Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Debora Mancini-Dinardo"'
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
Autor:
Debora Mancini-DiNardo, Thaddeus Judkins, John Kidd, Ryan Bernhisel, Courtney Daniels, Krystal Brown, Kirsten Meek, Jonathan Craft, Jayson Holladay, Brian Morris, Benjamin B. Roa
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-9 (2019)
Abstract Background Healthcare providers increasingly use information about pathogenic variants in cancer predisposition genes, including sequence variants and large rearrangements (LRs), in medical management decisions. While sequence variant detect
Externí odkaz:
https://doaj.org/article/b4301df67a684499a99d884ff1499575
Autor:
Melanie A. Jones, Kirsten M. Timms, Shanell Hatcher, Elizabeth S. Cogan, Matthew S. Comeaux, Michael Perry, Brian Morris, Brad Swedlund, Cathy E. Elks, Pierre Lao‐Sirieix, Simon Dearden, Coumaran Egile, Jessica S. Brown, Elizabeth A. Harrington, Darren Hodgson, Matt Stern, Thomas P. Slavin, Debora Mancini‐DiNardo
Publikováno v:
Genes, Chromosomes and Cancer.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f78f5a2b017fe7738d7071149527145
https://doi.org/10.1002/gcc.23150
https://doi.org/10.1002/gcc.23150
Autor:
Hillary Zalaznick, Benjamin Clegg, Elizabeth Cogan, Michael Perry, Jeffrey Trost, Debora Mancini-DiNardo, Alexander Gutin, Jerry Lanchbury, Kirsten Timms
Publikováno v:
Gynecologic Oncology. 166:S86-S87
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::885e25028e85fc1989743b249a6e19ef
https://doi.org/10.1016/s0090-8258(22)01365-8
https://doi.org/10.1016/s0090-8258(22)01365-8
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
https://doi.org/10.1002/humu.23910
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
https://doi.org/10.2217/fon-2018-0476
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
https://doi.org/10.1016/j.cancergen.2017.08.002
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
https://doi.org/10.1016/j.cancergen.2017.01.002
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/
https://europepmc.org/articles/PMC6625900/
Autor:
Melanie Jones, Debora Mancini-DiNardo, Ryan Bernhisel, John Kidd, Randi Rawson, Karen Copeland, Matthew Comeaux, Eric Rosenthal
Publikováno v:
Journal of Clinical Oncology. 38:e13653-e13653
e13653 Background: The HOXB13 c.251G > A (p.G84E) variant is associated with increased prostate cancer risk, possibly at younger ages. Studies on this variant have focused primarily on men, although genetic testing for hereditary cancer risk is most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::514592eb49c9c927033a3dccb9adeb8c
https://doi.org/10.1200/jco.2020.38.15_suppl.e13653
https://doi.org/10.1200/jco.2020.38.15_suppl.e13653