Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Lily Hoang"'
Autor:
Carolyn Horton, Ashley Cass, Blair R. Conner, Lily Hoang, Heather Zimmermann, Nelly Abualkheir, David Burks, Dajun Qian, Bhuvan Molparia, Huy Vuong, Holly LaDuca, Jessica Grzybowski, Kate Durda, Robert Pilarski, Jessica Profato, Katherine Clayback, Martin Mahoney, Courtney Schroeder, Wilfredo Torres-Martinez, Aaron Elliott, Elizabeth C. Chao, Rachid Karam
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-6 (2022)
Abstract DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those located far from coding sequences. H
Externí odkaz:
https://doaj.org/article/b29d2bc716fe4104ad948a0a2f404b6d
Autor:
Tiffiney R. Hartman, Elena V. Demidova, Randy W. Lesh, Lily Hoang, Marcy Richardson, Andrea Forman, Lisa Kessler, Virginia Speare, Erica A. Golemis, Michael J. Hall, Mary B. Daly, Sanjeevani Arora
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Abstract Pathogenic variants (PVs) in multiple genes are known to increase the risk of early-onset renal cancer (eoRC). However, many eoRC patients lack PVs in RC-specific genes; thus, their genetic risk remains undefined. Here, we determine if PVs i
Externí odkaz:
https://doaj.org/article/2fc011ae6b1b4fdcabeb4fe468c8545c
Autor:
Tyler Landrith, Bing Li, Ashley A. Cass, Blair R. Conner, Holly LaDuca, Danielle B. McKenna, Kara N. Maxwell, Susan Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan M. Depas, Shraddha Gaonkar, Sara Pirzadeh-Miller, Rebekah Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda C. Ganzak, Sitao Wu, Huy Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao-Mei Lu, Brigette Tippin-Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam
Publikováno v:
npj Precision Oncology, Vol 4, Iss 1, Pp 1-9 (2020)
Abstract Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patient
Externí odkaz:
https://doaj.org/article/50f2e0c212b24359a87e5f0fd59980ac
Autor:
Robert T Pilarski, Stephanie Noble, Lily Hoang, Randy Hew, Stephanie Gandomi, Holly LaDuca, Jill Dolinsky
Publikováno v:
Cancer Research. 82:P2-09
Background: The National Comprehensive Cancer Network guideline on Genetic/Familial High Risk: Breast, Ovarian and Pancreatic Cancer (NCCN) recommends offering increased screening and risk-reduction options to women with a pathogenic/likely pathogeni
Autor:
Heather Fecteau, Haley Keller, Carrie Horton, Carrie Milliard, Robert Pilarski, Lukas Lyon, Lily Hoang, Shannon Kieran
Publikováno v:
Cancer Research. 83:P6-02
Background Developing an effective approach to the identification of individuals at increased cancer risk is key to preventing and/or providing early diagnosis of cancer. However, outside of targeted genetics clinics, under identification of individu
Autor:
Jill S. Dolinsky, Tina Pesaran, Carolyn Horton, Rachid Karam, Lily Hoang, Tameron Harvell, Holly LaDuca, Jessica Profato
Publikováno v:
Cancer Research. 81:PD10-07
Background: DNA genetic testing is commonly used to inform treatment decisions for breast cancer patients. In recent years, RNA genetic testing has shown promise for increasing the detection of disease-causing variants and decreasing inconclusive res
Autor:
Allison W. Kurian, Paul Abrahamse, Kevin C. Ward, Ann S. Hamilton, Dennis Deapen, Jonathan S. Berek, Lily Hoang, Amal Yussuf, Jill Dolinsky, Krystal Brown, Thomas Slavin, Timothy P. Hofer, Steven J. Katz
Publikováno v:
JCO Precis Oncol
PURPOSE Family cancer history is an important component of genetic testing guidelines that estimate which patients with breast cancer are most likely to carry a germline pathogenic variant (PV). However, we do not know whether more extensive family h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2736c2ada75f49bcc08deae9fff4ebe4
https://europepmc.org/articles/PMC8710333/
https://europepmc.org/articles/PMC8710333/
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
Autor:
Lily Hoang, Chia-Ling Gau, Kelly McGoldrick, Virginia Speare, Mary Helen Black, Huma Q. Rana, Judy Garber, Jacob Clifford, Shuwei Li, Jill S. Dolinsky, Holly LaDuca
Publikováno v:
Genetics in Medicine. 21:2478-2484
Panel testing has led to the identification of TP53 pathogenic/likely pathogenic (P/LP) variant carriers (TP53+) who exhibit a broad range of phenotypes. We sought to evaluate and compare genotype–phenotype associations among TP53+ panel-ascertaine
Autor:
Paul A. James, Amanda B. Spurdle, Victoria Beshay, Jill S. Dolinsky, Jeffrey N. Weitzel, Kelly McGoldrick, Tina Pesaran, Huei San Leong, Lily Hoang, Cristina Fortuno
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(3)
Some variants identified by multigene panel testing of DNA from blood present with low variant allele fraction (VAF), often a manifestation of clonal hematopoiesis. Research has shown that the proportion of variants with low VAF is especially high in