancer, histologically confirmed by core needle biopsy, whose tumors are estrogen (ER) and / or progesterone (PgR) positive, defined by core biopsy immunohistochemistry with > 10% positive malignant epithelial cells.
  2. Clinical stage *T2, T3, T4a,b,c, N0, 1 or 2, M0
  -  Clinical stage T2 tumors which in the Investigators opinion would not be eligible for breast-conserving surgery.
  3. Post menopausal status defined by one of the following:
  -  No spontaneous menses for at least 1 year, in women > 55 years.
  -  Spontaneous menses within the past 1 year but amenorrhoeic in women ≤ 55 years (e.g. spontaneous or secondary to hysterectomy), and with postmenopausal gonadotrophin levels (LH y FSH levels > 40 IU/L) or postmenopausal estradiol levels (< 5 ng/dl) or according to the definition of "postmenopausal range" for the laboratory involved.
  -  Bilateral oophorectomy. (Prior to the diagnosis of breast cancer).
  4. Tumor measurable by clinical examination, mammography and ultrasound.
  Exclusion Criteria:
  1. Prior treatment with letrozole or tamoxifen.
  2. Uncontrolled endocrine disorders such as diabetes mellitus, confirmed hypo- or hyperthyroidism, Cushing's Syndrome, Addison's disease (treated or untreated).
  3. Patients with unstable, angina, or uncontrolled cardiac disease (e.g. Class III or IV New York Heart association's Functional Classification).
  4. Patients with bilateral breast tumors
  5. Patients who are eligible for breast conserving surgery
  6. Evidence of inflammatory breast cancer or distant metastasis.
  Other protocol-defined inclusion/exclusion criteria may apply.

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: Ultrasound and Chemotherapy of Breast Cancer: Relationship Between Early Vascular Changes of the Tumor and Late Tumoral Response

Summary: This study intends to assess the ability of contrast-enhanced ultrasound to make the efficacy of chemotherapy in breast cancer precise.
  This real-time noninvasive and feasible imaging technique allows us, the investigators at University Hospital Tours, to evaluate early vascular changes of breast tumors during treatment. These vascular changes may precede long-term tumoral regression. Imaging of primary breast lesions may be of value in the prediction of late treatment response.
  An ultrasound will be performed before the initiation, and after the second and the last dose of chemotherapy.
  To investigate the changes occurring in the vascularization of tumors, we will use an intravascular ultrasound contrast agent SonoVue (sulphur hexafluoride microbubbles).
  This agent is a microbubbles preparation that is stable, resistant to pressure, and specifically designed to be used as a contrast agent for ultrasound imaging of angiogenesis.

Detailed description: The main objective of the study is to evaluate the early vascular changes of the tumor during neoadjuvant chemotherapy compared to the clinical or MRI or histological response.

Eligibility: Inclusion Criteria:
  -  Breast tumor (size equal to or greater than 3 cm.). Patients with diagnosis of benign breast tumor based on biopsy will be excluded from the study after the first ultrasound examination.
  -  Neoadjuvant chemotherapy is programmed when an epithelial carcinoma is diagnosed by histology.
  -  Performance status = 0, 1 or 2
  -  No previous surgery or local radiotherapy
  Exclusion Criteria:
  -  Psychiatric disorders
  -  Vital threat due to other disease
  -  Vital prognosis < 3 months
  -  Biopsy of the lesion performed within 1 month before the ultrasonography
  -  Patient known to have a coronary syndrome
  -  Unstable angina and myocardial infarction
  -  Acute cardiac failure, Class III/IV cardiac failure
  -  Several arrhythmias
  -  Acute endocarditis
  -  Prosthetic valves

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: Study of the Effects of Chemotherapy on Memory and Other Mental Functions in Women With Breast Cancer

Summary: Many breast cancer patients treated with chemotherapy complain of problems with concentration and memory. This has been referred to as "chemo fog". The current study is investigating this phenomenon by measuring patients' mental function prior to and after exposure to chemotherapy, and by comparing mental function in those patients who receive chemotherapy and those who do not.

Detailed description: Many breast cancer patients treated with chemotherapy complain of problems with concentration and memory. This has been referred to as "chemo fog". The current study will investigate this phenomenon by measuring neuropsychological functioning in early stage breast cancer patients prior to and after exposure to chemotherapy, and by comparing change in cognitive function in these patients who receive chemotherapy to similar breast cancer patients receiving hormonal therapy only, and to healthy women without breast cancer.

Eligibility: Inclusion Criteria:
  -  stage I or II breast cancer; woman; 50-65 years old; post-menopausal
  Exclusion Criteria:
  -  history of previous cancer or chemotherapy; significant neurological or psychiatric history

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: Protocol for Women at Increased Risk of Developing Breast Cancer

Summary: The overall goal of this project is to develop an integrative system of breast cancer risk assessment based on epidemiologic and biologic risk variables, as well as to develop or refine risk biomarkers which may be useful in predicting and monitoring response to prevention interventions.

Detailed description: 1. To correlate established risk biomarkers such as cytomorphology obtained from random periareolar fine needle aspiration ( RPFNA), mammographic breast density, serum bioavailable estradiol and IGF-1/IGFBP-3 with each other and with 5-10 year Gail risk estimates. Where available, and with appropriate safe guards to maintain status for breast cancer susceptibility genes may be included.
  2. To determine the relative predictive value of established risk biomarkers for the development of DCIS and/or invasive cancer.
  3. To evaluate potential new breast tissue-based biomarkers including Ki-67, PCNA, ER, COX-2, aromatase, methylation of key tumor suppressor genes (i.e., RAR, p16, etc), proteomic patterns in RPFNA and nipple aspirate fluid (NAF), as well as NAF hormone levels, and correlate them with other risk biomarkers listed in 1.
  4. To determine the prevalence of polymorphisms of a panel of genes important in hormone and xenobiotic metabolism as well as DNA repair and correlate these polymorphisms with established risk biomarkers listed in 1, as well as with development of DCIS and invasive cancer.
  5. To maintain contact with this initially identified cohort of high risk women, acquire demographic data, biologic specimens and data and follow them prospectively for the development.

Eligibility: Inclusion Criteria:
  -  women with at least 2 times the normal risk of developing breast cancer
  -  between the ages of 30-65 (or within 10 years of youngest age at diagnosis in first degree relative)
  -  greater than six months from ingestion of antihormonal therapy
  -  greater than 1 year from pregnancy, lactation, or chemotherapy
  -  willing to have a mammogram within six months prior to RPFNA
  -  willing to discontinue NSAIDS or herbal supplements
  -  willing to have blood drawn
  Exclusion Criteria:
  -  no metastatic malignancy of any kind
  -  no breast implants or tram flap reconstructions
  -  no radiation to both breasts
  -  no women who have a current mammogram or clinical breast exam suspicious for cancer

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: Study Evaluating HKI-272 (Neratinib) In Subjects With Advanced Breast Cancer

Summary: The purpose of this study is to learn whether neratinib is safe and effective in treating women with advanced HER2+ (human epidermal growth factor 2) breast cancer.

Detailed description: Arm A: HER2 gene amplification and disease progression following at least 6 weeks of standard doses of Herceptin; Arm B: HER2 gene amplification and no prior Herceptin or HER2-targeted treatment.

Eligibility: Inclusion Criteria:
  -  Pathologic diagnosis of breast cancer and current stage IIIB, IIIC, or IV
  -  Progression following at least 6 weeks of standard doses of Herceptin (Arm A only)
  -  Over-expression of HER2
  -  Tumor tissue available and adequate for analysis at screening
  -  At least one measurable lesion
  Exclusion Criteria:
  -  Prior treatment with Herceptin (Arm B only)
  -  More than 4 prior cytotoxic chemotherapy regimens
  -  Subjects with bone or skin as the only site of measurable disease
  -  Inadequate cardiac function
  -  Major surgery, chemotherapy, radiotherapy, investigational agents or other cancer therapy within 1 week of treatment day 1
  -  Active central nervous system metastases
  -  Pregnant or breastfeeding women
  -  Inability to swallow the HKI-272 capsules

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: A Clinical Trial to Compare Efficacy and Tolerability of Fulvestrant 250mg, 250mg Plus 250mg Loading Regimen and 500mg

Summary: This study will assess the relationship between fulvestrant dose and efficacy in postmenopausal women with oestrogen receptor positive advanced breast cancer.


Eligibility: Inclusion Criteria:
  -  Breast Cancer has continued to grow after having received treatment with an anti-estrogen hormonal treatment such as tamoxifen or an aromatase inhibitor.
  -  Requiring hormonal treatment.
  -  Postmenopausal women (woman who has stopped having menstrual periods)
  Exclusion Criteria:
  -  Treatment with more than one previous regimen of systemic anticancer therapy other than endocrine therapy for advanced BC.
  -  Treatment with more than one previous regimen of endocrine therapy for advanced BC.
  -  An existing condition that prevents compliance.

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: Arthralgia During Anastrozole Therapy for Breast Cancer

Summary: The purpose of this study is to describe the joint symptoms and structural joint changes under anastrozole as adjuvant treatment in postmenopausal women with early breast cancer.


Eligibility: Inclusion Criteria:
  -  Post menopausal woman with a breast cancer and scheduled for an adjuvant treatment with anastrozole
  -  WHO performance status 0, 1 or 2
  -  Provision of written informed consent
  Exclusion Criteria:
  -  Recurrence of breast cancer, inflammatory rheumatism
  -  treatment by chondromodulator, oral glucocorticoid, aromatase inhibitor, anti estrogen, Herceptin
  -  Diabetes treated by insulin
  -  Severe renal or hepatic disease
  -  Known hypersensitivity to anastrozole

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: Genetic Analysis of Familial Melanoma

Summary: In collaboration with members of The International Melanoma Consortium, we propose to study melanoma in families lacking mutations in the cyclin-dependent kinase inhibitor 2 (CDKN2 or p16) gene, or the cyclin-dependant kinase 4 (CDK4). CDKN2 and CDK4 are both genes that encode presumed tumor suppressor genes, mutant forms of which are known to cause increased susceptibility to melanoma. The purpose of the present study then is to confirm the existence of and to identify additional gene(s) involved in heritable melanoma (cutaneous and ocular) and their precursor lesions (atypical nevi) by linkage analysis and gene mapping strategies. It is clear that the risk to develop atypical nevi and/or melanoma is strongly influenced by genetic and environmental factors (e.g. sun exposure). Characterization of such genes could provide important insights into the inheritance, pathogenesis, and treatment of this increasingly important disease.

Detailed description: In collaboration with members of The International Melanoma Genetics Consortium, we propose to study melanoma in families lacking mutations in the cyclin-dependent kinase inhibitor 2 (CDKN2A), or the cyclin-dependant kinase 4 (CDK4) genes. CDKN2 and CDK4 are both genes that encode presumed tumor suppressor genes, mutant forms of which are known to cause increased susceptibility to melanoma. The purpose of the present study then is to confirm the existence of and to identify additional gene(s) involved in heritable melanoma (cutaneous and ocular) and their precursor lesions (atypical nevi) by linkage analysis and gene mapping strategies. It is clear that the risk to develop atypical nevi and/or melanoma is strongly influenced by genetic and environmental factors (e.g. sun exposure). Characterization of such genes could provide important insights into the inheritance, pathogenesis, and treatment of this increasingly important disease.

Eligibility: -  INCLUSION CRITERIA:
  Inclusion into this study was restricted to families containing at least three CMM cases with DNA available for genotyping, and CDKN2A and CDK4 involvement and had been excluded.
  All families must be mutation negative for both CDKN2A and CDK4.
  This study will also include families with at least one case of ocular and two cases of other cutaneous melanomas, or at least 2 ocular melanomas (except where they occur in parent and child).
  EXCLUSION CRITERIA:
  Any family showing evidence of haplotype sharing in the 9p21-p22 region, where CDKN2A is located, was also excluded.

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: Isolation and Characterization of Mammary Stem Cells

Summary: Background:
  -  Cancer stem cells in breast cancer have been identified as a small population of tumor cells whose self-renewal mechanism is highly deregulated. This deregulation seems to be necessary for cancer to develop.
  -  These cells can be identified by certain surface markers that overlap with markers associated with normal embryonic stem cells.
  Objective: To isolate tumor stem cells using the same methods generally used to isolate human embryonic stem cells.
  Eligibility:
  -  Tissue samples will be obtained from the human cooperative network.
  -  Samples will include normal tissues from individuals who have no opportunistic diseases and from individuals with cancer.
  Design: Breast cancer stem cells will be isolated, grown in the laboratory and characterized.

Detailed description: Cancers are composed of heterogeneous populations of cells with varying degrees of proliferative capacity and ability to reconstitute tumors when transplanted into nude or SCID mice.
  Recently, cancer stem cells have been identified as a small population of tumor cells which possess the stem cell properties in that their self-renewal pathway is highly deregulated. This deregulation seems to be the prerequisite for the development of cancer.

Eligibility: -  INCLUSION CRITERIA:
  The tissue samples will come from the human cooperative network. They have their own set of criteria. We are requesting tissue samples from individuals that are normal as well as those who have cancer.
  EXCLUSION CRITERIA:
  The tissue samples will come from the human cooperative tissue network and we are asking for normal samples from individuals who don't have any opportunistic diseases.

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: A Phase 1/2 Study Of HKI-272 (Neratinib) in Combination With Trastuzumab (Herceptin) In Subjects With Advanced Breast Cancer

Summary: The purpose of this study is to learn whether it is safe and effective to administer HKI-272 (neratinib) in combination with Herceptin in patients with advanced breast cancer.

Detailed description: Open label phase 1/2 study of ascending multiple oral doses of HKI-272 in combination with IV Herceptin in subjects with advanced HER2+ breast cancer. Three to six subjects will be enrolled in each dose group. Adverse events and dose limiting toxicities will be assessed from the first dose of study drug though day 21. When the maximum tolerated dose of HKI-272 plus Herceptin is determined, an additional 30 subjects will be enrolled at that dose level, and followed for progression free survival for approximately 1 year.

Eligibility: Inclusion Criteria:
  -  Pathologic diagnosis of breast cancer with current stage IIIB, IIIC or IV not curable by available therapy
  -  Progression following at least one Herceptin-containing cytotoxic chemotherapy regimen (neoadjuvant, adjuvant, or metastatic setting)
  -  HER2 positive breast cancer
  -  At least one measurable target lesion
  -  Adequate performance status
  -  Adequate cardiac, kidney, and liver function
  -  Adequate blood counts
  -  Willingness of all subjects who are not surgically sterile or post menopausal to use acceptable methods of birth control
  Exclusion Criteria:
  -  More than 3 prior cytotoxic chemotherapy regimens for locally advanced or metastatic disease
  -  Major surgery, chemotherapy, radiotherapy, investigational agents, Herceptin or other cancer therapy within 2 weeks of treatment day 1
  -  Prior treatment with anthracyclines with cumulative dose of >400 mg/m^2
  -  Extensive visceral disease
  -  Active central nervous system metastases
  -  Pregnant or breast feeding women
  -  Significant chronic or recent acute gastrointestinal disorder with diarrhea as a major symptom
  -  Prior exposure to HKI-272 or other HER2 targeted agents (except Herceptin and Tykerb)
  -  Significant cardiac disease or dysfunction
  -  History of life-threatening hypersensitivity to Herceptin
  -  Inability or unwillingness to swallow HKI-272 capsules
  -  Any other cancer within 5 years with the exception of contralateral breast cancer, adequately treated cervical carcinoma in situ, or adequately treated basal or squamous cell carcinoma of the skin

Relevance to patient case: not relevant
Patient case: 73-year-old female with breast cancer; genetic feature: CDKN2A

Clinical trial: Safety of Everolimus in Combination Therapy, in Patients With HER2-overexpressing Metastatic Breast Cancer

Summary: This study will look at different dose levels and regimens of everolimus combined with weekly trastuzumab and vinorelbine therapy in patients with HER-2 overexpressing metastatic breast cancer.


Eligibility: Inclusion criteria:
  -  Female or male patients ≥18 years with WHO performance status ≤ 1
  -  HER-2 overexpressing metastatic breast cancer cells confirmed by histology
  -  Progressive disease on prior trastuzumab alone/or in combination with other anticancer agents, or relapsed any time after completion of this therapy
  -  Patients neurologically stable with adequate bone marrow, liver and renal function
  Exclusion criteria:
  -  Patients receiving endocrine therapy for breast cancer ≤ 2 weeks prior to study treatment start
  -  Patients currently receiving chemotherapy, immunotherapy or radiotherapy or who have received these ≤ 4 weeks prior to study treatment start or patients who have received lapatinib ≤ 2 weeks prior to study treatment start
  -  Patients who have previously received vinorelbine or mTOR inhibitors
  Other protocol-defined inclusion/exclusion criteria may apply

Relevance to patient case: not relevant