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职业迁徙
个人简介
Sean V. Tavtigian, PhD, is a professor in the Department of Oncological Sciences at the University of Utah and a Huntsman Cancer Institute investigator. He is a co-leader of the Cancer Control and Population Sciences Program and Director of the Huntsman Center for Cancer Genetics. Research in Tavtigian's lab concentrates on two areas of genetic susceptibility to cancer. The first is identification and characterization of intermediate-risk and high-risk cancer susceptibility genes. The second is analysis of unclassified variants that are observed during the clinical testing of established high-risk cancer susceptibility genes.
Historically, most of the known high-risk cancer susceptibility genes were found either by linkage analysis/ positional cloning or by mutation screening of established high-risk susceptibility genes' biochemical pathway "nearest-neighbors". While the linkage analysis/ positional cloning approach is nearly obsolete, next-generation sequencing enables a number of new strategies for gene identification. One of these is whole-exome mutation screening in pedigrees as a method to identify relatively high-risk susceptibility genes. Another is biochemical pathway-based mutation screening in a case-control format as a method to identify intermediate-risk susceptibility genes. We are pursuing breast cancer, colorectal cancer, and head & neck cancer genetics projects in these areas.
Research Interests
Cancer Susceptibility Genes
Evaluation of Variants of Uncertain Significance
Breast Cancer
Ovarian Cancer
Colorectal Cancer Genetics
研究兴趣
论文共 262 篇作者统计合作学者相似作者
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Leslie G. Biesecker,Alicia B. Byrne,Steven M. Harrison, Tina Pesaran, Alejandro A. Schaeffer,Brian H. Shirts,Sean V. Tavtigian,Heidi L. Rehm
AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024)
Genetics in Medicine Open (2024): 101616
Michael T. Parsons,Miguel de la Hoya, Marcy E. Richardson,Emma Tudini,Michael Anderson, Windy Berkofsky-Fessler,Sandrine M. Caputo, Raymond C. Chan,Melissa C. Cline,Bing-Jian Feng,Cristina Fortuno,Encarna Gomez-Garcia,
medrxiv(2024)
Cristina Fortuno,Kyriaki Michailidou,Michael Parsons, Jill S Dolinsky,Tina Pesaran, Amal Yussuf,Jessica L Mester,Kathleen S Hruska,Susan Hiraki, Robert O'Connor,Raymond C Chan,Serra Kim,
Human molecular geneticsno. 8 (2024): 724-732
The American Journal of Human Geneticsno. 1 (2024): 24-38
medRxiv : the preprint server for health sciences (2024)
Sarah L Stenton,Vikas Pejaver,Timothy Bergquist,Leslie G Biesecker,Alicia B Byrne, Emily Nadeau,Marc S Greenblatt,Steven Harrison,Sean Tavtigian,Predrag Radivojac,Steven E Brenner, Anne O'Donnell-Luria
medRxiv : the preprint server for health sciences (2024)
Genetics in Medicine Open (2024): 101625
JOURNAL OF WOMENS HEALTHno. 11 (2023): A10-A10
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Kangjian Wu, Shannon R. Hinson,Akihiro Ohashi,Daniel Farrugia, Patricia Wendt,Sean V. Tavtigian, Amie Deffenbaugh,David Goldgar,Fergus J. Couch
crossref(2023)
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