Výsledky vyhledávání - "Bradford Coffee"

Akademický článek

Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome

Autor: Shujuan Pan, Hannah Cox, Jamie Willmott, Erin Mundt, Heidi Gorringe, Michelle Landon, Karla R. Bowles, Bradford Coffee, Benjamin B. Roa, Debora Mancini-DiNardo

Publikováno v: Frontiers in Oncology, Vol 13 (2023)

Background and AimsTumor immunohistochemical staining (IHC) of DNA mismatch repair (MMR) proteins is often used to guide germline genetic testing and variant classification for patients with suspected Lynch syndrome. This analysis examined the spectr

Externí odkaz: https://doaj.org/article/0f97dd750ae846e5a3e82eca3ba5ac20

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Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis

Autor: Elizabeth Goossen, Karla R. Bowles, Paola Nix, Benjamin B. Roa, Bryan M. Warf, Bradford Coffee, Erin Mundt, Krystal Brown

Publikováno v: Familial Cancer

A substantial proportion of pathogenic variants associated with an increased risk of hereditary cancer are sequence variants affecting RNA splicing. The classification of these variants can be complex when both non-functional and functional transcrip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3a24b81ff5cbd7911397cbcf1c373da
https://doi.org/10.1007/s10689-020-00224-y

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A substantial proportion of apparently heterozygousTP53pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically

Autor: Hannah C. Cox, Karla R. Bowles, Susan Manley, Ryan Bernhisel, Bradford Coffee, Debora Mancini-DiNardo, Benjamin B. Roa

Publikováno v: Human Mutation

Previous analysis of next‐generation sequencing (NGS) hereditary pan‐cancer panel testing demonstrated that approximately 40% of TP53 pathogenic and likely pathogenic variants (PVs) detected have NGS allele frequencies between 10% and 30%, indica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d92431e591d1e3ab9aa56702c773172
https://doi.org/10.1002/humu.23910

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Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle

Autor: Maria Elias, Debora Mancini-DiNardo, Benoît Leclair, Bradford Coffee, Karla R. Bowles, Benjamin B. Roa, Yaping Qian, Hannah C. Cox, Thaddeus Judkins, Nanda Singh

Publikováno v: Future Oncology. 15:65-79

Expanded genetic test utilization to guide cancer management has driven the development of larger gene panels and greater diversity in the patient population pursuing testing, resulting in increased identification of atypical or technically challengi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d8aa48db725a3181ddef9c414c22963
https://doi.org/10.2217/fon-2018-0476

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Identification of pathogenic retrotransposon insertions in cancer predisposition genes

Autor: Karla R. Bowles, Hannah C. Cox, Maria Elias, Krystal Brown, Benjamin B. Roa, Courtney Daniels, Debora Mancini-DiNardo, Thaddeus Judkins, Yaping Qian, Bradford Coffee, Nanda Singh, Jayson Holladay

Publikováno v: Cancer Genetics. :159-169

Cancer risks have been previously reported for some retrotransposon element (RE) insertions; however, detection of these insertions is technically challenging and very few oncogenic RE insertions have been reported. Here we evaluate RE insertions ide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da1978a832f3e55cd54d9feaa04a3121
https://doi.org/10.1016/j.cancergen.2017.08.002

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Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel

Autor: Debora Mancini-DiNardo, Scott Sizemore, Susan Manley, Bradford Coffee, Hannah C. Cox, Krystal Brown, John Kidd

Publikováno v: Cancer Genetics. 211:5-8

Next Generation Sequencing (NGS) multigene panels, which are routinely used to assess hereditary cancer risk, can detect both inherited germline variants and somatic variants in cancer-risk genes. We evaluated the frequency and distribution of likely

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe4f4bd5e74e63b29ba5108acabba65
https://doi.org/10.1016/j.cancergen.2017.01.002

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Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing

Autor: Thomas P. Slavin, Hannah C. Cox, Susan L. Neuhausen, Jeffrey N. Weitzel, Guido Marcucci, Bradford Coffee, Debora Mancini-DiNardo, Ryan Bernhisel, Jennifer Logan

Publikováno v: Cancer Genet

Next-generation sequencing (NGS) hereditary pan-cancer panel testing can identify somatic variants, which exhibit lower allele frequencies than do germline variants and may confound hereditary cancer predisposition testing. This analysis examined the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bae1704b0f5217cb22eda3a0e69dfe1
https://europepmc.org/articles/PMC6625900/

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