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Clinical presentation of patients with mutations in moderate penetrance genes: a case series
Descriptive
TitleInfo
Title
Clinical presentation of patients with mutations in moderate penetrance genes: a case series
Name
(type = personal)
NamePart
(type = family)
Morrissette
NamePart
(type = given)
Audrey L.
NamePart
(type = date)
1993-
DisplayForm
Audrey L. Morrissette
Role
RoleTerm
(authority = RULIB)
author
Name
(type = personal)
NamePart
(type = family)
Joines
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(type = given)
Jessica
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Jessica Joines
Affiliation
Advisory Committee
Role
RoleTerm
(authority = RULIB)
chair
Name
(type = personal)
NamePart
(type = family)
Heiman
NamePart
(type = given)
Gary
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Gary Heiman
Affiliation
Advisory Committee
Role
RoleTerm
(authority = RULIB)
internal member
Name
(type = personal)
NamePart
(type = family)
Vig
NamePart
(type = given)
Hetal
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Hetal Vig
Affiliation
Advisory Committee
Role
RoleTerm
(authority = RULIB)
internal 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
Genre
(authority = marcgt)
theses
OriginInfo
DateCreated
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2019
DateOther
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(qualifier = exact);
(type = degree)
2019-05
Language
LanguageTerm
(authority = ISO 639-3:2007);
(type = text)
English
Abstract
(type = abstract)
Although there is evidence in the literature of a connection between germline mutations in moderate penetrance genes and breast and/or ovarian cancer susceptibility, there is much to be discovered about genotype-phenotype correlations and cancer spectrums. This case series adds to the descriptive literature regarding clinical presentation and family history in patients with germline mutations in moderate penetrance breast and/or ovarian cancer genes. Eleven patients were included in this case series who were identified to have a pathogenic or likely pathogenic variant, in a moderate penetrance breast and/or ovarian cancer gene. Genes included ATM (n = 4), BARD1 (n = 1), CHEK2 (n = 2), PALB2 (n = 2), and RAD51C (n = 2). Results from this case series illustrate areas for future research and add to the existing knowledge regarding phenotype seen in patients who harbor pathogenic variants in moderate penetrance genes.
Subject
(authority = RUETD)
Topic
Microbiology and Molecular Genetics
RelatedItem
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TitleInfo
Title
Rutgers University Electronic Theses and Dissertations
Identifier
(type = RULIB)
ETD
Identifier
ETD_9658
PhysicalDescription
Form
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InternetMediaType
application/pdf
InternetMediaType
text/xml
Extent
1 online resource (iii, 42 pages) : illustrations
Note
(type = degree)
M.S.
Note
(type = bibliography)
Includes bibliographical references
Subject
(authority = LCSH)
Topic
Germ cells
Subject
(authority = LCSH)
Topic
Cancer -- Genetic aspects
RelatedItem
(type = host)
TitleInfo
Title
School of Graduate Studies Electronic Theses and Dissertations
Identifier
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rucore10001600001
Location
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(displayLabel = Rutgers, The State University of New Jersey)
NjNbRU
Identifier
(type = doi)
doi:10.7282/t3-k9bq-qw58
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
Morrissette
GivenName
Audrey
Role
Copyright Holder
RightsEvent
Type
Permission or license
DateTime
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(qualifier = exact);
(point = start)
2019-04-01 22:08:51
AssociatedEntity
Name
Audrey Morrissette
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.
Copyright
Status
Copyright protected
Availability
Status
Open
Reason
Permission or license
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Technical
RULTechMD
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ContentModel
ETD
OperatingSystem
(VERSION = 5.1)
windows xp
CreatingApplication
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1.4
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macOS Version 10.14.1 (Build 18B2107) Quartz PDFContext
DateCreated
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2019-04-02T02:02:24
DateCreated
(point = end);
(encoding = w3cdtf);
(qualifier = exact)
2019-04-02T02:02:24
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