Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Kelly Fulk"'
Publikováno v:
BMJ case reports. 15(4)
Despite advances in genetic testing for Lynch syndrome, nearly one quarter of mismatch repair-deficient (MMRd) colorectal and endometrial cancers remain unexplained. When added to germline DNA testing, RNA sequencing can increase diagnostic yield, im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a1c3e1964d11912acb8bead32569189
https://pubmed.ncbi.nlm.nih.gov/35487642
https://pubmed.ncbi.nlm.nih.gov/35487642
Autor:
Kelly Fulk, David E. Goldgar, Steven N. Hart, Tina Pesaran, Marcy E. Richardson, Chunling Hu, Kun Y. Lee, Fergus J. Couch, Elizabeth C. Chao, Ashley Deckman, Alvaro N.A. Monteiro, Kate Durda, Rohan Gnanaolivu, Eric C. Polley, Holly LaDuca
Publikováno v:
American Journal of Human Genetics
Summary Determination of the clinical relevance of rare germline variants of uncertain significance (VUSs) in the BRCA2 cancer predisposition gene remains a challenge as a result of limited availability of data for use in classification models. Howev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3741ce40310a372ba413ed0e1a66b4d
https://doi.org/10.1016/j.ajhg.2021.02.005
https://doi.org/10.1016/j.ajhg.2021.02.005
Autor:
Tina Pesaran, Elizabeth C. Chao, Jessica Profato, Holly LaDuca, Chia Ling Gau, Carolyn Horton, David E. Goldgar, Siddhartha Yadav, Jill S. Dolinsky, Jie Na, Lily Hoang, Melissa Pronold, Fergus J. Couch, Eric C. Polley, Chunling Hu, Brigette Tippin Davis, Laura Panos Smith, Stephanie Gutierrez, Amal Yussuf, Kelly Fulk, Steven N. Hart
Publikováno v:
Genetics in Medicine
Purpose Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications for testing and genes to include. Methods To inform the clinical approach to hereditary cancer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b95de2404409940db6205b678a73e8a
https://doi.org/10.1038/s41436-019-0633-8
https://doi.org/10.1038/s41436-019-0633-8
Autor:
Phillip Gray, Beth Souders, Swati Shah, Chia Ling Gau, Carla Mason, Megan L. Landsverk, Negar Ghahramani, Brittany Dougall, Brigette Tippin-Davis, Kory Jasperson, Stephanie Gutierrez, Melissa R.F. Truelson, Kelly Fulk, Elizabeth C. Chao, Jessica Profato, Daniel Chen, Melissa Pronold, Hsiao Mei Lu, Mary Helen Black, Holly LaDuca, Monalyn Umali Salvador
Publikováno v:
Journal of Clinical Oncology
PURPOSE The current diagnostic testing algorithm for Lynch syndrome (LS) is complex and often involves multiple follow-up germline and somatic tests. We aimed to describe the results of paired tumor/germline testing performed on a large cohort of pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd3843d83c1490e469a734034178320b
https://doi.org/10.1200/jco.18.00696
https://doi.org/10.1200/jco.18.00696
Publikováno v:
BMJ Case Reports. 15:e249580
Despite advances in genetic testing for Lynch syndrome, nearly one quarter of mismatch repair-deficient (MMRd) colorectal and endometrial cancers remain unexplained. When added to germline DNA testing, RNA sequencing can increase diagnostic yield, im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e779d09ef34665783bcc4e0a8e40cb8
https://doi.org/10.1136/bcr-2022-249580
https://doi.org/10.1136/bcr-2022-249580
Autor:
Kelly Fulk, Steven N. Hart, Elizabeth C. Chao, Eric C. Polley, Kate Durda, Rohan Gnanaolivu, David E. Goldgar, Marcy E. Richardson, Tina Pesaran, Chunling Hu, Holly LaDuca, Fergus J. Couch, Ashley Deckman, Kun Lee
Publikováno v:
Molecular Genetics and Metabolism. 132:S213-S214
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c64d099aa26687c32fd4409241059b1a
https://doi.org/10.1016/s1096-7192(21)00415-7
https://doi.org/10.1016/s1096-7192(21)00415-7
Autor:
Dajun Qian, Yuan Tian, Kory Jasperson, Mary Helen Black, Carin R. Espenschied, Holly LaDuca, Amal Yussuf, Kelly Fulk
Publikováno v:
Familial cancer. 18(2)
Whether monoallelic MUTYH mutations increase female breast cancer risk remains controversial. This study aimed to determine if monoallelic MUTYH mutations are associated with increased breast cancer risk in women undergoing multigene panel testing (M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58a7e2b4aee9179826dd45011bff1f38
https://pubmed.ncbi.nlm.nih.gov/30582135
https://pubmed.ncbi.nlm.nih.gov/30582135
Autor:
Michael P. Stany, Shuwei Li, Michael R. Milam, Holly LaDuca, Elizabeth C. Chao, Mary Helen Black, Amal Yussuf, Kelly Fulk
Publikováno v:
Gynecologic oncology. 152(3)
We explored the germline mutation spectrum and prevalence among 1650 women with breast and uterine cancer (BUC) who underwent multi-gene hereditary cancer panel testing at a single commercial laboratory.The combined frequency of mutations in 23 BC an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6aa69d26c460ac8f8b127fa560ff68c
https://pubmed.ncbi.nlm.nih.gov/30612783
https://pubmed.ncbi.nlm.nih.gov/30612783
Autor:
S. Shah, Kelly Fulk, M. Truelson, K. Jasperson, D. Chen, M. Umali, C. Mason, B. Souders, Leigha Senter
Publikováno v:
Gynecologic Oncology. 149:196-197
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fdbdca64c186fb9f674181e2a0c08dfe
https://doi.org/10.1016/j.ygyno.2018.04.447
https://doi.org/10.1016/j.ygyno.2018.04.447
Publikováno v:
Gynecologic Oncology. 149:226
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56e0f2c4d7b935562e4c27e5b336a3a6
https://doi.org/10.1016/j.ygyno.2018.04.510
https://doi.org/10.1016/j.ygyno.2018.04.510