Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches:
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| Sprache: | English |
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| Beschreibung: | III, 75 Seiten Illustrationen |
Internformat
MARC
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| 100 | 1 | |a Weber-Lassalle, Nana-Maureen |e Verfasser |0 (DE-588)1212878639 |4 aut | |
| 245 | 1 | 0 | |a Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches |c vorgelegt von Nana-Maureen Weber-Lassalle |
| 264 | 3 | |a Köln |b Hundt Druck |c 2020 | |
| 300 | |a III, 75 Seiten |b Illustrationen | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 502 | |b Dissertation |c Universität zu Köln |d 2020 | ||
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| 856 | 4 | 2 | |m DNB Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032342134&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
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Datensatz im Suchindex
| _version_ | 1804181829645762560 |
|---|---|
| adam_text | CONTENT
ABBREVIATIONS
.........................................................................................................................................
I
LIST
OF
FIGURES
........................................................................................................................................
ILL
LIST
OF
TABLES
.........................................................................................................................................
ILL
1
LIST
OF
PUBLICATIONS
......................................................................................................................
1
1.1
MAIN
PUBLICATIONS
...................................................................................................................
1
1.2
ADDITIONAL
PUBLICATIONS
...........................................................................................................
1
2
MEETING
ABSTRACTS
(TALKS/POSTER
PRESENTATIONS)
...........................................
2
3
AWARDS
............................................................................................................................................
3
4
SUMMARY
.........................................................................................................................................
4
4.1
ABSTRACT
....................................................................................................................................
4
4.2
ZUSAMMENFASSUNG
.................................................................................................................
7
5
INTRODUCTION
.................................................................................................................................10
5.1
BREAST
CANCER
INCIDENCE,
SURVIVAL
AND
SUBTYPES
............................................................
10
5.1.1
HISTOPATHOLOGICAL
CLASSIFICATION
OF
FEMALE
BREAST
CANCER
..........................................
10
5.1.1.1
TESTING
HORMONE
RECEPTOR
STATUS
IN
BREAST
CANCER
............................................
10
5.1.1.2
TESTING
HER2
STATUS
IN
BREAST
CANCER
..................................................................
10
5.1.1.3
CLINICALLY
RELEVANT
MOLECULAR
SUBGROUPS
BASED
ON
ER,
PR,
AND
HER2
STATUS
.
...................................................................................................................
11
5.1.1.4
IMPORTANCE
OF
MOLECULAR
SUBGROUPS
FOR
THE
TREATMENT
OF
BREAST
CANCER
........
11
5.2
OVARIAN
CANCER
INCIDENCE,
SURVIVAL
AND
SUBTYPES
..........................................................
12
5.2.1
HISTOPATHOLOGICAL
CLASSIFICATION
OF
OVARIAN
CANCER
....................................................
13
5.3
HEREDITARY
BREAST
AND
OVARIAN
CANCER
...............................................................................
14
5.3.1
THE
HIGH-RISK
GENES
FOR
HEREDITARY
BREAST
AND
OVARIAN
CANCER:
BREAST
CANCER
1
(BRCA1)
AND
BREAST
CANCER
2
(BRCA2)
.....................................................................
14
5.3.1.1
FEMALE
CARRIERS
OF
PATHOGENIC
BRCA
1
AND
BRCA2
VARIANTS
HAVE
AN
INCREASED
LIFETIME
RISK
FOR
BREAST
AND
OVARIAN
CANCER
...........................................
14
5.3.2
BEYOND
BRCA1
AND
BRCA2:
FURTHER
RISK
GENES
AND
SINGLE
NUCLEOTIDE
POLYMORPHISMS
ARE
ASSOCIATED
WITH
HEREDITARY
BREAST
AND/OR
OVARIAN
CANCER
....
15
5.3.3
INCLUSION
CRITERIA
OF
THE
GERMAN
CONSORTIUM
FOR
HEREDITARY
BREAST
AND
OVARIAN
CANCER
(GC-HBOC)
FOR
GENETIC
GERMLINE
TESTING
.......................................................
16
CONTENT
5.3.4
THE
TRURISK
GENE
PANEL
OF
THE
GERMAN
CONSORTIUM
FOR
HEREDITARY
BREAST
AND
OVARIAN
CANCER
(GC-HBOC)
........................................................................................
17
5.3.5
WOMEN
WITH
A
FAMILIAL
PREDISPOSITION
FOR
BREAST
AND
OVARIAN
CANCER
OFTEN
SHOW
A
YOUNGER
AGE
AT
FIRST
DIAGNOSIS
......................................................................................
18
5.3.6
BREAST
AND
OVARIAN
CANCER
PREVENTION
.........................................................................
19
5.4
PATIENT
AND
CONTROL
SAMPLES
FOR
THE
PHD
PROJECT
............................................................
20
5.4.1
THE
GERMAN
CONSORTIUM
FOR
HEREDITARY
BREAST
AND
OVARIAN
CANCER
(GC-HBOC)
PATIENT
SAMPLE,
DNA
BIOBANK
AND
PATIENT
DATABASE
................................................
20
5.4.2
GENE
SELECTION
AND
PATIENT
SAMPLE
FOR
LARGE
INTERNATIONAL
PROJECTS:
BRIDGES/PERSPECTIVE
............................................................................................
20
5.4.3
CONTROL
SAMPLES
AND
CONTROL
DATA
AVAILABLE
FOR
CASE-CONTROL
STUDIES
....................
22
6
AIMS
OF
THE
PHD
THESIS
............................................................................................................
23
7
MAJOR
FINDINGS
.............................................................................................................................
24
8
PUBLISHED
MAIN
INVESTIGATIONS
..............................................................................................
25
8.1
GERMLINE
LOSS-OF-FUNCTION
VARIANTS
IN
THE
BARD1
GENE
ARE
ASSOCIATED
WITH
EARLY-ONSET
FAMILIAL
BREAST
CANCER
BUT
NOT
OVARIAN
CANCER
(WEBER-LASSALLE
ET
AL.
(2019)
BREAST
CANCER
RES.,
APR
29;21
(1
):55,
HTTPS://DOI.ORG/10.11
86/S1
3058-019-1137-9
;
COPYRIGHT
2019,
SPRINGER
NATURE)
.................................................................................................
25
8.1.1
OWN
CONTRIBUTIONS
...........................................................................................................
26
8.1.2
CONTRIBUTIONS
OF
CO-AUTHORS
...........................................................................................
27
8.2
BRIP1
LOSS-OF-FUNCTION
MUTATIONS
CONFER
HIGH
RISK
FOR
FAMILIAL
OVARIAN
CANCER,
BUT
NOT
FAMILIAL
BREAST
CANCER
(WEBER-LASSALLE
ET
AL.
(2018)
BREAST
CANCER
RES.,
JAN
24;20(1):7,
HTTPS://DOI.ORG/10.1186/S13058-018-0935-9
;
COPYRIGHT
2018,
SPRINGER
NATURE)
.................................................................................................................................
29
8.2.1
OWN
CONTRIBUTIONS
...........................................................................................................
30
8.2.2
CONTRIBUTIONS
OF
CO-AUTHORS
...........................................................................................
31
9
PUBLISHED
ADDITIONAL
INVESTIGATIONS
.....................................................................................
33
9.1
ASSOCIATION
OF
GERMLINE
VARIANT
STATUS
WITH
THERAPY
RESPONSE
IN
HIGH-RISK
EARLY-
STAGE
BREAST
CANCER:
A
SECONDARY
ANALYSIS
OF
THE
GEPAROCTO
RANDOMIZED
CLINICAL
TRIAL
(POHL-RESCIGNO
ET
AL.
(2020)
JAMA
ONCOL.,
PUBLISHED
ONLINE
MARCH
12,
DOI:10.1001/JAMAONCOL.2020.0007.
[EPUB
AHEAD
OF
PRINT];
COPYRIGHT
2020,
AMERICAN
MEDICAL
ASSOCIATION)
...........................................................................
33
CONTENT
9.1.1
OWN
CONTRIBUTIONS
34
9.2
THE
GPRC5A
FRAMESHIFT
VARIANT
C.183DEL
IS
NOT
ASSOCIATED
WITH
INCREASED
BREAST
CANCER
RISK
IN
BRCA1
MUTATION
CARRIERS
(KLASCHIK
ET
AL.
(2019)
INT
J
CANCER.,
APR
1
;144(7):1
761-1763,
HTTPS://DOI.ORG/10.1002/IJC.32016
;
COPYRIGHT
2018,
UICC;
PUBLISHER:
JOHN
WILEY
AND
SONS)
35
9.2.1
OWN
CONTRIBUTIONS
35
9.3
GENE
PANEL
TESTING
OF
5589
BRCA
7/2-NEGATIVE
INDEX
PATIENTS
WITH
BREAST
CANCER
IN
A
ROUTINE
DIAGNOSTIC
SETTING:
RESULTS
OF
THE
GERMAN
CONSORTIUM
FOR
HEREDITARY
BREAST
AND
OVARIAN
CANCER
(HAUKE
ET
AL,
(2018)
CANCER
MED.,
APR;7(4):
1349-1358,
HTTPS://DOI.ORG/10.1002/CAM4.1376
;
COPYRIGHT2018,
JOHN
WILEY
&
SONS
LTD.).
...36
9.3.1
OWN
CONTRIBUTIONS
36
9.4
DIAGNOSIS
OF
LI-FRAUMENI
SYNDROME:
DIFFERENTIATING
TP53
GERMLINE
MUTATIONS
FROM
CLONAL
HEMATOPOIESIS:
RESULTS
OF
THE
OBSERVATIONAL
AGO-TR1
TRIAL
(WEBER-LASSALLE
ET
AL.
(2018)
HUM
MUTAT.,
DEC;39(12):2040-2046,
HTTPS://DOI.ORG/10.1002/HUMU.23653
;
COPYRIGHT
2018
WILEY
PERIODICALS,
INC.;
PUBLISHER:
JOHN
WILEY
AND
SONS)
37
9.4.1
OWN
CONTRIBUTIONS
37
10
UNPUBLISHED
MAIN
INVESTIGATIONS
38
10.1
PRELIMINARY
RESULTS
OF
THE
PERSPECTIVE
CASE-CONTROL
STUDY:
IDENTIFICATION
OF
NEW
CANDIDATE
BREAST
CANCER
RISK
GENES
ALMOST
NOT
BELONGING
TO
THE
DNA
REPAIR
PATHWAY
WITH
EXCEPTION
OF
NTHL1
AND
CTBP1
38
10.1.1
OWN
CONTRIBUTIONS
41
10.1.2
CONTRIBUTIONS
OF
CO-AUTHORS
42
11
DISCUSSION
OF
MAIN
INVESTIGATIONS
44
11.1
BARD1
AND
BRIP1
ARE
INCORPORATED
AS
NOVEL
*
CORE
GENES
*
INTO
THE
TRURISK
GENE
PANEL
VERSION
3
OF
THE
GC-HBOC
44
11.2
THE
EXOME-WIDE
PERSPECTIVE
APPROACH:
IDENTIFICATION
OF
NEW
CANDIDATE
BREAST
CANCER
RISK
GENES
NOT
BELONGING
TO THE
DNA
REPAIR
PATHWAY
WITH
EXCEPTION
OF
NTHL1
AND
CTBP1
45
11.2.1
THE
BONFERRONI
CORRECTION
IS
APPLIED
TO
COUNTERACT
THE
PROBLEM
OF
MULTIPLE
COMPARISONS
45
11.2.2
DESCRIPTION
OF
NEW
CANDIDATE
RISK
GENES
FOR
BREAST
CANCER
46
CONTENT
11.2.2.1
MARCO
ENCODES
A
PROTEIN
THAT
PLAYS
A
ROLE
IN
THE
INNATE
ANTIMICROBIAL
IMMUNE
SYSTEM
47
11.2.2.2
PIK3CG
ENCODES
A
PROTEIN
INVOLVED
IN
THE
IMMUNE
RESPONSE
BY
REGULATING
THYMOCYTE
DEVELOPMENT,
T-CELL
ACTIVATION,
NEUTROPHIL
MIGRATION,
AND
THE
OXIDATIVE
BURST
47
11.2.2.3
RNF181
ENCODES
A
PROTEIN
THAT
BINDS
TO
THE
INTEGRIN
ALPHA-LIB
COMPLEX
AND
POSSESSES
AN
E3
UBIQUITIN
LIGASE
ACTIVITY
48
11.2.2.4
TMEM161A
ENCODES
A
PROTEIN
THAT
IS
INVOLVED
IN
PROTECTION
AGAINST
OXIDATIVE
STRESS
49
11.2.2.5
ZWINT
ENCODES
A
PROTEIN
THAT
PLAYS
A
ROLE
IN
KINETOCHORE
FUNCTION
49
11.2.2.6
BPTF
ENCODES
A
PROTEIN
THAT
IS
INVOLVED
IN
THE REGULATION
OF
TRANSCRIPTION
DURING
PROLIFERATION
49
11.2.2.7
C4ORF48,
ENCODING
A
CANDIDATE
NEUROPEPTIDE,
IS
EXPRESSED
DURING
NEOCORTEX
AND
CEREBELLAR
DEVELOPMENT
50
11.2.2.8
CTBP1
ENCODES
A
TRANSCRIPTIONAL
REGULATOR
INTERACTING
WITH
CHROMATIN
MODIFYING
ENZYMES
TO
MODULATE
GENE
EXPRESSION
IN
MULTIPLE
CELLULAR
PATHWAYS
50
11.2.2.9
FHL3
ENCODES
A
PROTEIN
THAT
MAY
BE
INVOLVED
IN
TUMOR
SUPPRESSION
BY
INTERACTING
WITH
THE
CANCER
DEVELOPMENTAL
REGULATORS
SMAD2,
SMAD3,
AND
SMAD4
51
11.2.2.10
NTHL
1
ENCODES
A
DNA
N-GLYCOSYLASE
OF
THE
ENDONUCLEASE
III
FAMILY
THAT
INITIATES
DNA
BASE
EXCISION
REPAIR
52
11.2.2.11SLC2A8
ENCODES
A
CYTOPLASMIC
GLUCOSE
TRANSPORTER
52
11.2.3
PATHOGENIC
VARIANTS
IN
NEW
CANDIDATE
RISK
GENES
FOR
BREAST
CANCER
CLUSTER
IN
FUNCTIONAL
DOMAINS
OF
THE
PROTEIN
53
12
CONCLUSION
55
13
OUTLOOK
55
14
REFERENCES
57
15
ACKNOWLEDGEMENTS
72
16
ERKLSRUNG
|
| adam_txt |
CONTENT
ABBREVIATIONS
.
I
LIST
OF
FIGURES
.
ILL
LIST
OF
TABLES
.
ILL
1
LIST
OF
PUBLICATIONS
.
1
1.1
MAIN
PUBLICATIONS
.
1
1.2
ADDITIONAL
PUBLICATIONS
.
1
2
MEETING
ABSTRACTS
(TALKS/POSTER
PRESENTATIONS)
.
2
3
AWARDS
.
3
4
SUMMARY
.
4
4.1
ABSTRACT
.
4
4.2
ZUSAMMENFASSUNG
.
7
5
INTRODUCTION
.10
5.1
BREAST
CANCER
INCIDENCE,
SURVIVAL
AND
SUBTYPES
.
10
5.1.1
HISTOPATHOLOGICAL
CLASSIFICATION
OF
FEMALE
BREAST
CANCER
.
10
5.1.1.1
TESTING
HORMONE
RECEPTOR
STATUS
IN
BREAST
CANCER
.
10
5.1.1.2
TESTING
HER2
STATUS
IN
BREAST
CANCER
.
10
5.1.1.3
CLINICALLY
RELEVANT
MOLECULAR
SUBGROUPS
BASED
ON
ER,
PR,
AND
HER2
STATUS
.
.
11
5.1.1.4
IMPORTANCE
OF
MOLECULAR
SUBGROUPS
FOR
THE
TREATMENT
OF
BREAST
CANCER
.
11
5.2
OVARIAN
CANCER
INCIDENCE,
SURVIVAL
AND
SUBTYPES
.
12
5.2.1
HISTOPATHOLOGICAL
CLASSIFICATION
OF
OVARIAN
CANCER
.
13
5.3
HEREDITARY
BREAST
AND
OVARIAN
CANCER
.
14
5.3.1
THE
HIGH-RISK
GENES
FOR
HEREDITARY
BREAST
AND
OVARIAN
CANCER:
BREAST
CANCER
1
(BRCA1)
AND
BREAST
CANCER
2
(BRCA2)
.
14
5.3.1.1
FEMALE
CARRIERS
OF
PATHOGENIC
BRCA
1
AND
BRCA2
VARIANTS
HAVE
AN
INCREASED
LIFETIME
RISK
FOR
BREAST
AND
OVARIAN
CANCER
.
14
5.3.2
BEYOND
BRCA1
AND
BRCA2:
FURTHER
RISK
GENES
AND
SINGLE
NUCLEOTIDE
POLYMORPHISMS
ARE
ASSOCIATED
WITH
HEREDITARY
BREAST
AND/OR
OVARIAN
CANCER
.
15
5.3.3
INCLUSION
CRITERIA
OF
THE
GERMAN
CONSORTIUM
FOR
HEREDITARY
BREAST
AND
OVARIAN
CANCER
(GC-HBOC)
FOR
GENETIC
GERMLINE
TESTING
.
16
CONTENT
5.3.4
THE
TRURISK
GENE
PANEL
OF
THE
GERMAN
CONSORTIUM
FOR
HEREDITARY
BREAST
AND
OVARIAN
CANCER
(GC-HBOC)
.
17
5.3.5
WOMEN
WITH
A
FAMILIAL
PREDISPOSITION
FOR
BREAST
AND
OVARIAN
CANCER
OFTEN
SHOW
A
YOUNGER
AGE
AT
FIRST
DIAGNOSIS
.
18
5.3.6
BREAST
AND
OVARIAN
CANCER
PREVENTION
.
19
5.4
PATIENT
AND
CONTROL
SAMPLES
FOR
THE
PHD
PROJECT
.
20
5.4.1
THE
GERMAN
CONSORTIUM
FOR
HEREDITARY
BREAST
AND
OVARIAN
CANCER
(GC-HBOC)
PATIENT
SAMPLE,
DNA
BIOBANK
AND
PATIENT
DATABASE
.
20
5.4.2
GENE
SELECTION
AND
PATIENT
SAMPLE
FOR
LARGE
INTERNATIONAL
PROJECTS:
BRIDGES/PERSPECTIVE
.
20
5.4.3
CONTROL
SAMPLES
AND
CONTROL
DATA
AVAILABLE
FOR
CASE-CONTROL
STUDIES
.
22
6
AIMS
OF
THE
PHD
THESIS
.
23
7
MAJOR
FINDINGS
.
24
8
PUBLISHED
MAIN
INVESTIGATIONS
.
25
8.1
GERMLINE
LOSS-OF-FUNCTION
VARIANTS
IN
THE
BARD1
GENE
ARE
ASSOCIATED
WITH
EARLY-ONSET
FAMILIAL
BREAST
CANCER
BUT
NOT
OVARIAN
CANCER
(WEBER-LASSALLE
ET
AL.
(2019)
BREAST
CANCER
RES.,
APR
29;21
(1
):55,
HTTPS://DOI.ORG/10.11
86/S1
3058-019-1137-9
;
COPYRIGHT
2019,
SPRINGER
NATURE)
.
25
8.1.1
OWN
CONTRIBUTIONS
.
26
8.1.2
CONTRIBUTIONS
OF
CO-AUTHORS
.
27
8.2
BRIP1
LOSS-OF-FUNCTION
MUTATIONS
CONFER
HIGH
RISK
FOR
FAMILIAL
OVARIAN
CANCER,
BUT
NOT
FAMILIAL
BREAST
CANCER
(WEBER-LASSALLE
ET
AL.
(2018)
BREAST
CANCER
RES.,
JAN
24;20(1):7,
HTTPS://DOI.ORG/10.1186/S13058-018-0935-9
;
COPYRIGHT
2018,
SPRINGER
NATURE)
.
29
8.2.1
OWN
CONTRIBUTIONS
.
30
8.2.2
CONTRIBUTIONS
OF
CO-AUTHORS
.
31
9
PUBLISHED
ADDITIONAL
INVESTIGATIONS
.
33
9.1
ASSOCIATION
OF
GERMLINE
VARIANT
STATUS
WITH
THERAPY
RESPONSE
IN
HIGH-RISK
EARLY-
STAGE
BREAST
CANCER:
A
SECONDARY
ANALYSIS
OF
THE
GEPAROCTO
RANDOMIZED
CLINICAL
TRIAL
(POHL-RESCIGNO
ET
AL.
(2020)
JAMA
ONCOL.,
PUBLISHED
ONLINE
MARCH
12,
DOI:10.1001/JAMAONCOL.2020.0007.
[EPUB
AHEAD
OF
PRINT];
COPYRIGHT
2020,
AMERICAN
MEDICAL
ASSOCIATION)
.
33
CONTENT
9.1.1
OWN
CONTRIBUTIONS
34
9.2
THE
GPRC5A
FRAMESHIFT
VARIANT
C.183DEL
IS
NOT
ASSOCIATED
WITH
INCREASED
BREAST
CANCER
RISK
IN
BRCA1
MUTATION
CARRIERS
(KLASCHIK
ET
AL.
(2019)
INT
J
CANCER.,
APR
1
;144(7):1
761-1763,
HTTPS://DOI.ORG/10.1002/IJC.32016
;
COPYRIGHT
2018,
UICC;
PUBLISHER:
JOHN
WILEY
AND
SONS)
35
9.2.1
OWN
CONTRIBUTIONS
35
9.3
GENE
PANEL
TESTING
OF
5589
BRCA
7/2-NEGATIVE
INDEX
PATIENTS
WITH
BREAST
CANCER
IN
A
ROUTINE
DIAGNOSTIC
SETTING:
RESULTS
OF
THE
GERMAN
CONSORTIUM
FOR
HEREDITARY
BREAST
AND
OVARIAN
CANCER
(HAUKE
ET
AL,
(2018)
CANCER
MED.,
APR;7(4):
1349-1358,
HTTPS://DOI.ORG/10.1002/CAM4.1376
;
COPYRIGHT2018,
JOHN
WILEY
&
SONS
LTD.).
.36
9.3.1
OWN
CONTRIBUTIONS
36
9.4
DIAGNOSIS
OF
LI-FRAUMENI
SYNDROME:
DIFFERENTIATING
TP53
GERMLINE
MUTATIONS
FROM
CLONAL
HEMATOPOIESIS:
RESULTS
OF
THE
OBSERVATIONAL
AGO-TR1
TRIAL
(WEBER-LASSALLE
ET
AL.
(2018)
HUM
MUTAT.,
DEC;39(12):2040-2046,
HTTPS://DOI.ORG/10.1002/HUMU.23653
;
COPYRIGHT
2018
WILEY
PERIODICALS,
INC.;
PUBLISHER:
JOHN
WILEY
AND
SONS)
37
9.4.1
OWN
CONTRIBUTIONS
37
10
UNPUBLISHED
MAIN
INVESTIGATIONS
38
10.1
PRELIMINARY
RESULTS
OF
THE
PERSPECTIVE
CASE-CONTROL
STUDY:
IDENTIFICATION
OF
NEW
CANDIDATE
BREAST
CANCER
RISK
GENES
ALMOST
NOT
BELONGING
TO
THE
DNA
REPAIR
PATHWAY
WITH
EXCEPTION
OF
NTHL1
AND
CTBP1
38
10.1.1
OWN
CONTRIBUTIONS
41
10.1.2
CONTRIBUTIONS
OF
CO-AUTHORS
42
11
DISCUSSION
OF
MAIN
INVESTIGATIONS
44
11.1
BARD1
AND
BRIP1
ARE
INCORPORATED
AS
NOVEL
*
CORE
GENES
*
INTO
THE
TRURISK
GENE
PANEL
VERSION
3
OF
THE
GC-HBOC
44
11.2
THE
EXOME-WIDE
PERSPECTIVE
APPROACH:
IDENTIFICATION
OF
NEW
CANDIDATE
BREAST
CANCER
RISK
GENES
NOT
BELONGING
TO THE
DNA
REPAIR
PATHWAY
WITH
EXCEPTION
OF
NTHL1
AND
CTBP1
45
11.2.1
THE
BONFERRONI
CORRECTION
IS
APPLIED
TO
COUNTERACT
THE
PROBLEM
OF
MULTIPLE
COMPARISONS
45
11.2.2
DESCRIPTION
OF
NEW
CANDIDATE
RISK
GENES
FOR
BREAST
CANCER
46
CONTENT
11.2.2.1
MARCO
ENCODES
A
PROTEIN
THAT
PLAYS
A
ROLE
IN
THE
INNATE
ANTIMICROBIAL
IMMUNE
SYSTEM
47
11.2.2.2
PIK3CG
ENCODES
A
PROTEIN
INVOLVED
IN
THE
IMMUNE
RESPONSE
BY
REGULATING
THYMOCYTE
DEVELOPMENT,
T-CELL
ACTIVATION,
NEUTROPHIL
MIGRATION,
AND
THE
OXIDATIVE
BURST
47
11.2.2.3
RNF181
ENCODES
A
PROTEIN
THAT
BINDS
TO
THE
INTEGRIN
ALPHA-LIB
COMPLEX
AND
POSSESSES
AN
E3
UBIQUITIN
LIGASE
ACTIVITY
48
11.2.2.4
TMEM161A
ENCODES
A
PROTEIN
THAT
IS
INVOLVED
IN
PROTECTION
AGAINST
OXIDATIVE
STRESS
49
11.2.2.5
ZWINT
ENCODES
A
PROTEIN
THAT
PLAYS
A
ROLE
IN
KINETOCHORE
FUNCTION
49
11.2.2.6
BPTF
ENCODES
A
PROTEIN
THAT
IS
INVOLVED
IN
THE REGULATION
OF
TRANSCRIPTION
DURING
PROLIFERATION
49
11.2.2.7
C4ORF48,
ENCODING
A
CANDIDATE
NEUROPEPTIDE,
IS
EXPRESSED
DURING
NEOCORTEX
AND
CEREBELLAR
DEVELOPMENT
50
11.2.2.8
CTBP1
ENCODES
A
TRANSCRIPTIONAL
REGULATOR
INTERACTING
WITH
CHROMATIN
MODIFYING
ENZYMES
TO
MODULATE
GENE
EXPRESSION
IN
MULTIPLE
CELLULAR
PATHWAYS
50
11.2.2.9
FHL3
ENCODES
A
PROTEIN
THAT
MAY
BE
INVOLVED
IN
TUMOR
SUPPRESSION
BY
INTERACTING
WITH
THE
CANCER
DEVELOPMENTAL
REGULATORS
SMAD2,
SMAD3,
AND
SMAD4
51
11.2.2.10
NTHL
1
ENCODES
A
DNA
N-GLYCOSYLASE
OF
THE
ENDONUCLEASE
III
FAMILY
THAT
INITIATES
DNA
BASE
EXCISION
REPAIR
52
11.2.2.11SLC2A8
ENCODES
A
CYTOPLASMIC
GLUCOSE
TRANSPORTER
52
11.2.3
PATHOGENIC
VARIANTS
IN
NEW
CANDIDATE
RISK
GENES
FOR
BREAST
CANCER
CLUSTER
IN
FUNCTIONAL
DOMAINS
OF
THE
PROTEIN
53
12
CONCLUSION
55
13
OUTLOOK
55
14
REFERENCES
57
15
ACKNOWLEDGEMENTS
72
16
ERKLSRUNG |
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| id | DE-604.BV046933247 |
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| index_date | 2024-07-03T15:35:18Z |
| indexdate | 2024-07-10T08:57:53Z |
| institution | BVB |
| language | English |
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| spelling | Weber-Lassalle, Nana-Maureen Verfasser (DE-588)1212878639 aut Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches vorgelegt von Nana-Maureen Weber-Lassalle Köln Hundt Druck 2020 III, 75 Seiten Illustrationen txt rdacontent n rdamedia nc rdacarrier Dissertation Universität zu Köln 2020 Genanalyse (DE-588)4200230-8 gnd rswk-swf Eierstockkrebs (DE-588)4013746-6 gnd rswk-swf Prädisposition (DE-588)4225917-4 gnd rswk-swf Brustkrebs (DE-588)4008528-4 gnd rswk-swf (DE-588)4113937-9 Hochschulschrift gnd-content Brustkrebs (DE-588)4008528-4 s Eierstockkrebs (DE-588)4013746-6 s Prädisposition (DE-588)4225917-4 s Genanalyse (DE-588)4200230-8 s DE-604 B:DE-101 application/pdf https://d-nb.info/1217339507/04 Inhaltsverzeichnis DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032342134&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Weber-Lassalle, Nana-Maureen Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches Genanalyse (DE-588)4200230-8 gnd Eierstockkrebs (DE-588)4013746-6 gnd Prädisposition (DE-588)4225917-4 gnd Brustkrebs (DE-588)4008528-4 gnd |
| subject_GND | (DE-588)4200230-8 (DE-588)4013746-6 (DE-588)4225917-4 (DE-588)4008528-4 (DE-588)4113937-9 |
| title | Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches |
| title_auth | Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches |
| title_exact_search | Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches |
| title_exact_search_txtP | Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches |
| title_full | Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches vorgelegt von Nana-Maureen Weber-Lassalle |
| title_fullStr | Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches vorgelegt von Nana-Maureen Weber-Lassalle |
| title_full_unstemmed | Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches vorgelegt von Nana-Maureen Weber-Lassalle |
| title_short | Identification of novel breast and ovarian cancer susceptibility genes by hypothesis-driven and exome-wide approaches |
| title_sort | identification of novel breast and ovarian cancer susceptibility genes by hypothesis driven and exome wide approaches |
| topic | Genanalyse (DE-588)4200230-8 gnd Eierstockkrebs (DE-588)4013746-6 gnd Prädisposition (DE-588)4225917-4 gnd Brustkrebs (DE-588)4008528-4 gnd |
| topic_facet | Genanalyse Eierstockkrebs Prädisposition Brustkrebs Hochschulschrift |
| url | https://d-nb.info/1217339507/04 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032342134&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT weberlassallenanamaureen identificationofnovelbreastandovariancancersusceptibilitygenesbyhypothesisdrivenandexomewideapproaches |
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