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Patient presentations with a Li-Fraumeni syndrome diagnosis through different ascertainment methods: a case series
Descriptive
TitleInfo
Title
Patient presentations with a Li-Fraumeni syndrome diagnosis through different ascertainment methods: a case series
Name
(type = personal)
NamePart
(type = family)
Weston
NamePart
(type = given)
Julia
NamePart
(type = date)
1996
DisplayForm
Weston, Julia, 1996-
Role
RoleTerm
(authority = RULIB);
(type = text)
author
Name
(type = personal)
NamePart
(type = family)
Heiman
NamePart
(type = given)
Gary
DisplayForm
Gary Heiman
Affiliation
Advisory Committee
Role
RoleTerm
(authority = RULIB)
chair
Name
(type = personal)
NamePart
(type = family)
Joines
NamePart
(type = given)
Jessica R
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Jessica R Joines
Affiliation
Advisory Committee
Role
RoleTerm
(authority = RULIB)
internal member
Name
(type = personal)
NamePart
(type = family)
Seymour
NamePart
(type = given)
Christy
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Christy Seymour
Affiliation
Advisory Committee
Role
RoleTerm
(authority = RULIB)
internal member
Name
(type = personal)
NamePart
(type = family)
Buchanan
NamePart
(type = given)
Adam
DisplayForm
Adam Buchanan
Affiliation
Advisory Committee
Role
RoleTerm
(authority = RULIB)
outside member
Name
(type = personal)
NamePart
(type = family)
Rahm
NamePart
(type = given)
Alanna
DisplayForm
Alanna Rahm
Affiliation
Advisory Committee
Role
RoleTerm
(authority = RULIB)
outside member
Name
(type = corporate)
NamePart
Rutgers University
Role
RoleTerm
(authority = RULIB)
degree grantor
Name
(type = corporate)
NamePart
School of Graduate Studies
Role
RoleTerm
(authority = RULIB)
school
TypeOfResource
Text
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theses
OriginInfo
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2020
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2020-05
Language
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(type = text)
English
Abstract
(type = abstract)
Li-Fraumeni syndrome is a well characterized cancer syndrome with high risk of multiple types of cancers. However, little is known about etiology of TP53 variants when patients are ascertained through genomic screening versus cancer clinics. This case series analyzes the personal and family histories of patients diagnosed with a TP53 pathogenic or likely pathogenic variant in order to add to the descriptive literature surrounding patients with TP53 variants of suspected somatic etiology, likely due to clonal hematopoiesis of indeterminate potential (CHIP). Retrospective chart reviews were performed on twenty-two patients, ascertained through a cancer clinic and a genomic screening program. Results indicate patients over the age of sixty with limited personal and family history have variants suggestive of somatic etiology due to CHIP or mosaicism and may benefit from confirmatory or cascade genetic testing.
Subject
(authority = local)
Topic
Li-Fraumeni syndrome
Subject
(authority = RUETD)
Topic
Microbiology and Molecular Genetics
RelatedItem
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TitleInfo
Title
Rutgers University Electronic Theses and Dissertations
Identifier
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ETD
Identifier
ETD_10606
PhysicalDescription
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application/pdf
InternetMediaType
text/xml
Extent
1 online resource (iv, 25 pages)
Note
(type = degree)
M.S.
Note
(type = bibliography)
Includes bibliographical references
RelatedItem
(type = host)
TitleInfo
Title
School of Graduate Studies Electronic Theses and Dissertations
Identifier
(type = local)
rucore10001600001
Location
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(displayLabel = Rutgers, The State University of New Jersey)
NjNbRU
Identifier
(type = doi)
doi:10.7282/t3-jsxp-6480
Genre
(authority = ExL-Esploro)
ETD graduate
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Rights
RightsDeclaration
(ID = rulibRdec0006)
The author owns the copyright to this work.
RightsHolder
(type = personal)
Name
FamilyName
Weston
GivenName
Julia
Role
Copyright Holder
RightsEvent
Type
Permission or license
DateTime
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(qualifier = exact);
(point = start)
2020-03-12 12:03:57
AssociatedEntity
Name
Julia Weston
Role
Copyright holder
Affiliation
Rutgers University. School of Graduate Studies
AssociatedObject
Type
License
Name
Author Agreement License
Detail
I hereby grant to the Rutgers University Libraries and to my school the non-exclusive right to archive, reproduce and distribute my thesis or dissertation, in whole or in part, and/or my abstract, in whole or in part, in and from an electronic format, subject to the release date subsequently stipulated in this submittal form and approved by my school. I represent and stipulate that the thesis or dissertation and its abstract are my original work, that they do not infringe or violate any rights of others, and that I make these grants as the sole owner of the rights to my thesis or dissertation and its abstract. I represent that I have obtained written permissions, when necessary, from the owner(s) of each third party copyrighted matter to be included in my thesis or dissertation and will supply copies of such upon request by my school. I acknowledge that RU ETD and my school will not distribute my thesis or dissertation or its abstract if, in their reasonable judgment, they believe all such rights have not been secured. I acknowledge that I retain ownership rights to the copyright of my work. I also retain the right to use all or part of this thesis or dissertation in future works, such as articles or books.
RightsEvent
Type
Embargo
DateTime
(encoding = w3cdtf);
(qualifier = exact);
(point = start)
2020-05-31
DateTime
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(qualifier = exact);
(point = end)
2020-11-30
Detail
Access to this PDF has been restricted at the author's request. It will be publicly available after November 30th, 2020.
Copyright
Status
Copyright protected
Availability
Status
Open
Reason
Permission or license
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Technical
RULTechMD
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ContentModel
ETD
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windows xp
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1.3
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macOS Version 10.15.3 (Build 19D76) Quartz PDFContext
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2020-03-12T17:42:28
DateCreated
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2020-03-12T17:42:28
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