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View article: Survey of clot waveform analysis of normal activated partial thromboplastin time in patients with cirrhosis and sepsis at Le Van Thinh hospital
Survey of clot waveform analysis of normal activated partial thromboplastin time in patients with cirrhosis and sepsis at Le Van Thinh hospital Open
This study aimed to establish the correlation between activated partial thromboplastin time (aPTT) in seconds and ratio, first derivative peak (Max1), second derivative peak (Max2), second derivative minimum peak (Min2), and delta-OD of cl…
View article: A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome Open
Background Germline pathogenic variants in TP53 cause Li-Fraumeni syndrome, with significantly elevated cancer risk from infancy. Accurate classification of TP53 variants is essential to guide clinical management and surveillance, yet many…
View article: Online shopping intent on ai-integrated e commerce platforms among students in Ho Chi Minh City: The role of attitudes and trust toward AI
Online shopping intent on ai-integrated e commerce platforms among students in Ho Chi Minh City: The role of attitudes and trust toward AI Open
Artificial Intelligence (AI) is revolutionizing the digital landscape, driving transformative changes in consumer behavior, particularly online shopping on e-commerce platforms integrated with AI technologies. By utilizing machine learning…
View article: Call to action for genetic counseling research in hereditary cancer: Considerations from the evidence‐based guidelines development process
Call to action for genetic counseling research in hereditary cancer: Considerations from the evidence‐based guidelines development process Open
The National Society of Genetic Counselors (NSGC) planned to develop an evidence‐based guideline on the outcomes of genetic counseling for individuals at risk for hereditary cancer. The practice guideline workgroup used Grading of Recommen…
View article: THE CURRENT STATE OF SEPAKTAKRAW TECHNICAL SKILLS AMONG 13-14-YEAR-OLD FEMALE ATHLETES IN DONG THAP PROVINCE, VIETNAM
THE CURRENT STATE OF SEPAKTAKRAW TECHNICAL SKILLS AMONG 13-14-YEAR-OLD FEMALE ATHLETES IN DONG THAP PROVINCE, VIETNAM Open
Sepaktakraw has become one of the most prominent sports in the SEA Games and ASIAD. As a team-based discipline, it demands that players possess well-developed fundamental techniques to perform accurate movements and implement intricate str…
View article: Exploring The Relationship Between Clinical Learning Environments, Stress Perception, And Coping Behaviors In Nursing Students
Exploring The Relationship Between Clinical Learning Environments, Stress Perception, And Coping Behaviors In Nursing Students Open
Introduction Clinical learning environments play a crucial role in shaping nursing students’ stress perception and coping behaviors. Understanding these relationships can improve student outcomes and well-being. Methods A cross-sectional d…
View article: Taxifolin Attenuates Hepatic Fibrosis and Injury in High-Fat Diet and Streptozotocin-Induced Type 2 Diabetes Mice
Taxifolin Attenuates Hepatic Fibrosis and Injury in High-Fat Diet and Streptozotocin-Induced Type 2 Diabetes Mice Open
This study investigated the protective effects of taxifolin (TAX), a bioflavonoid, against hepatic fibrosis and injury in the type 2 diabetes mellitus (T2DM) mouse model. T2DM model was induced in male C57BL/6 mice by high-fat diet (HFD) a…
View article: Factors influencing prophylactic surgical intervention in women with genetic predisposition for breast cancer
Factors influencing prophylactic surgical intervention in women with genetic predisposition for breast cancer Open
Introduction In the United States, 5%–10% of breast cancer cases are due to genetic predisposition. Among this population, prophylactic mastectomy is viable risk‐reducing option. Objective The objective of this study is to understand the t…
View article: Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk Open
Background Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of BRCA1 / BRCA2 (CIMBA), …
View article: Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2 Open
View article: Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers Open
View article: Effect of risk-reducing salpingo-oophorectomy on sex steroid hormone serum levels among postmenopausal women: an NRG Oncology/Gynecologic Oncology Group study
Effect of risk-reducing salpingo-oophorectomy on sex steroid hormone serum levels among postmenopausal women: an NRG Oncology/Gynecologic Oncology Group study Open
View article: Personalising therapy for early-stage oestrogen receptor-positive breast cancer in older women
Personalising therapy for early-stage oestrogen receptor-positive breast cancer in older women Open
Age is one of the most important risk factors for the development of breast cancer. Nearly a third of all breast cancer cases occur in older women (aged ≥70 years), with most cases being oestrogen receptor-positive (ER+). Such tumours are …
View article: Breast and Prostate Cancer Risks for Male<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variant Carriers Using Polygenic Risk Scores
Breast and Prostate Cancer Risks for Male<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variant Carriers Using Polygenic Risk Scores Open
Background Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogeni…
View article: Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome Open
View article: Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants
Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants Open
Germline pathogenic variants in TP53 are associated with Li-Fraumeni syndrome, a cancer predisposition disorder inherited in an autosomal dominant pattern associated with a high risk of malignancy, including early-onset breast cancers, sar…
View article: A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome Open
De novo mutations (DNMs) are increasingly recognized as rare disease causal factors. Identifying DNM carriers will allow researchers to study the likely distinct molecular mechanisms of DNMs. We developed Famdenovo to predict DNM status (D…
View article: Pilot Study Assessing Tolerability and Metabolic Effects of Metformin in Patients With Li-Fraumeni Syndrome
Pilot Study Assessing Tolerability and Metabolic Effects of Metformin in Patients With Li-Fraumeni Syndrome Open
Background Li-Fraumeni syndrome (LFS) is a highly penetrant autosomal dominant cancer predisposition disorder caused by germline TP53 pathogenic variants. Patients with LFS have increased oxidative phosphorylation capacity in skeletal musc…
View article: Characterization of the Cancer Spectrum in Men With Germline<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variants
Characterization of the Cancer Spectrum in Men With Germline<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variants Open
Significant differences in the cancer spectrum were observed in male BRCA2, compared with BRCA1, PV carriers. These data may inform future recommendations for surveillance of BRCA1/2-associated cancers and guide future prospective studies …
View article: Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants
Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants Open
Germline pathogenic variants in TP53 are associated with Li-Fraumeni syndrome (LFS), an autosomal dominant cancer predisposition disorder associated with high risk of malignancy, including early onset breast cancers, sarcomas, adrenocortic…
View article: Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition
Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition Open
Background: The success of multisite collaborative research relies on effective data collection, harmonization, and aggregation strategies. Data Coordination Centers (DCC) serve to facilitate the implementation of these strategies. The uti…
View article: A pedigree-based prediction model identifies carriers of deleterious<i>de novo</i>mutations in families with Li-Fraumeni syndrome
A pedigree-based prediction model identifies carriers of deleterious<i>de novo</i>mutations in families with Li-Fraumeni syndrome Open
De novo mutations (DNMs) are increasingly recognized as rare disease causal factors. Identifying DNM carriers will allow researchers to study the likely distinct molecular mechanisms of DNMs. We developed Famdenovo to predict DNM status (D…
View article: Prospective follow-up of quality of life for participants undergoing risk-reducing salpingo-oophorectomy or ovarian cancer screening in GOG-0199: An NRG Oncology/GOG study
Prospective follow-up of quality of life for participants undergoing risk-reducing salpingo-oophorectomy or ovarian cancer screening in GOG-0199: An NRG Oncology/GOG study Open
View article: Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts
Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts Open
Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome associated with an autosomal-dominant mutation inheritance in the TP53 tumor suppressor gene and a wide spectrum of cancer diagnoses. The previously developed R package, LFSPR…
View article: Risk-Reducing Salpingo-Oophorectomy and Breast Cancer Risk Reduction in the Gynecologic Oncology Group Protocol-0199 (GOG-0199)
Risk-Reducing Salpingo-Oophorectomy and Breast Cancer Risk Reduction in the Gynecologic Oncology Group Protocol-0199 (GOG-0199) Open
Background Risk-reducing salpingo-oophorectomy (RRSO) has been associated with approximately 50% breast cancer risk reduction among women with a pathogenic variant in BRCA1 or BRCA2 (BRCA1/2), a finding that has recently been questioned. M…
View article: Risk of differential cancer types over age in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts
Risk of differential cancer types over age in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts Open
Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome associated with an autosomal dominant mutation inheritance in the TP53 tumor suppressor gene and a wide spectrum of cancer diagnoses. An accurate estimation of the penetrance …
View article: Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging Open
These data suggest clinical utility of baseline WBMRI in TP53 germline mutation carriers and may form an integral part of baseline clinical risk management in this high-risk population.
View article: Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort Open
This study describes the establishment and feasibility of an intensive cancer surveillance protocol for individuals with Li-Fraumeni syndrome. Prevalent cancers were detected at an early stage with baseline whole-body, brain, and breast MR…
View article: Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Through Family-Based Outreach
Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Through Family-Based Outreach Open
In May 2016, the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences, National Cancer Institute, convened a workshop to discuss a conceptual framework for identifying and genetically testing previously …
View article: Recommended Guidelines for Validation, Quality Control, and Reporting of <i>TP53</i> Variants in Clinical Practice
Recommended Guidelines for Validation, Quality Control, and Reporting of <i>TP53</i> Variants in Clinical Practice Open
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li–Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic da…