Cargando…

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay

PURPOSE: The identification of variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes by hereditary cancer testing poses great challenges for the clinical management of variant carriers. The ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Patholog...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hu, Chunling, Susswein, Lisa R., Roberts, Maegan E., Yang, Hana, Marshall, Megan L., Hiraki, Susan, Berkofsky-Fessler, Windy, Gupta, Sounak, Shen, Wei, Dunn, Carolyn A., Huang, Huaizhi, Na, Jie, Domchek, Susan M., Yadav, Siddhartha, Monteiro, Alvaro N.A., Polley, Eric C., Hart, Steven N., Hruska, Kathleen S., Couch, Fergus J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Association for Cancer Research 2022
Materias:	Precision Medicine and Imaging
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433957/ https://www.ncbi.nlm.nih.gov/pubmed/35736817 http://dx.doi.org/10.1158/1078-0432.CCR-22-0203

Ejemplares similares

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
por: Hu, Chunling, et al.
Publicado: (2023)

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans
por: Lange, Karen I, et al.
Publicado: (2021)

Missense Variants of Uncertain Significance (VUS) Altering the Phosphorylation Patterns of BRCA1 and BRCA2
por: Tram, Eric, et al.
Publicado: (2013)

Parlez-vous VUS?
por: Cooper, Gregory M.
Publicado: (2015)

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
por: Cristofoli, Francesca, et al.
Publicado: (2023)

Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules
por: Jimenez-Sainz, Judit, et al.
Publicado: (2021)

Expanding ACMG variant classification guidelines into a general framework
por: Masson, Emmanuelle, et al.
Publicado: (2022)

$|V_us|$ and $m_s$ from hadronic tau decays
por: Gamiz, Elvira, et al.
Publicado: (2006)

Exome Sequencing in an ADSHE Family: VUS Identification and Limits
por: Villa, Chiara, et al.
Publicado: (2022)

Les rayons cosmiques vus par les grands détecteurs
Publicado: (1999)

Theoretical progress on the V_us determination from tau decays
por: Gamiz, Elvira, et al.
Publicado: (2007)

Understanding of BRCA VUS genetic results by breast cancer specialists
por: Eccles, B. K., et al.
Publicado: (2015)

How Functional Genomics Can Keep Pace With VUS Identification
por: Anderson, Corey L., et al.
Publicado: (2022)

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
por: Stolarova, Lenka, et al.
Publicado: (2023)

Inaccuracies and shortcomings in “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations”
por: Johansen Taber, Katherine, et al.
Publicado: (2019)

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance
por: Richardson, Marcy E., et al.
Publicado: (2021)

Correction: Inaccuracies and shortcomings in “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations”
por: Taber, Katherine Johansen, et al.
Publicado: (2019)

Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report
por: Deuitch, Natalie, et al.
Publicado: (2020)

ACMG practice guideline: Genetic evaluation of short stature
por: Seaver, Laurie H., et al.
Publicado: (2009)

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance
por: Iversen, Edwin S., et al.
Publicado: (2022)

376 Neurologic Deterioration in Children with Non-Severe Traumatic Intracranial Hemorrhage: A Multicenter Cross-Sectional Study
por: Chaudhari, Pradip P., et al.
Publicado: (2023)

4429 Powering precision medicine research with the efficient construction of large diverse cohorts
por: Petukhova, Lynn, et al.
Publicado: (2020)

4058 Enhanced efficiency of large-scale clinical proteomic studies: when less is more
por: Thomas, Stefani, et al.
Publicado: (2020)

4199 A pilot randomized controlled trial of precision care for smoking cessation in the Southern Community Cohort Study
por: Senft, Nicole, et al.
Publicado: (2020)

4513 European Ancestry as a Risk Factor for Atrial Fibrillation in Puerto Rican Hispanics
por: Gonzalez-Cordero, Ariel
Publicado: (2020)

4440 Enhanced radiation therapy using chlorin-e6 conjugated gold nanoparticles
por: Jenkins, Samir V, et al.
Publicado: (2020)

4089 Clinical Implementation of Monte Carlo Dose Calculation for Patient-Specific Radiotherapy Quality Assurance
por: Parenica, Holly Marie, et al.
Publicado: (2020)

4228 A latent class analysis of seriously ill adults with multiple chronic conditions receiving palliative care
por: Murali, Komal, et al.
Publicado: (2020)

4292 Epigenetic Age and Depressive Symptoms in African American Women with Cardiometabolic Conditions
por: Perez, Nicole B, et al.
Publicado: (2020)

4167 Peri-transplant Lung Microbiome Reveal Oral Bacteria, Pepsin And Inflammatory Markers Co-associate With Primary Graft Dysfunction, Implicating Aspiration As A Potential Contributor
por: McGinniss, John Evan, et al.
Publicado: (2020)

4043 Saliva microRNA for pediatric concussion assessment
por: Hicks, Steven, et al.
Publicado: (2020)

4565 Sex-Specific Differences in the Genomic Landscape of Pediatric and Adult Glioblastoma
por: Ivanov, Nikolay A., et al.
Publicado: (2020)

4106 Personalizing Care For Colorectal Cancer: Identifying Novel Opportunities
por: Rivers, Zachary, et al.
Publicado: (2020)

4482 Horizontal ridge augmentation in maxilla using bone expansion vs bone splitting techniques in adult patients: a prospective cohort
por: Acevedo, Amanda Figueroa, et al.
Publicado: (2020)

4518 Metabolomic Identifiers Predictive of Adverse Events due to Acetaminophen Administration
por: Sonn, Brandon Joseph, et al.
Publicado: (2020)

4360 Black Bone MRI from the Lab to Clinical Practice: Eliminating Radiation Exposure in Reconstructive Surgery Patients
por: Suchyta, Marissa, et al.
Publicado: (2020)

4023 Catecholamines and Opioid Therapy Requirements for the Management of Acute Post-Procedural Pain: The clinical Trend to Identify Remarkable Elements in Opioid Drug Dependency
por: Rivera, Armando Uribe, et al.
Publicado: (2020)

4061 Clinical utility of precision medicine approaches to guide anti-platelet selection for adult patients with acute coronary syndromes (ACS), following percutaneous coronary intervention (PCI)
por: Mosley, Scott, et al.
Publicado: (2020)

4385 The Pain and Social Experiences Project: Understanding the role of interpersonal trauma in pain
por: Pierce, Jennifer, et al.
Publicado: (2020)

4267 Noninvasive hybrid ultrasound and photoacoustic imaging for the assessment of liver fibrosis
por: Sultan, Laith Riyadh, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_fqsdo2i0dtkqhoeia2tldo22qj