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Article ; Online: Inferring a Cognitive Architecture from Multitask Neuroimaging Data: A Data-Driven Test of the Common Model of Cognition Using Granger Causality.

Hake, Holly Sue / Sibert, Catherine / Stocco, Andrea

2022 Volume 14, Issue 4, Page(s) 845–859

Abstract: Cognitive architectures (i.e., theorized blueprints on the structure of the mind) can be used to make predictions about the effect of multiregion brain activity on the systems level. Recent work has connected one high-level cognitive architecture, known ... ...

Abstract	Cognitive architectures (i.e., theorized blueprints on the structure of the mind) can be used to make predictions about the effect of multiregion brain activity on the systems level. Recent work has connected one high-level cognitive architecture, known as the "Common Model of Cognition," to task-based functional MRI data with great success. That approach, however, was limited in that it was intrinsically top-down, and could thus only be compared with alternate architectures that the experimenter could contrive. In this paper, we propose a bottom-up method to infer a cognitive architecture directly from brain imaging data itself, overcoming this limitation. Specifically, Granger causality modeling was applied to the same task-based fMRI data to infer a network of causal connections between brain regions based on their functional connectivity. The resulting network shares many connections with those proposed by the Common Model of Cognition but also suggests important additions likely related to the role of episodic memory. This combined top-down and bottom-up modeling approach can be used to help formalize the computational instantiation of cognitive architectures and further refine a comprehensive theory of cognition.
MeSH term(s)	Humans ; Neuroimaging ; Brain/diagnostic imaging ; Magnetic Resonance Imaging/methods ; Cognition ; Causality ; Nerve Net
Language	English
Publishing date	2022-09-21
Publishing country	United States
Document type	Journal Article ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2482883-X
ISSN	1756-8765 ; 1756-8757
ISSN (online)	1756-8765
ISSN	1756-8757
DOI	10.1111/tops.12623
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Article: The Structured Mind at Rest: Low-Frequency Oscillations Reflect Interactive Dynamics Between Spontaneous Brain Activity and a Common Architecture for Task Control.

Sibert, Catherine / Hake, Holly Sue / Stocco, Andrea

Frontiers in neuroscience

2022 Volume 16, Page(s) 832503

Abstract: The Common Model of Cognition (CMC) has been proposed as a high level framework through which functional neuroimaging data can be predicted and interpreted. Previous work has found the CMC is capable of predicting brain activity across a variety of tasks, ...

Abstract	The Common Model of Cognition (CMC) has been proposed as a high level framework through which functional neuroimaging data can be predicted and interpreted. Previous work has found the CMC is capable of predicting brain activity across a variety of tasks, but it has not been tested on resting state data. This paper adapts a previously used method for comparing theoretical models of brain structure, Dynamic Causal Modeling, for the task-free environment of resting state, and compares the CMC against six alternate architectural frameworks while also separately modeling spontaneous low-frequency oscillations. For a large sample of subjects from the Human Connectome Project, the CMC provides the best account of resting state brain activity, suggesting the presence of a general purpose structure of connections in the brain that drives activity when at rest and when performing directed task behavior. At the same time, spontaneous brain activity was found to be present and significant across all frequencies and in all regions. Together, these results suggest that, at rest, spontaneous low-frequency oscillations interact with the general cognitive architecture for task-based activity. The possible functional implications of these findings are discussed.
Language	English
Publishing date	2022-07-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2411902-7
ISSN	1662-453X ; 1662-4548
ISSN (online)	1662-453X
ISSN	1662-4548
DOI	10.3389/fnins.2022.832503
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Article: Cutaneous manifestations of tuberous sclerosis.

Hake, Sue

The Ochsner journal

2011 Volume 10, Issue 3, Page(s) 200–204

Abstract: Purpose: To describe a case of periungual masses probably related to tuberous sclerosis and to review the literature regarding tuberous sclerosis, including the historical, clinical, and diagnostic aspects. Also discussed is the long-term follow-up of ... ...

Abstract	Purpose: To describe a case of periungual masses probably related to tuberous sclerosis and to review the literature regarding tuberous sclerosis, including the historical, clinical, and diagnostic aspects. Also discussed is the long-term follow-up of the disease. Methods: Report of a case of periungual masses secondary to tuberous sclerosis and review of the literature from 1999 to 2009, with the use of MEDLINE (National Library of Medicine). Results: I describe a case of periungual masses occurring as a result of tuberous sclerosis. A literature review confirms periungual masses associated with tuberous sclerosis in most cases. Also, the observance of cutaneous manifestations is most helpful in the diagnosis of this disorder. Conclusion: Tuberous sclerosis is an uncommon disorder, which has a variable clinical presentation. Tuberous sclerosis is associated with seizures and mental retardation. In the absence of these 2 signs/symptoms, physicians should still consider the diagnosis when presented with varied dermatologic conditions.
Language	English
Publishing date	2011-04-25
Publishing country	United States
Document type	Journal Article
ISSN	1524-5012
ISSN	1524-5012
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Article ; Online: Multi-element Exposure and Cognitive Function in Rural Elderly Chinese.

Duan, Lidan / Su, Liqin / He, Xiaohong / Du, Yegang / Duan, Yanying / Xu, Ning / Wu, Rangpeng / Zhu, Yunfeng / Shao, Ranqi / Unverzagt, Frederick W / Hake, Ann M / Jin, Yinlong / Gao, Sujuan

Biological trace element research

2023 Volume 202, Issue 4, Page(s) 1401–1410

Abstract: To investigate the relationship between selenium (Se) based multi-element combined exposure and cognitive function in rural elderly individuals, a cross-sectional study was conducted. The study involved 416 older adults aged 60 and above, residing in ... ...

Abstract	To investigate the relationship between selenium (Se) based multi-element combined exposure and cognitive function in rural elderly individuals, a cross-sectional study was conducted. The study involved 416 older adults aged 60 and above, residing in four different areas of Enshi county, China, with varying soil Se levels. Inductively coupled plasma mass spectrometry (ICP-MS) was employed to measure the concentrations of Se, copper (Cu), iron (Fe), zinc (Zn), calcium (Ca), magnesium (Mg), cadmium (Cd), arsenic (As), and lead (Pb) in whole blood. Nine standard cognitive tests were applied to assess cognitive function. Analysis of the least absolute shrinkage and selection operator regression (LASSO), covariance (ANCOVA), and generalized linear model (GLM) were utilized to investigate the relationship between element exposure and cognitive function. The results of LASSO revealed that Se, Cu, Fe, Zn, Ca, and Pb were independently identified to be associated with cognition. Both ANCOVA and GLM demonstrated that Se and Ca were correlated with cognitive function. The multi-element model showed higher composite Z scores of 0.32 (95% CI: 0.09 to 0.55) for log-transformed Se (P = 0.007), 0.75 (95% CI: 0.01 to 1.49) for log-transformed Cu (P = 0.048), and a lower score of - 0.67 (95% CI: - 1.26 to - 0.08) for log-transformed Ca (P = 0.025). Furthermore, there was evidence that Se could counteract the negative impact of Ca on cognitive function (P for interaction = 0.031). Our findings suggested that higher levels of Se and Cu were associated with better cognitive function in the elderly and Se can counteract the cognitive damage caused by Ca.
MeSH term(s)	Humans ; Aged ; Cross-Sectional Studies ; Lead ; Zinc ; Copper ; Selenium ; Cognition ; Trace Elements
Chemical Substances	Lead (2P299V784P) ; Zinc (J41CSQ7QDS) ; Copper (789U1901C5) ; Selenium (H6241UJ22B) ; Trace Elements
Language	English
Publishing date	2023-09-16
Publishing country	United States
Document type	Journal Article
ZDB-ID	445336-0
ISSN	1559-0720 ; 0163-4984
ISSN (online)	1559-0720
ISSN	0163-4984
DOI	10.1007/s12011-023-03774-1
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Article ; Online: Higher blood selenium level is associated with lower risk of hyperhomocysteinemia in the elderly.

Wang, Ting / Su, Liqin / Chen, Xi / Wang, Sisi / Han, Xu / Cheng, Yibin / Lin, Shaobin / Ding, Liang / Liu, Jingyi / Chen, Chen / Unverzagt, Frederick W / Hake, Ann M / Jin, Yinlong / Gao, Sujuan

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)

2022 Volume 75, Page(s) 127078

Abstract: Background and aims: Earlier studies have reported inconsistent association between selenium (Se) and homocysteine (Hcy) levels, while no evidence could be found from Chinese population. To fill this gap, we investigated the association between blood Se ...

Abstract	Background and aims: Earlier studies have reported inconsistent association between selenium (Se) and homocysteine (Hcy) levels, while no evidence could be found from Chinese population. To fill this gap, we investigated the association between blood Se and hyperhomocysteinemia (HHcy) of rural elderly population in China. Methods: A cross-sectional study on 1823 participants aged 65 and older from four Chinese rural counties was carried out in this study. Whole blood Se and serum Hcy concentrations were measured in fasting blood samples. Analysis of covariance and restricted cubic spline models were used to examine the association between Se and Hcy levels. Logistic regression models were used to evaluate the risk of prevalent HHcy among four Se quartile groups after adjusting for covariates. Results: For this sample, the mean blood Se concentration was 156.34 (74.65) μg/L and the mean serum Hcy concentration was 17.25 (8.42) μmol/L. A significant non-linear relationship was found between blood Se and serum Hcy, the association was inverse when blood Se was less than 97.404 μg/L and greater than 156.919 μg/L. Participants in the top three blood Se quartile groups had significantly lower risk of prevalent HHcy compared with the lowest quartile group. When defined as Hcy> 10 μmol/L, the odds ratios and 95% confidence interval of HHcy were 0.600 (0.390, 0.924), 0.616 (0.398, 0.951) and 0.479 (0.314, 0.732) for Q2, Q3, and Q4 Se quartile groups compared with the Q1 group, respectively. When defined as Hcy≥ 15 μmol/L, the odds ratios and 95% confidence interval of HHcy were 0.833 (0.633, 1.098) and 0.827 (0.626, 1.092), 0.647 (0.489, 0.857) for Q2, Q3, and Q4 Se quartile groups compared with Q1 group. Conclusions: Our findings suggest that higher blood Se level could be a protective factor for HHcy in the elderly.
MeSH term(s)	Aged ; Humans ; Selenium ; Cross-Sectional Studies ; China/epidemiology ; Social Group
Chemical Substances	Selenium (H6241UJ22B)
Language	English
Publishing date	2022-09-29
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1236267-0
ISSN	1878-3252 ; 1611-602X ; 0946-672X
ISSN (online)	1878-3252 ; 1611-602X
ISSN	0946-672X
DOI	10.1016/j.jtemb.2022.127078
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Article ; Online: Blood Selenium and Serum Glutathione Peroxidase Levels Were Associated with Serum β-Amyloid in Older Adults.

Luo, Jiao / Su, Liqin / He, Xiaohong / Du, Yegang / Xu, Ning / Wu, Rangpeng / Zhu, Yunfeng / Wang, Ting / Shao, Ranqi / Unverzagt, Frederick W / Hake, Ann M / Jin, Yinlong / Gao, Sujuan

Biological trace element research

2022 Volume 201, Issue 8, Page(s) 3679–3687

Abstract: Background: Studies have established the association between blood β-amyloid (Aβ) levels and Alzheimer's disease, but population-based studies concerning the association between selenium (Se) and Aβ levels in blood samples are very limited. Therefore, ... ...

Abstract	Background: Studies have established the association between blood β-amyloid (Aβ) levels and Alzheimer's disease, but population-based studies concerning the association between selenium (Se) and Aβ levels in blood samples are very limited. Therefore, we explored the association in an elderly population with Se status and serum Aβ measures. Methods: A cross-sectional study on 469 elderly individuals from four rural counties with diverse soil Se levels was carried out. Fasting blood Se, serum selenoprotein P (SELENOP), and glutathione peroxidase (GPX), serum Aβ42, and Aβ40 were measured. Quantile regression models were used to determine the associations of blood Se, serum GPX, and SELENOP with Aβ levels. Results: Significant negative associations were observed between blood Se and serum Aβ42 and Aβ40 levels at all percentiles (P < 0.05). The associations were generally stronger at higher Aβ42 and Aβ40 percentiles than lower Aβ42 and Aβ40 percentiles. Blood Se was positively associated with serum Aβ42/Aβ40 ratio at 25th, 50th, and 75th percentiles. Significant positive associations were observed between serum GPX and Aβ42 and Aβ40 levels at all percentiles (P < 0.05). The positive associations were generally stronger at higher Aβ42 and Aβ40 percentiles than at lower percentiles. Serum GPX was negatively associated with Aβ42/Aβ40 ratio at 25th, 50th, 75th, and 95th percentiles. No associations with serum SELENOP and Aβ levels were observed. Conclusions: Our results suggest that higher Se levels are associated with lower serum Aβ42 and Aβ40 levels and with higher Aβ42/Aβ40 ratio, and the results are specific for different selenoproteins.
MeSH term(s)	Humans ; Aged ; Amyloid beta-Peptides ; Selenium ; Glutathione Peroxidase ; Cross-Sectional Studies ; Alzheimer Disease ; Peptide Fragments
Chemical Substances	Amyloid beta-Peptides ; Selenium (H6241UJ22B) ; Glutathione Peroxidase (EC 1.11.1.9) ; Peptide Fragments
Language	English
Publishing date	2022-11-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	445336-0
ISSN	1559-0720 ; 0163-4984
ISSN (online)	1559-0720
ISSN	0163-4984
DOI	10.1007/s12011-022-03480-4
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Article ; Online: Higher blood cadmium level is associated with greater cognitive decline in rural Chinese adults aged 65 or older.

Liu, Hang / Su, Liqin / Chen, Xi / Wang, Sisi / Cheng, Yibin / Lin, Shaobin / Ding, Liang / Liu, Jingyi / Chen, Chen / Unverzagt, Frederick W / Hake, Ann M / Jin, Yinlong / Gao, Sujuan

The Science of the total environment

2020 Volume 756, Page(s) 144072

Abstract: Cadmium (Cd) exposure has been reported to have neurotoxic effects in animal studies and associated with increased Alzheimer's Disease mortality and lower cognitive function in cross-sectional and case-control studies. However, no results from ... ...

Abstract	Cadmium (Cd) exposure has been reported to have neurotoxic effects in animal studies and associated with increased Alzheimer's Disease mortality and lower cognitive function in cross-sectional and case-control studies. However, no results from longitudinal studies on Cd and cognitive decline are available. In this prospective cohort study, we recruited 1867 participants aged 65 years or older from rural areas in China, blood Cd and cognitive function were measured at baseline (2010-2012), and 1554 participants completed cognitive function tests during a 3-year follow-up (2013-2015). Cognitive function was evaluated using nine standardized cognitive tests: The Community Screening Instrument for Dementia, the CERAD Word List Learning, Word list recall, IU Story Recall, Animal Fluency Test, Boston Naming Test, Stick Design, Delayed Stick Design and the IU Token Test. Analysis of covariance models and logistic regression models were used to determine the association between Cd and standardized cognitive decline adjusting for covariates. The median blood Cd concentration of this study population was 2.12 μg/L, and the interquartile range was 1.42-4.64 μg/L. Significant association of higher Cd levels with lower cognitive scores were observed in five individual cognitive tests (Delayed Stick Design Test, Boston Naming Test, CERAD Word List Learning Test, Word List Recall Test and IU Story Recall Test) and the composite cognitive score adjusting for multi-covariates at baseline. Higher Cd levels were significantly associated with greater 3-year cognitive decline in Delayed Stick Design Test, Boston Naming Test, IU Token Test, Word List Recall Test and Composite cognitive score. For these cognitive tests, participants in the top two Cd quartile groups had significantly greater decline than those in the lowest Cd quartile group, while the two lowest Cd quartile groups were not significantly different. Our findings suggest that higher Cd exposure is associated with greater cognitive decline in older Chinese adults.
MeSH term(s)	Adult ; Aged ; Asians ; Cadmium ; China/epidemiology ; Cognitive Dysfunction/chemically induced ; Cognitive Dysfunction/epidemiology ; Cross-Sectional Studies ; Humans ; Middle Aged ; Neuropsychological Tests ; Prospective Studies
Chemical Substances	Cadmium (00BH33GNGH)
Language	English
Publishing date	2020-11-26
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	121506-1
ISSN	1879-1026 ; 0048-9697
ISSN (online)	1879-1026
ISSN	0048-9697
DOI	10.1016/j.scitotenv.2020.144072
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Article: Absence of poly(ADP-ribose)polymerase-1 alters nuclear factor-kappa B activation and gene expression of apoptosis regulators after reperfusion injury.

Zingarelli, Basilia / Hake, Paul W / O'Connor, Michael / Denenberg, Alvin / Kong, Sue / Aronow, Bruce J

Molecular medicine (Cambridge, Mass.)

2003 Volume 9, Issue 5-8, Page(s) 143–153

Abstract: Poly(ADP-ribose) polymerase-1 (PARP-1) is activated in response to DNA injury in eukaryotic cells and has been implicated in cell dysfunction in reperfusion injury. In this study we investigated the role of PARP-1 on apoptosis in early myocardial ... ...

Abstract	Poly(ADP-ribose) polymerase-1 (PARP-1) is activated in response to DNA injury in eukaryotic cells and has been implicated in cell dysfunction in reperfusion injury. In this study we investigated the role of PARP-1 on apoptosis in early myocardial reperfusion injury. Mice genetically deficient of PARP-1 (PARP-1-/-) and wild-type littermates were subjected to myocardial ischemia and reperfusion. Myocardial injury was assessed by measuring the serum levels of creatine phosphokinase and oligonucleosomal DNA fragments in the infarcted area. Expression of the anti-apoptotic protein, Bcl-2, and the pro-apoptotic protein, Bax, was analyzed by Western blot. Activation of caspases, important executioners of apoptosis, and activation of the nuclear factor kappa B (NF-kappa B) pathway were evaluated. Gene expression profiles for apoptotic regulators between PARP-1-/- and wild-type mice also were compared. Myocardial damage in PARP-1-/- mice was reduced significantly, as indicated by lower serum creatine phosphokinase levels and reduction of apoptosis, as compared with wild-type mice. Western blot analyses showed increased expression of Bcl-2, which was associated with reduction of caspase-1 and caspase-3 activation. This cardioprotection was associated with significant reduction of the activation of I kappa B kinase complex and NF-kappa B DNA binding. Microarray analysis demonstrated that the expression of 29 known genes of apoptotic regulators was significantly altered in PARP-1-/- mice compared with wild-type mice, whereas 6 known genes were similarly expressed in both genotypes. The data indicate that during reperfusion absence of PARP-1 leads to reduction of myocardial apoptosis, which is associated with reduced NF-kappa B activation and altered gene expression profiles.
MeSH term(s)	Animals ; Apoptosis/genetics ; Apoptosis/physiology ; Caspase 1/metabolism ; Caspase 3 ; Caspases/metabolism ; I-kappa B Kinase ; I-kappa B Proteins/metabolism ; Mice ; Myocardial Ischemia/metabolism ; Myocardial Reperfusion ; Myocardial Reperfusion Injury/metabolism ; Myocardium/metabolism ; NF-KappaB Inhibitor alpha ; NF-kappa B/metabolism ; Poly(ADP-ribose) Polymerases/deficiency ; Poly(ADP-ribose) Polymerases/genetics ; Poly(ADP-ribose) Polymerases/metabolism ; Protein Serine-Threonine Kinases/metabolism ; Proto-Oncogene Proteins c-bcl-2/metabolism
Chemical Substances	I-kappa B Proteins ; NF-kappa B ; Nfkbia protein, mouse ; Proto-Oncogene Proteins c-bcl-2 ; NF-KappaB Inhibitor alpha (139874-52-5) ; Poly(ADP-ribose) Polymerases (EC 2.4.2.30) ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; Chuk protein, mouse (EC 2.7.11.10) ; I-kappa B Kinase (EC 2.7.11.10) ; Ikbkb protein, mouse (EC 2.7.11.10) ; Ikbke protein, mouse (EC 2.7.11.10) ; Casp3 protein, mouse (EC 3.4.22.-) ; Caspase 3 (EC 3.4.22.-) ; Caspases (EC 3.4.22.-) ; Caspase 1 (EC 3.4.22.36)
Language	English
Publishing date	2003-10-20
Publishing country	England
Document type	Journal Article ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	1283676-x
ISSN	1076-1551
ISSN	1076-1551
DOI	10.2119/2003-00011.zingarelli
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Article: Differential regulation of activator protein-1 and heat shock factor-1 in myocardial ischemia and reperfusion injury: role of poly(ADP-ribose) polymerase-1.

Zingarelli, Basilia / Hake, Paul W / O'Connor, Michael / Denenberg, Alvin / Wong, Hector R / Kong, Sue / Aronow, Bruce J

American journal of physiology. Heart and circulatory physiology

2003 Volume 286, Issue 4, Page(s) H1408–15

Abstract: Poly(ADP-ribose) polymerase-1 (PARP-1), a nuclear enzyme activated in response to DNA strand breaks, has been implicated in cell dysfunction in myocardial reperfusion injury. PARP-1 has also been shown to participate in transcription and regulation of ... ...

Abstract	Poly(ADP-ribose) polymerase-1 (PARP-1), a nuclear enzyme activated in response to DNA strand breaks, has been implicated in cell dysfunction in myocardial reperfusion injury. PARP-1 has also been shown to participate in transcription and regulation of gene expression. In this study, we investigated the role of PARP-1 on the signal transduction pathway of activator protein-1 (AP-1) and heat shock factor-1 (HSF-1) in myocardial reperfusion injury. Mice genetically deficient of PARP-1 (PARP-1(-/-) mice) exhibited a significant reduction of myocardial damage after occlusion and reperfusion of the left anterior descending branch of the coronary artery compared with their wild-type littermates. This cardioprotection was associated with a reduction of the phosphorylative activity of JNK and, subsequently, reduction of the DNA binding of the signal transduction factor AP-1. On the contrary, in PARP-1(-/-) mice, DNA binding of HSF-1 was enhanced and was associated with a significant increase of the cardioprotective heat shock protein (HSP)70 compared with wild-type mice. Microarray analysis revealed that expression of several AP-1-dependent genes of proinflammatory mediators and HSPs was altered in PARP-1(-/-) mice. The data indicate that PARP-1 may exert a pathological role in reperfusion injury by functioning as an enhancing factor of AP-1 activation and as a repressing factor of HSF-1 activation and HSP70 expression.
MeSH term(s)	Animals ; Blotting, Western ; DNA, Complementary/biosynthesis ; DNA, Complementary/genetics ; DNA-Binding Proteins/biosynthesis ; Electrophoretic Mobility Shift Assay ; HSP70 Heat-Shock Proteins/metabolism ; Heat Shock Transcription Factors ; JNK Mitogen-Activated Protein Kinases ; MAP Kinase Kinase 4 ; Mice ; Mice, Knockout ; Mitogen-Activated Protein Kinase Kinases/metabolism ; Myocardial Reperfusion Injury/metabolism ; Myocardial Reperfusion Injury/pathology ; Myocardium/pathology ; Nuclear Proteins/chemistry ; Oligonucleotide Array Sequence Analysis ; Poly(ADP-ribose) Polymerases/physiology ; Repressor Proteins/genetics ; Signal Transduction/physiology ; Subcellular Fractions/metabolism ; Transcription Factor AP-1/biosynthesis ; Transcription Factor AP-1/genetics ; Transcription Factors
Chemical Substances	DNA, Complementary ; DNA-Binding Proteins ; HSP70 Heat-Shock Proteins ; Heat Shock Transcription Factors ; Nuclear Proteins ; Repressor Proteins ; Transcription Factor AP-1 ; Transcription Factors ; Poly(ADP-ribose) Polymerases (EC 2.4.2.30) ; JNK Mitogen-Activated Protein Kinases (EC 2.7.11.24) ; MAP Kinase Kinase 4 (EC 2.7.12.2) ; Mitogen-Activated Protein Kinase Kinases (EC 2.7.12.2)
Language	English
Publishing date	2003-12-11
Publishing country	United States
Document type	Journal Article ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	603838-4
ISSN	1522-1539 ; 0363-6135
ISSN (online)	1522-1539
ISSN	0363-6135
DOI	10.1152/ajpheart.00953.2003
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Article ; Online: The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.

Lakeman, Inge M M / van den Broek, Alexandra J / Vos, Juliën A M / Barnes, Daniel R / Adlard, Julian / Andrulis, Irene L / Arason, Adalgeir / Arnold, Norbert / Arun, Banu K / Balmaña, Judith / Barrowdale, Daniel / Benitez, Javier / Borg, Ake / Caldés, Trinidad / Caligo, Maria A / Chung, Wendy K / Claes, Kathleen B M / Collée, J Margriet / Couch, Fergus J /

Daly, Mary B / Dennis, Joe / Dhawan, Mallika / Domchek, Susan M / Eeles, Ros / Engel, Christoph / Evans, D Gareth / Feliubadaló, Lidia / Foretova, Lenka / Friedman, Eitan / Frost, Debra / Ganz, Patricia A / Garber, Judy / Gayther, Simon A / Gerdes, Anne-Marie / Godwin, Andrew K / Goldgar, David E / Hahnen, Eric / Hake, Christopher R / Hamann, Ute / Hogervorst, Frans B L / Hooning, Maartje J / Hopper, John L / Hulick, Peter J / Imyanitov, Evgeny N / Isaacs, Claudine / Izatt, Louise / Jakubowska, Anna / James, Paul A / Janavicius, Ramunas / Jensen, Uffe Birk / Jiao, Yue / John, Esther M / Joseph, Vijai / Karlan, Beth Y / Kets, Carolien M / Konstantopoulou, Irene / Kwong, Ava / Legrand, Clémentine / Leslie, Goska / Lesueur, Fabienne / Loud, Jennifer T / Lubiński, Jan / Manoukian, Siranoush / McGuffog, Lesley / Miller, Austin / Gomes, Denise Molina / Montagna, Marco / Mouret-Fourme, Emmanuelle / Nathanson, Katherine L / Neuhausen, Susan L / Nevanlinna, Heli / Yie, Joanne Ngeow Yuen / Olah, Edith / Olopade, Olufunmilayo I / Park, Sue K / Parsons, Michael T / Peterlongo, Paolo / Piedmonte, Marion / Radice, Paolo / Rantala, Johanna / Rennert, Gad / Risch, Harvey A / Schmutzler, Rita K / Sharma, Priyanka / Simard, Jacques / Singer, Christian F / Stadler, Zsofia / Stoppa-Lyonnet, Dominique / Sutter, Christian / Tan, Yen Yen / Teixeira, Manuel R / Teo, Soo Hwang / Teulé, Alex / Thomassen, Mads / Thull, Darcy L / Tischkowitz, Marc / Toland, Amanda E / Tung, Nadine / van Rensburg, Elizabeth J / Vega, Ana / Wappenschmidt, Barbara / Devilee, Peter / van Asperen, Christi J / Bernstein, Jonine L / Offit, Kenneth / Easton, Douglas F / Rookus, Matti A / Chenevix-Trench, Georgia / Antoniou, Antonis C / Robson, Mark / Schmidt, Marjanka K

Genetics in medicine : official journal of the American College of Medical Genetics

2021 Volume 23, Issue 9, Page(s) 1726–1737

Abstract: Purpose: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS: Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 ... ...

Abstract	Purpose: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS Results: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS Conclusion: The PRS
MeSH term(s)	Adult ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast Neoplasms/diagnosis ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Female ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Mutation ; Retrospective Studies ; Risk Factors
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein ; BRCA2 protein, human
Language	English
Publishing date	2021-06-10
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-021-01198-7
Database	MEDical Literature Analysis and Retrieval System OnLINE

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