Cargando…

Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing

IMPORTANCE: Personalized surveillance, prophylaxis, and cancer treatment options for individuals with hereditary cancer predisposition are informed by results of germline genetic testing. Improvements to genomic technology, such as the availability of RNA sequencing, may increase identification of i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Horton, Carolyn, Hoang, Lily, Zimmermann, Heather, Young, Colin, Grzybowski, Jessica, Durda, Kate, Vuong, Huy, Burks, David, Cass, Ashley, LaDuca, Holly, Richardson, Marcy E., Harrison, Steven, Chao, Elizabeth C., Karam, Rachid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Medical Association 2023
Materias:	Original Investigation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10625669/ https://www.ncbi.nlm.nih.gov/pubmed/37924330 http://dx.doi.org/10.1001/jamaoncol.2023.5586

Ejemplares similares

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
por: Horton, Carolyn, et al.
Publicado: (2022)

Universal Multi Gene Panel Testing For Individuals With Pheochromocytomas And Paragangliomas
por: Horton, Carolyn, et al.
Publicado: (2021)

Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield
por: Horton, Carolyn, et al.
Publicado: (2022)

Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data
por: Hernandez, Felicia, et al.
Publicado: (2022)

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer
por: Karam, Rachid, 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)

Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations
por: Horton, Carolyn, et al.
Publicado: (2022)

Diagnosing hereditary cancer predisposition in men with prostate cancer
por: Pritzlaff, Mary, et al.
Publicado: (2020)

Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care—Checking CHEK2
por: Bychkovsky, Brittany L., et al.
Publicado: (2022)

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
por: LaDuca, Holly, et al.
Publicado: (2019)

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels
por: LaDuca, Holly, et al.
Publicado: (2017)

Mutation prevalence tables for hereditary cancer derived from multigene panel testing
por: Hart, Steven N., et al.
Publicado: (2020)

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients
por: LaDuca, Holly, et al.
Publicado: (2014)

Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes
por: Hu, Chunling, et al.
Publicado: (2018)

catena-Poly[[[aquacopper(II)]-μ-(biphenyl-2,2′-dicarboxylato)-μ-[N,N′-bis(pyridin-4-yl)urea]] 1.25-hydrate]
por: Uzorka, Ben, et al.
Publicado: (2020)

Poly[[μ-1,3-bis(pyridin-3-yl)urea]bis(μ(4)-succinato)dicopper(II)], a ribbon-like coordination polymer
por: Ezenyilimba, Frederick, et al.
Publicado: (2023)

Poly[[aqua[μ(2)-1,3-bis(pyridin-4-yl)urea-κ(2) N (4):N (4′)]bis(μ(3)-5-tert-butylisophthalato-κ(3) O (1):O (1′):O (3))dizinc(II)] trihydrate], a double-strand coordination polymer
por: Jia, Jason, et al.
Publicado: (2023)

Poly[[μ-1,4-bis(pyridin-4-ylmethyl)piperazine]bis[μ(3)-4-(2-carboxylatoethyl)benzoato]dicopper(II)]
por: Jia, Jason, et al.
Publicado: (2023)

Poly[bis[μ(2)-1,3-bis(pyridin-4-yl)urea-κ(2) N (4):N (4′)]bis(μ(2)-5-methylisophthalato-κ(2) O (1):O (3))dizinc(II)], a parallel interpenetrated slab-like coordination polymer with {3.6(4)8}{3(2)6.7(2)8} 4,4-connected binodal topology
por: Jia, Jason, et al.
Publicado: (2023)

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care
por: Tandy-Connor, Stephany, et al.
Publicado: (2018)

Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer
por: Yadav, Siddhartha, et al.
Publicado: (2020)

Correction to: Pathogenic variants among females with breast cancer and a non‑breast cancer reveal opportunities for cancer interception
por: Bychkovsky, Brittany L., et al.
Publicado: (2023)

Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception
por: Bychkovsky, Brittany L., et al.
Publicado: (2023)

Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes
por: Pesaran, T., et al.
Publicado: (2016)

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort
por: Li, Hongyan, et al.
Publicado: (2019)

Bis(dimethylmalonato-κ(2) O,O′)bis[4-(4-pyridylamino-κN (4))pyridinium]nickel(II) hexahydrate
por: Farnum, Gregory A., et al.
Publicado: (2008)

Poly[di-μ(3)-chlorido-[μ(2)-(3-pyridyl)(4-pyridyl)methanone-κ(2) N:N′]dicopper(I)]
por: Hittle, Jennifer L., et al.
Publicado: (2008)

Poly[4,4′-iminodipyridinium [di-μ(4)-isophthalato-κ(4) O:O′:O′′:O′′-di-μ(3)-isophthalato-κ(3) O:O′:O′′;κ(4) O:O′:O′′,O′′′-trizinc(II)] dihydrate]
por: Braverman, Maxwell A., et al.
Publicado: (2008)

catena-Poly[[[tetraaquacobalt(II)]-μ-4,4′-bipyridine-κ(2) N:N′] bis(perchlorate) 4,4′-bipyridine disolvate dihydrate]
por: Nettleman, Joseph H., et al.
Publicado: (2008)

Poly[4,4′-iminodipyridinium [tetra-μ(3)-oxido-tetraoxido-di-μ(4)-phosphato-κ(4) O:O′:O′′:O′′′-tetravanadium(V)]]
por: Farnum, Gregory A., et al.
Publicado: (2008)

catena-Poly[[[(dimethylmalonato-κ(2) O:O′)(perchlorato-κO)copper(II)]-μ-bis(3-pyridylmethyl)piperazinediium-κ(2) N (1′):N (4′)] perchlorate dihydrate]
por: Farnum, Gregory A., et al.
Publicado: (2008)

4,4′-Iminodipyridinium bis(hydrogen phthalate)
por: Martin, David P., et al.
Publicado: (2008)

catena-Poly[[(triaquacadmium)-μ-1,4-phenylenediacetato-κ(4) O,O′:O′′,O′′′] dihydrate]
por: Uebler, Jacob W., et al.
Publicado: (2011)

μ-1,4-Bis(pyridin-4-ylmethyl)piperazine-κ(2) N:N′-bis[aquabis(3-bromo-5-carboxybenzoato-κO (1))copper(II)]
por: Meyer, Jodi L., et al.
Publicado: (2012)

Poly[[aqua[μ-1,4-bis(3-pyridylmethyl)piperazine-κ(2) N:N′](μ-isophthalato-κ(2) O (1):O (3))copper(II)]
por: Gandolfo, Chaun M., et al.
Publicado: (2010)

catena-Poly[[diazidozinc(II)]-μ-di-4-pyridylamine-κ(2) N:N′]
por: Hardy, Aaron M., et al.
Publicado: (2009)

Poly[[μ(4)-bis(4-pyridylcarbonyl)piperazine-κ(4) N:N′:O:O′]bis(thiocyanato-κN)cobalt(II)]
por: Wilseck, Zachary M., et al.
Publicado: (2010)

catena-Poly[[diaquacadmium(II)]bis(μ-2,2-dimethylbutanedioato-κ(4) O,O′:O′′,O′′′)[diaquacadmium(II)]-μ-1,4-bis(3-pyridylmethyl)piperazine-κ(2) N (3):N (3′)]
por: Pochodylo, Amy L., et al.
Publicado: (2010)

4-(4-Pyridylamino)pyridinium perchlorate
por: Farnum, Gregory A., et al.
Publicado: (2009)

Bis(perchlorato-κO)tetrakis[1-(2-pyridyl)-4-(4-pyridylmethyl-κN)piperazine]cadmium(II)
por: Farnum, Gregory A., et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_cjikfp9rmpvrttg3v1fcq4l49b