Search Results - EGA European Genome-Phenome Archive

NCTN: Phase III Randomized Study of Sorafenib Plus Doxorubicin versus Sorafenib in Patients with Advanced Hepatocellular Carcinoma (HCC) (CALGB-80802)

Study ID: CALGB-80802NCT Number: NCT01015833 Alliance for Clinical Trials in OncologySubmitted in collaboration with the NCTN/NCORP Data ArchiveTrial Title: NCTN: Phase III Randomized Study of Sorafenib plus Doxorubicin versus Sorafenib in Patients with Advanced Hepatocellular Carcinoma (HCC) (CALGB-80802)Trial Description: This randomized phase III trial studies sorafenib tosylate and doxorubicin hydrochloride to see how well they work compared with sorafenib tosylate alone in treating patients with liver cancer that has spread to nearby tissue or lymph nodes or has spread to other places in the body. Sorafenib tosylate may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth and by blocking blood flow to the tumor. Drugs used in chemotherapy, such as doxorubicin hydrochloride, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing. It is not yet known whether giving sorafenib tosylate together with doxorubicin hydrochloride is more effective than sorafenib tosylate alone in treating liver cancer. Data presented in the following publication(s): PMID 31486832 Disease type(s): Gastrointestinal Neoplasm - Liver and Hepatobiliary CancerClinical Dataset(s) included:NCT01015833-D1 (PMID 31486832): Dataset NCT01015833-D1 is the only dataset associated with PubMed ID 31486832. This dataset contains baseline characteristics, treatment arm and number of cycles, treatment discontinuation reasons, hepatitis status, toxicity, and survival data.You are encouraged to view the PDF data dictionaries found in the “Documents” tab of the dbGaP study page, which may contain additional information regarding the data or the associated publication(s).

Study phs004239

SMARCB1 Missense Mutants Destabilize SWI/SNF Complex Stability and Remodeling Activity

Study Design and Aims: This study utilizes a comprehensive deep mutational scanning (DMS) approach to systematically assess the functional consequences of 8,418 amino acid substitutions in the SMARCB1 gene, a core subunit of the SWI/SNF chromatin remodeling complex. The primary aim is to evaluate how missense mutations affect SMARCB1's tumor suppressor function and its role in the assembly and activity of distinct SWI/SNF subcomplexes (cBAF, PBAF, and GBAF). By addressing functional impacts across the entire coding sequence of SMARCB1, the study seeks to elucidate the molecular mechanisms underlying chromatin remodeling deficiencies caused by SMARCB1 missense mutations and their implications for cancer biology and diagnostics.Population Information: The study focuses on functional variants of SMARCB1, specifically addressing the mutational landscape relevant to cancers such as malignant rhabdoid tumor (MRTK), atypical teratoid rhabdoid tumor (ATRT), and renal medullary carcinoma (RMC). Variants are modeled using in vitro systems to characterize their functional consequences.Molecular Technologies: This study first uses DMS for the systematic identification of functionally disruptive mutations in SMARCB1. Top hits identified through DMS were validated using complementary molecular technologies. These included RNA sequencing (RNA-Seq) to evaluate transcriptional changes associated with specific mutations, ATAC-sequencing (ATAC-seq) to assess chromatin accessibility and remodeling activity, and mass spectrometry to analyze SWI/SNF complex composition in the presence of specific mutations. Principal Findings: The study identifies a subset of missense mutations within the RPT2 domain of SMARCB1 that impair SWI/SNF complex stability and chromatin remodeling, despite retaining detectable protein expression. Notably, these findings challenge current diagnostic methods that rely solely on immunohistochemistry to assess protein presence, as some functionally disruptive mutations retain detectable expression.Data Available through dbGaP: The dataset includes RNA-Seq and ATAC-seq data detailing transcriptional and chromatin accessibility changes associated with validated mutations, mass spectrometry data documenting SWI/SNF complex composition and stability in the context of specific mutations, and functional assay results for all SMARCB1 variants assessed via DMS. This dataset provides a valuable resource for understanding SMARCB1's role in chromatin biology and for improving the classification of variants of uncertain significance (VUS) in clinical diagnostics.

Study phs003896

Whole Genome Sequencing of Locally Advanced Esophageal Cancer

We assembled a cohort of 36 patients with locally advanced esophageal cancer undergoing curative-intent therapy. Two ultrasensitive, tumor-informed, mutation enrichment sequencing tests were applied to serially collected blood samples to detect circulating tumor DNA (ctDNA), MAESTRO-Pool of the Broad Institute and the Oncodetect V2 assay (based on MAESTRO) of Exact Sciences. Both assays showed highly concordant results, with the Oncodetect V2 assay showing better sensitivity while maintaining high specificity. We found ctDNA detection postoperatively was strongly associated with disease recurrence and that most ctDNA-positive samples had variant allele fractions below 100 parts-per-million, the limit of detection of first-generation assays. Here we provide whole genome sequencing of matched tumor tissue and normal germline DNA from these 36 patients that were used to design individualized assays for MAESTRO-Pool and the Oncodetect V2 assay.

Study phs004613

Women's Health Initiative Clinical Trial and Observational Study-BioLINCC (WHI-BioLINCC )

Data Access NOTE: Please refer to the “Authorized Access” section below for information about how access to the data from this accession differs from many other dbGaP accessions.Related Studies: This accession includes only deidentified phenotypic data. Related accessions for WHI include: WHI Cohort (dbGaP phs000200, and Women's Health Initiative Clinical Trial and Observational Study – Imaging (dbGaP phs003824), and Women's Health Initiative - Life and Longevity After Cancer (dbGaP phs004174).Available Data: Data are available from the following: the multi-component clinical trial (CT), the observational study (OS), the extension studies (ES), and the ancillary memory study (MS). Includes outcome data through 3/31/2018.Objectives: The clinical trial assessed the safety and efficacy of three interventions. Specifically, it evaluated (1) the major health benefits and risks of estrogen plus progestin and estrogen alone, (2) the effects of a low-fat eating pattern on risk of colorectal cancer, and (3) the efficacy of calcium with vitamin D supplementation for preventing hip and other fractures. The objective of the memory study was to determine whether estrogen plus progestin therapy protects global cognitive function, and evaluate the therapy's effect on the incidence of dementia and mild cognitive impairment.The observational study is examining the relationship between lifestyle, socioeconomic, health, and other risk factors with cardiovascular, breast cancer, colorectal cancer and osteoporotic fracture outcomes. Secondary objectives include providing more reliable estimates of the extent to which known risk factors predict disease, more precise estimates of new occurrences of disease, and to provide a future resource for the identification of new or novel risk factors especially factors found in blood. Background: The Women's Health Initiative (WHI) is a long-term national health study that has focused on strategies for preventing the major causes of death, disability, and frailty in postmenopausal women, specifically heart disease, cancer, and osteoporotic fractures. The WHI is primarily composed of an observational study (OS), as well a clinical trial (CT) with three components: Hormone Replacement Therapy (HT), Dietary Modification, (DM) and Calcium/Vitamin D supplementation (CaD).Prior to the WHI, observational studies suggested that postmenopausal hormone therapy was associated with a decreased risk of coronary heart disease (CHD). Potential cardioprotection was based on generally supportive data on lipid levels in intermediate outcome clinical trials, trials in nonhuman primates, and a large body of observational studies suggesting a 40% to 50% reduction in risk among users of either estrogen alone or, less frequently, combined estrogen and progestin. Observational studies primarily examining unopposed estrogen preparations have suggested a 30% to 50% reduction in coronary events, and an 8% to 30% increase in breast cancer with extended use. Other research findings indicated that hormone therapy was also associated with a decreased risk of osteoporosis and increased bone density. The WHI HT trials were designed to test the effects of postmenopausal hormone therapy on risk for coronary heart disease and assess overall risks and benefits in predominantly healthy women.The Women's Health Initiative Memory Program (WHIMS) consists of a suite of studies which include cohorts of women who participated in the WHI HT trials. Postmenopausal women have a greater risk than men of developing Alzheimer's disease, but studies of the effects of estrogen therapy on Alzheimer's disease have been inconsistent. Additionally, observational studies have suggested that postmenopausal hormone treatment may improve cognitive function, but data from randomized clinical trials have been sparse and inconclusive.International comparisons and migration studies have suggested that countries with 50% lower fat intake than the US population had approximately one third the risk of colorectal cancer. Additionally, fairly consistent evidence existed for an effect of dietary fat, vegetables and fruits, and grains on colorectal cancer risk from within-country observational studies, although the protective effect of lower fat intake was no longer clear after adjusting for energy intake. The WHI DM trial was the first randomized trial to directly address the health effects of a low-fat eating pattern in predominantly healthy postmenopausal women from diverse racial/ethnic, geographic, and socioeconomic backgrounds.Osteoporosis is a major cause of injury, loss of independence, and death, and contributes to hip fractures. Observational evidence and data from previous randomized clinical trials suggest that calcium and/or vitamin D supplements may slow bone loss and reduce the risk of falls in postmenopausal and elderly women. However, evidence from trials, observational studies, and meta-analyses of calcium and vitamin D supplementation with respect to hip and other fractures was limited at the time the WHI was initiated. In two prior randomized trials, calcium plus vitamin D supplements did not reduce the risk of nonvertebral fractures among older women. When the WHI CaD trial was designed, guidelines recommended daily intakes of 800 to 1200 mg of calcium with 400 IU of vitamin D for the prevention of osteoporosis, which was not met by many American women. Therefore, the WHI CaD trial was designed to test the primary hypothesis that postmenopausal women randomly assigned to calcium plus vitamin D supplementation would have a lower risk of hip fracture and, secondarily, of all fractures than women assigned to placebo. Participants: A total of 68,132 women were randomized into at least one component of the clinical trial. 27,347 women were enrolled in the hormone therapy component with 16,608 in the estrogen plus progestin trial and 10,739 in the unopposed estrogen trial, 48,835 women were enrolled in the diet modification component, and 36,282 women were enrolled in the calcium/vitamin D component. 7,479 women 65 years of age and older at baseline and that participated in the HT trial component were enrolled in the ancillary memory study.Women who were either ineligible or unwilling to participate in the clinical trial component were enrolled in the observational study. For example, many potential participants to the clinical trial component of the study were already undertaking a low fat diet or were using hormone replacement therapy. The effect of the selection process was that women enrolled in the observational study tended to have healthier lifestyles compared to those enrolled in the clinical trial. In total, 93,676 subjects were enrolled in WHI OS, with over 16% being members of a racial/ethnic minority group.The first WHI Extension Study enrolled 115,407 consenting participants from all components of the original WHI study for an additional five years of follow-up, from 2005 to 2010. In 2010, 93,567 women consented to continued follow-up. Design: The clinical trial component of the WHI included three randomized comparisons: hormone therapy, dietary modification, and calcium/vitamin D supplementation. Women could have been randomized into one, two or all three trials.The hormone therapy trial enrolled women to one of two double-blinded trials: estrogen (0.625 mg of conjugated equine estrogens daily) plus progestin (2.5 mg of medroxyprogesterone acetate daily) or estrogen alone. Women with a prior hysterectomy were eligible for the trial of unopposed estrogen. Women with an intact uterus at screening were initially also eligible for unopposed estrogen, but were reassigned to the trial of combined postmenopausal hormones beginning in 1995. Both trials randomized participants 1:1 to either hormone therapy or placebo. A 3-month washout period was required before baseline evaluation of women using postmenopausal hormones at initial screening. Study participants were contacted by telephone 6 weeks after randomization to assess symptoms and reinforce adherence. Follow-up contacts by telephone or clinic visit occurred every 6 months, with clinic visits required annually.The estrogen plus progestin trial was halted in July 2002 after a mean 5.2 years of follow-up because health risks, including increased risk of breast cancer and cardiovascular disease, exceeded benefits. The estrogen alone trial was stopped early in March 2004, because an increased risk of stroke was found with no benefit for coronary heart disease. The primary outcome was coronary heart disease (CHD) (nonfatal myocardial infarction and CHD death), with invasive breast cancer as the primary adverse outcome.The dietary modification trial evaluated the effect of a low-fat, high fruit, vegetable, and grain diet on preventing cardiovascular disease and cancer. Participants were randomly assigned to an intervention or a comparison group in the ratio of 2:3 for cost-efficiency. The intervention was an intensive behavioral modification program, using 18 group sessions in the first year and quarterly sessions thereafter, led by specially trained and certified nutritionists. The program was designed to promote dietary change with the goals of reducing total fat to 20% of energy intake, increasing vegetables and fruits to at least 5 servings daily and grains to at least 6 servings daily. The intervention did not include total energy reduction or weight loss goals. Comparison group participants received a copy of the US Department of Health and Human Services' Dietary Guidelines for Americans and other health-related materials but were not asked to make dietary changes. Dietary intake was monitored using the WHI food frequency questionnaire at 1 year and in a rotating one-third subsample every year thereafter. Women completed a medical update questionnaire every 6 months, and medical records were sought for all women reporting colorectal cancer. The primary outcome was invasive colorectal cancer incidence.Participants in the calcium/vitamin D trial were randomized 1:1 to either supplements or placebo. Active tablets contained 500 mg of elemental calcium (as calcium carbonate) and 200 IU of vitamin D3, to be taken twice daily with meals. The presence and severity of symptoms, safety concerns, and outcomes were ascertained at annual clinic visits and telephone or clinic visits at intervening six-month intervals. Risk factors for fracture were assessed by questionnaire, interview, and clinical examination. The primary outcome was incidence of hip fracture.Participants in the observational study attended a baseline examination and were re-examined three years later. Participants completed annual updates of exposures and clinical outcomes by mail. Final data were collected by mail during the close-out period in April 2004 to March 2005. The major clinical outcomes of interest were coronary heart disease, stroke, breast cancer, colorectal cancer, endometrial cancer, ovarian cancer, osteoporotic fractures, diabetes, and total mortality. Most outcomes were initially ascertained by self-report on an annual questionnaire and documented by hospital and related records. Charts with potential cardiovascular, cancer, and fracture outcomes were sent to the local physician adjudicator for evaluation and classification. Staff at the Clinical Coordinating Center coded and adjudicated all cancers of major interest in the study using standardized SEER guidelines.In 2005, WHI participants were invited to join the Extension Study for an additional five years of follow-up in order to collect long-term outcomes. Participants completed annual data collection forms primarily by mail, similar to the OS follow-up. Women reporting study outcomes were contacted by WHI field center staff to obtain additional details and medical records, which were evaluated by physician adjudicators. In 2010, the woman remaining were invited to join the next Extension Study. In the second extension, women were divided into two groups, one of which would have outcomes documented with medical records (the Medical Records Cohort, MRC), and the other would just be followed by self-report (the Self-Report Cohort, SRC). The MRC consists of women who were in the hormone therapy trials, and all African-American and Hispanic women. In 2012-2013, a subset of the MRC was identified for a potential in-home visit to collect blood and several objective measures of physical functioning.Conclusions: Overall health risks exceeded benefits from use of combined estrogen plus progestin after an average 5.2 year follow-up among healthy postmenopausal US women (Rossouw et al., 2002, PMID: 12117397). Among postmenopausal women aged 65 years or older, estrogen plus progestin did not improve cognitive function when compared with placebo (Rapp et al., 2003, PMID: 12771113), increased the risk for probable dementia, and did not prevent mild cognitive impairment (Shumaker et al., 2003, PMID: 12771112). The use of conjugated equine estrogen increased the risk of stroke, decreased the risk of hip fracture, and did not affect CHD incidence in postmenopausal women with prior hysterectomy after an average of 6.8 years of follow-up (Anderson, et al., 2004, PMID: 15082697). Over approximately 8 years of follow-up, a low-fat dietary pattern did not reduce the risk of colorectal cancer (JAMA 2006;295:643-654). Calcium with vitamin D supplementation resulted in a small but significant improvement in hip bone density; however, no significant difference was observed in hip fractures (Jackson, et al., 2006, PMID: 16481635).

Study phs004266

Kids First: Childhood Cancer Data Initiative (CCDI) - Discovering the Timing and Origins of Bone and Soft Tissue Cancers

Sarcoma are cancers of bone and connective tissue that disproportionately affect children and are often difficult to diagnose. This study presents the genome and transcriptome sequences of carefully curated sarcoma tumors and matched non-neoplastic (normal) specimens including a cohort of benign bone and soft tissue tumors, totalling 1122 sequences from 310 participants, covering 69 various subtypes. High-quality pathology reviewed specimens (FF or FFPE) with detailed clinical data were selected to inform key temporal landmark in sarcoma development – from tumor initiation to the generation of critical oncogenic fusions and malignant potential, to possible relapse or metastasis.

Study phs002827

Utility of Pancreatic Tumor Scrapings for Organoid Development and Precision Medicine Strategies

Patient-derived organoids (PDOs) hold promise for predicting individualized drug responses, but their establishment is often constrained by the limited availability of tumor material and prior neoadjuvant treatment. Standard PDO generation relies on dissected tissue slices from the cut surface of the tumor which may include both the invasive front, where it is postulated that more aggressive cancer cells reside, and potentially fewer viable neoplastic cells in the tumor center. This study investigates whether scraping the PDAC cut surface is a feasible method for PDO establishment compared to standard tissue samples, in order to take advantage of the potential harvesting of viable neoplastic cells from the invasive front. Tumor scrapings from 26 patients and matched tissue slices from 20 patients were collected. PDOs were successfully established from 10 tumor scrapings and 8 matched tissue slices, including 3 neoadjuvant-treated cases. Organoid histologic architecture was comparable to the surgical tumor specimens, with paired scraping and tissue slice PDOs showing genomic and transcriptomic concordance. Pharmacotyping demonstrated that scraping PDOs reliably captured patient-specific chemosensitivity, highlighting the potential for a viable alternative method to standard tissue slice PDOs. As proliferative and treatment-resistant neoplastic cells often originate from the tumor edge, increasing representation of the periphery and across the tumor may offer a more comprehensive model of invasive tumor biology, improving the clinical and research utility of PDOs.

Study phs004385

Blood and Marrow Clinical Trials Network - Allogeneic Hematopoietic Cell Transplant for Hematological Cancers and Myelodysplastic Syndromes in HIV-Infected Individuals (BMT CTN-0903-BioLINCC)

Data Access NOTE: Please refer to the “Authorized Access” section below for information about how access to the data from this accession differs from many other dbGaP accessions.Objectives: To evaluate the safety and effectiveness of allogeneic hematopoietic cell transplantation for patients with hematologic malignancies or myelodysplastic syndromes and coincident-HIV infection.Background: Allogeneic hematopoietic cell transplantation (alloHCT) has been a safe and curative option for many patients with hematologic malignancies but was not well studied in the HIV+ population despite the interest in the HIV research community of the curative potential of alloHCT. Hematologic malignancies in people with HIV infection (HIV+) have been associated with poor outcomes due to opportunistic infections, but the development of antiretroviral therapy (ART) has increased the possibility of these patients achieving clinical outcomes comparable to those of the general population following stem cell transplant. The BMT CTN 0903 trial was designed to evaluate the safety and effectiveness of alloHCT for patients with HIV infection and hematologic malignancies.Participants: Patients had documented HIV infection, were a minimum of 15 years of age and had acute myeloid leukemia (AML) or acute lymphocytic leukemia (ALL) in first or second complete remission (CR); Int-2 or high-risk myelodysplastic syndromes (MDS) with CCR5delta32. AlloHCT using cord blood units or T-cell depletion was not allowed. Patients with history of prior alloHCT were excluded. Patients had to meet adequate organ function. Karnofsky/Lansky performance status ≥ 70% and could not have active central nervous system disease, HIV infection resistant to all antiretroviral therapy, or opportunistic infection unresponsive to treatment.There were seventeen HIV-infected patients with acute leukemia, myelodysplasia (MDS), NHL or classical HL who were enrolled in the trial.Design: Patients with HIV infection and hematological malignancies or myelodysplastic syndromes (MDS) were treated with either reduced-intensity conditioning (RIC) or myeloablative conditioning (MAC) followed by alloHCT. RIC or MAC was at the discretion of investigator. Where feasible, an attempt was made to identify hematopoietic cell donors who were homozygotes for the CCR5delta32 polymorphism. Graft-versus-host disease (GVHD) was treated per institutional standards.Four regimens were permitted for conditioning. RIC regimens were: fludarabine and busulfan (Flu/Bu), and fludarabine and melphalan (Flu/Mel). MAC regimens were busulfan and fludarabine (Bu/Flu), or cyclophosphamide and total body irradiation (Cy/TBI). GVHD prophylaxis regimens included tacrolimus/methotrexate, tacrolimus/sirolimus, and post-transplant cyclophosphamide with tacrolimus/mycophenolate. Patients receiving busulfan-containing preparative regimens were not eligible to receive tacrolimus/sirolimus. A committee reviewed individual patient's HIV treatment history and ART options before initiation of the transplant conditioning regimen and advised changes to minimize potential drug interactions. It was recommended that ART be continued except ritonavir-containing regimens during MAC.The goal of the study was to assess the 100-day non-relapse mortality. Secondary endpoints included 100-day disease status, percentage donor chimerism, hematologic function, infections, six-month overall survival (OS), incidence of acute and chronic GVHD, immunologic reconstitution, and impact of alloHCT upon measures of HIV persistence in blood including peripheral blood mononuclear (PBMC)-associated HIV DNA and infectious virus from resting CD4+T-cells using a quantitative virus outgrowth assay.Follow-up visits occurred weekly through 8 weeks post-transplant, at 100 days, 6 months, 1 year, and 2 years.Conclusions: There was no non-relapse mortality (NRM) at 100 days, or at 6 months, and therefore no evidence to suggest that NRM is prohibitive or more than that seen in non-HIV-infected patients. The cumulative incidence of grades II-IV acute GVHD was 41%. After year one, overall survival was 59%. In patients who achieved complete chimerism, cell-associated HIV DNA and inducible infectious virus in the blood were not detectable.

Study phs004697

NCTN: A Non-Randomized Phase III Study of Response Adapted Therapy for the Treatment of Children with Newly Diagnosed High Risk Hodgkin Lymphoma (AHOD0831)

Study ID: AHOD0831NCT Number: NCT01026220Children's Oncology Group (COG)Submitted in collaboration with the NCTN/NCORP Data ArchiveTrial Title: NCTN: A Non-Randomized Phase III Study of Response Adapted Therapy for the Treatment of Children with Newly Diagnosed High Risk Hodgkin Lymphoma (AHOD0831)Trial Description: This phase III trial is studying how well giving combination chemotherapy together with radiation therapy works in treating young patients with newly diagnosed Hodgkin lymphoma. Drugs used in chemotherapy work in different ways to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. Radiation therapy uses high energy x-rays to kill cancer cells. Giving combination chemotherapy together with radiation therapy may kill more cancer cells. Clinical data presented in the following publication(s):PMID 31180135Disease type(s): Hematopoietic Neoplasm/Lymphoma - Hodgkin LymphomaClinical Dataset(s) included:NCT01026220-D1 (PMID 31180135): There is one dataset for AHOD0831's primary publication 31180135. This dataset contains patient demographics, baseline characteristics, PET results, and survival endpoints. This dataset is presented at patient level and includes one record per patient.You are encouraged to view the PDF data dictionaries found in the "Documents" tab of the dbGaP study page, which may contain additional information regarding the data or the associated publication(s).

Study phs004161

NCTN: A Randomized Phase III Trial of CC-5013 (Lenalidomide) and Low Dose Dexamethasone (LLD) versus Bortezomib, Lenalidomide and Low Dose Dexamethasone (BLLD) for Induction, in Patients with Previously Untreated Multiple Myeloma (S0777)

Study ID: S0777NCT Number: NCT00644228 SWOG Cancer Research NetworkSubmitted in collaboration with the NCTN/NCORP Data ArchiveTrial Title: NCTN: A Randomized Phase III Trial of CC-5013 (Lenalidomide) and Low Dose Dexamethasone (LLD) versus Bortezomib, Lenalidomide and Low Dose Dexamethasone (BLLD) for Induction, in Patients with Previously Untreated Multiple Myeloma (S0777)Trial Description: This randomized phase III trial studies lenalidomide, dexamethasone, and bortezomib to see how well it works compared to dexamethasone and lenalidomide alone in treating patients with previously untreated multiple myeloma. Biological therapies, such as lenalidomide, may stimulate the immune system in different ways and stop cancer cells from growing. Drugs used in chemotherapy, such as dexamethasone, work in different ways to stop the growth of cancer cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. Bortezomib may stop the growth of cancer cells by blocking some of the enzymes needed for cell growth or by blocking blood flow to the cancer. It is not yet known whether lenalidomide and dexamethasone is more effective with or without bortezomib in treating multiple myeloma. Data presented in the following publication(s): PMID 28017406Disease type(s): Hematopoietic Neoplasm/Myeloma - MyelomaClinical Dataset(s) included:NCT00644228-D1 (PMID 28017406): There are two datasets for S0777's primary publication 28017406 (-D1 and -D2). This dataset, NCT00644228_D1.txt, contains data included in the aforementioned publication, which included primary and secondary efficacy results evaluating the addition of bortezomib to lenalidomide and low dose dexamethasone induction therapy for the treatment of patients with newly diagnosed multiple myeloma in the SWOG phase III trial, S0777. The dataset includes baseline characteristics, treatment discontinuation reasons, stratification factors, survival, outcome, second primary cancer, and FISH data.NCT00644228-D2 (PMID 28017406): There are two datasets for S0777's primary publication 28017406 (-D1 and -D2). This dataset, NCT00644228_D2.txt, contains data for the safety analyses included in the aforementioned publication, which compared toxicity between bortezomib, lenalidomide and low dose dexamethasone versus lenalidomide and low dose dexamethasone induction therapy for the treatment of patients with newly diagnosed multiple myeloma in the SWOG phase III trial, S0777.You are encouraged to view the PDF data dictionaries found in the “Documents” tab of the dbGaP study page, which may contain additional information regarding the data or the associated publication(s).

Study phs004247

Somatic Evolution in Li-Fraumeni Syndrome

In this study, we used ultradeep duplex sequencing (~15,000× depth) to measure somatic evolution in blood samples from a family of three individuals with Li-Fraumeni Syndrome (LFS) caused by an inherited TP53 pathogenic variant (p.R181H), and compared them to a cohort of unaffected controls using a set of genes related to Clonal Hematopoiesis of Indeterminate Potential (CHIP)/Acute Myeloid Leukemia (AML), as well as a mutagenesis panel designed to examine mutagenic processes. We found that individuals inheriting a single mutated copy of TP53 may experience less positive selection for subsequent TP53 mutations, as evidenced by a deficit of coding TP53 mutations, reduced dN/dS, and low predicted pathogenicity among the TP53 somatic mutations that do occur. However, the overall degree of mutagenesis in genomic regions without strong selection was higher in LFS patients. In addition, we investigated how LFS affects clonal evolution across multiple tissue contexts in one individual carrying p.R181H who succumbed to metastatic esophageal cancer.The data available through dbGaP includes BAM files, MAF files (mutation data), and genomic MUT files (showing per-position depth of sequencing), from ultradeep duplex sequencing of multiple tissues from a LFS patient as well blood samples from family members and controls.

Study phs004484

8432 results for "canc*"

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