Výsledky vyhledávání - "Maegan E Roberts"

Akademický článek

Germline multigene panel testing in acute and chronic pancreatitis.

Autor: Mitchell L Ramsey, Brandie Heald, Yevgeniya Gokun, Josie Baker, J Royce Groce, Samuel Han, Phil A Hart, Somashekar G Krishna, Luis F Lara, Peter J Lee, Georgios I Papachristou, Rachel Pearlman, Sarah Poll, Maegan E Roberts, Peter P Stanich

Publikováno v: PLoS ONE, Vol 19, Iss 8, p e0307076 (2024)

Background/objectivesGermline genetic testing is recommended for younger patients with idiopathic pancreatitis but there has been a lack of consensus in recommendations for those over age 35. We aimed to analyze the results of genetic testing among s

Externí odkaz: https://doaj.org/article/4e23c99406584bb7b4c3a857a79d3604

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Akademický článek

Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls

Autor: Kevin J. Arvai, Maegan E. Roberts, Rebecca I. Torene, Lisa R. Susswein, Megan L. Marshall, Zhancheng Zhang, Natalie J. Carter, Lauren Yackowski, Erica S. Rinella, Rachel T. Klein, Kathleen S. Hruska, Kyle Retterer

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-7 (2019)

Abstract Background Genes in the homologous recombination pathway have shown varying results in the literature regarding ovarian cancer (OC) association. Recent case-control studies have used allele counts alone to quantify genetic associations with

Externí odkaz: https://doaj.org/article/84cd957c7ef5414fb2a8517d356d7ae4

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Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

Publikováno v: Journal of Medical Genetics, 60, 568-575
Journal of Medical Genetics, 60, 6, pp. 568-575

BackgroundGermline pathogenic variants inCDH1are associated with increased risk of diffuse gastric cancer and lobular breast cancer. Risk reduction strategies include consideration of prophylactic surgery, thereby making accurate interpretation of ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b92564af059677ad97db8e84364c32ac
https://hdl.handle.net/2066/293518

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Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels

Autor: Erin G. Sutcliffe, Jessica L. Mester, Lisa R. Susswein, Maegan E. Roberts, Megan L. Marshall, Kathleen S. Hruska

Publikováno v: Cancer Genetics. :86-89

Mosaic variants are regularly detected on hereditary cancer genetic tests. While some of these variants may be constitutional, the majority are likely limited to blood lineages. In the present study, we correlate clinical histories from individuals w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196417f0a48d77af660d11d9c0525643
https://doi.org/10.1016/j.cancergen.2022.07.004

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Optimising clinical care through

Publikováno v: J Med Genet

BACKGROUND: Germline pathogenic variants in CDH1 are associated with increased risk for diffuse gastric cancer and lobular breast cancer. Risk-reduction strategies include consideration of prophylactic surgery, thereby making accurate interpretation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ed92a5ffe0a6e46f2cb612ad82e06503
https://pubmed.ncbi.nlm.nih.gov/36600593

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