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Buch ; Dissertation / Habilitation: Pathogenic germline aberrations in TP53 and BRCA1/2-negative breast cancer patients suggestive of Li-Fraumeni syndrome

Penkert, Judith Rebekka

2019

Verfasserangabe	vorgelegt von Judith Rebekka Penkert
Thema/Rubrik (Code)	610
Sprache	Englisch
Umfang	82 Blätter, Diagramme, 30 cm
Erscheinungsort	Hannover
Erscheinungsland	Deutschland
Dokumenttyp	Buch ; Dissertation / Habilitation
Dissertation / Habilitation	Dissertation, Medizinische Hochschule Hannover, 2020
Anmerkung	Enthält 1 Sonderabdruck
HBZ-ID	HT020836190
Datenquelle	Katalog ZB MED Medizin, Gesundheit

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Artikel ; Online: Research on Rare Diseases in Germany - The cancer predisposition syndrome registry.

Dutzmann, Christina M / Palmaers, Nathalie E / Müntnich, Lucas J / Strüwe, Farina J / Penkert, Judith / Sänger, Birte / Hoffmann, Beatrice / Karow, Anja / Reimer, Christina / Gerasimov, Tanja / Niewisch, Marena R / Kratz, Christian P

Journal of health monitoring

2023 Band 8, Heft 4, Seite(n) 17–23

Abstract: Background: Cancer predisposition syndromes (CPS) are rare diseases that are associated with an increased risk of cancer due to genetic alterations. At least 8 % of all cases of childhood cancer are attributable to CPS [1, 2]. The CPS registry was ... ...

Abstract	Background: Cancer predisposition syndromes (CPS) are rare diseases that are associated with an increased risk of cancer due to genetic alterations. At least 8 % of all cases of childhood cancer are attributable to CPS [1, 2]. The CPS registry was launched in 2017 to learn more about CPS and to improve the care to those afflicted by these diseases. Methods: This is an internationally networked registry with associated accompanying studies that investigate cancer risks and spectra, the possibilities of cancer prevention, early detection and therapy. Results: For several of these syndromes, new insights into the cancer risks and cancer types as well as factors modifying cancer risk have been gained. In addition, experimental, psycho-oncological, preclinical and clinical studies were initiated. Conclusions: The CPS registry is an example of how progress can be made within a short period of time to the benefit of individuals with rare diseases through systematic data collection and research.
Sprache	Englisch
Erscheinungsdatum	2023-12-13
Erscheinungsland	Germany
Dokumenttyp	Journal Article
ISSN	2511-2708
ISSN (online)	2511-2708
DOI	10.25646/11828
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: Forschung zu Seltenen Erkrankungen in Deutschland - Das Krebsprädispositionssyndrom-Register

Dutzmann, Christina M. / Palmaers, Nathalie E. / Müntnich, Lucas J. / Strüwe, Farina J. / Penkert, Judith / Sänger, Birte / Hoffmann, Beatrice / Karow, Anja / Reimer, Christina / Gerasimow, Tanja / Niewisch, Marena R. / Kratz, Christian P.

2023

Abstract: Hintergrund: Krebsprädispositionssyndrome (KPS) sind seltene Erkrankungen, die auf Grund von genetischen Veränderungen mit einem erhöhten Krebsrisiko einhergehen. Mindestens 8 % aller Krebserkrankungen im Kindesalter sind auf ein KPS zurückzuführen [1, 2] ...

Abstract	Hintergrund: Krebsprädispositionssyndrome (KPS) sind seltene Erkrankungen, die auf Grund von genetischen Veränderungen mit einem erhöhten Krebsrisiko einhergehen. Mindestens 8 % aller Krebserkrankungen im Kindesalter sind auf ein KPS zurückzuführen [1, 2]. 2017 wurde das KPS-Register eröffnet, um mehr über KPS zu lernen und um die Betreuung Betroffener zu verbessern. Methode: Es handelt sich um ein international vernetztes Register sowie daran angegliederte Begleitstudien, die die Krebsrisiken und -spektren, die Möglichkeiten der Krebsprävention und -früherkennung sowie der -therapie untersuchen. Ergebnisse: Für mehrere KPS wurden neue Erkenntnisse zu Krebsrisiken und Krebsarten sowie zu Faktoren, die das Krebsrisiko modifizieren, erworben. Zudem wurden experimentelle, psychoonkologische sowie präklinische und klinische Studien ins Leben gerufen. Schlussfolgerungen: Das KPS-Register ist ein Beispiel dafür, wie für Menschen mit Seltenen Erkrankungen innerhalb kurzer Zeit durch systematische Datensammlung und Forschung Fortschritte erzielt werden können.
Schlagwörter	Krebsprädisposition ; Prävention ; Früherkennung ; Li-Fraumeni-Syndrom ; Seltene Erkrankungen ; Kinder ; 610 Medizin und Gesundheit ; ddc:610
Sprache	Deutsch
Erscheinungsdatum	2023-12-13
Verlag	Robert Koch-Institut
Erscheinungsland	de
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: Research on Rare Diseases in Germany - Cancer Predisposition Syndrome Registry

Dutzmann, Christina M. / Palmaers, Nathalie E. / Müntnich, Lucas J. / Strüwe, Farina J. / Penkert, Judith / Sänger, Birte / Hoffmann, Beatrice / Karow, Anja / Reimer, Christina / Gerasimov, Tanja / Niewisch, Marena R. / Kratz, Christian P.

2023

Abstract	Background: Cancer predisposition syndromes (CPS) are rare diseases that are associated with an increased risk of cancer due to genetic alterations. At least 8 % of all cases of childhood cancer are attributable to CPS. The CPS registry was launched in 2017 to learn more about CPS and to improve the care to those afflicted by these diseases. Methods: This is an internationally networked registry with associated accompanying studies that investigate cancer risks and spectra, the possibilities of cancer prevention, early detection and therapy. Results: For several of these syndromes, new insights into the cancer risks and cancer types as well as factors modifying cancer risk have been gained. In addition, experimental, psycho-oncological, preclinical and clinical studies were initiated. Conclusions: The CPS registry is an example of how progress can be made within a short period of time to the benefit of individuals with rare diseases through systematic data collection and research.
Schlagwörter	Cancer Predisposition ; Prevention ; Surveillance ; Li-Fraumeni-Syndrome ; Rare Diseases ; Children ; 610 Medizin und Gesundheit ; ddc:610
Thema/Rubrik (Code)	610
Sprache	Englisch
Erscheinungsdatum	2023-12-13
Verlag	Robert Koch-Institut
Erscheinungsland	de
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: No evidence for breast cancer susceptibility associated with variants of BRD7, a component of p53 and BRCA1 pathways.

Penkert, Judith / Schlegelberger, Brigitte / Steinemann, Doris / Gadzicki, Dorothea

Familial cancer

2012 Band 11, Heft 4, Seite(n) 601–606

Abstract: BRD7 (bromodomain 7), a subunit of poly-bromo-associated BRG1-associated factor (PBAF)-specific Swi/Snf chromatin remodeling complexes, has been proposed as a tumour suppressor protein following its identification as an important component of both ... ...

Abstract	BRD7 (bromodomain 7), a subunit of poly-bromo-associated BRG1-associated factor (PBAF)-specific Swi/Snf chromatin remodeling complexes, has been proposed as a tumour suppressor protein following its identification as an important component of both functional p53 and BRCA1 (breast cancer 1, early onset) pathways. As low BRD7 expression levels have been linked to p53-wild-type breast tumour cells, we hypothesized an implication of BRD7 germline alterations in the pathogenesis of hereditary breast cancer similar to that of TP53 in Li-Fraumeni syndrome. We performed sequence analysis of the BRD7 gene on 61 high-risk individuals with hereditary or very-early-onset breast cancer and 100 healthy controls. Four potentially disease-causing single-nucleotide alterations were detected within the cohort of breast cancer patients (one listed as a rare single-nucleotide polymorphism (SNP) in the NCBI (National Center for Biotechnology Information) SNP database). Two of the detected variants were also each found once within the control collective. Segregation analysis on both families of those carrying the remaining two variants revealed segregation of these BRD7 alterations independent of breast cancer. In conclusion, it seems that the BRD7 variants we detected represent rare polymorphisms and mainly rule out BRD7 as a frequent high-penetrance breast cancer susceptibility gene. However, further analyses in larger cohorts of women with hereditary breast cancer should clarify the role of BRD7 in breast cancer predisposition.
Mesh-Begriff(e)	Adult ; Aged ; BRCA1 Protein/genetics ; Breast Neoplasms/genetics ; Case-Control Studies ; Chromosomal Proteins, Non-Histone/genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Prognosis ; Tumor Suppressor Protein p53/genetics ; Young Adult
Chemische Substanzen	BRCA1 Protein ; BRCA1 protein, human ; BRD7 protein, human ; Chromosomal Proteins, Non-Histone ; TP53 protein, human ; Tumor Suppressor Protein p53
Sprache	Englisch
Erscheinungsdatum	2012-08-03
Erscheinungsland	Netherlands
Dokumenttyp	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1502496-9
ISSN	1573-7292 ; 1389-9600
ISSN (online)	1573-7292
ISSN	1389-9600
DOI	10.1007/s10689-012-9556-0
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: On metabolic reprogramming and tumor biology: A comprehensive survey of metabolism in breast cancer.

Penkert, Judith / Ripperger, Tim / Schieck, Maximilian / Schlegelberger, Brigitte / Steinemann, Doris / Illig, Thomas

Oncotarget

2016 Band 7, Heft 41, Seite(n) 67626–67649

Abstract: Altered metabolism in tumor cells has been a focus of cancer research for as long as a century but has remained controversial and vague due to an inhomogeneous overall picture. Accumulating genomic, metabolomic, and lastly panomic data as well as ... ...

Abstract	Altered metabolism in tumor cells has been a focus of cancer research for as long as a century but has remained controversial and vague due to an inhomogeneous overall picture. Accumulating genomic, metabolomic, and lastly panomic data as well as bioenergetics studies of the past few years enable a more comprehensive, systems-biologic approach promoting deeper insight into tumor biology and challenging hitherto existing models of cancer bioenergetics. Presenting a compendium on breast cancer-specific metabolome analyses performed thus far, we review and compile currently known aspects of breast cancer biology into a comprehensive network, elucidating previously dissonant issues of cancer metabolism. As such, some of the aspects critically discussed in this review include the dynamic interplay or metabolic coupling between cancer (stem) cells and cancer-associated fibroblasts, the intratumoral and intertumoral heterogeneity and plasticity of cancer cell metabolism, the existence of distinct metabolic tumor compartments in need of separate yet simultaneous therapeutic targeting, the reliance of cancer cells on oxidative metabolism and mitochondrial power, and the role of pro-inflammatory, pro-tumorigenic stromal conditioning. Comprising complex breast cancer signaling networks as well as combined metabolomic and genomic data, we address metabolic consequences of mutations in tumor suppressor genes and evaluate their contribution to breast cancer predisposition in a germline setting, reasoning for distinct personalized preventive and therapeutic measures. The review closes with a discussion on central root mechanisms of tumor cell metabolism and rate-limiting steps thereof, introducing essential strategies for therapeutic targeting.
Sprache	Englisch
Erscheinungsdatum	2016-10-11
Erscheinungsland	United States
Dokumenttyp	Review ; Journal Article
ZDB-ID	2560162-3
ISSN	1949-2553 ; 1949-2553
ISSN (online)	1949-2553
ISSN	1949-2553
DOI	10.18632/oncotarget.11759
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel: Plasma Metabolome Signature Indicative of

Penkert, Judith / Märtens, Andre / Seifert, Martin / Auber, Bernd / Derlin, Katja / Hille-Betz, Ursula / Hörmann, Philipp / Klopp, Norman / Prokein, Jana / Schlicker, Lisa / Wacker, Frank / Wallaschek, Hannah / Schlegelberger, Brigitte / Hiller, Karsten / Ripperger, Tim / Illig, Thomas

Frontiers in oncology

2021 Band 11, Seite(n) 627217

Abstract: Individuals carrying a pathogenic germline variant in the breast cancer predisposition ... ...

Abstract	Individuals carrying a pathogenic germline variant in the breast cancer predisposition gene
Sprache	Englisch
Erscheinungsdatum	2021-04-07
Erscheinungsland	Switzerland
Dokumenttyp	Journal Article
ZDB-ID	2649216-7
ISSN	2234-943X
ISSN	2234-943X
DOI	10.3389/fonc.2021.627217
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome.

Hasselblatt, Martin / Thomas, Christian / Federico, Aniello / Nemes, Karolina / Johann, Pascal D / Bison, Brigitte / Bens, Susanne / Dahlum, Sonja / Kordes, Uwe / Redlich, Antje / Lessel, Lienhard / Pajtler, Kristian W / Mawrin, Christian / Schüller, Ulrich / Nolte, Kay / Kramm, Christof M / Hinz, Felix / Sahm, Felix / Giannini, Caterina /

Penkert, Judith / Kratz, Christian P / Pfister, Stefan M / Siebert, Reiner / Paulus, Werner / Kool, Marcel / Frühwald, Michael C

The American journal of surgical pathology

2022 Band 46, Heft 9, Seite(n) 1277–1283

Abstract: Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant central nervous system tumor predominantly affecting infants. Mutations of SMARCB1 or (rarely) SMARCA4 causing loss of nuclear SMARCB1 or SMARCA4 protein expression are characteristic features, but ... ...

Abstract	Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant central nervous system tumor predominantly affecting infants. Mutations of SMARCB1 or (rarely) SMARCA4 causing loss of nuclear SMARCB1 or SMARCA4 protein expression are characteristic features, but further recurrent genetic alterations are lacking. Most AT/RTs occur de novo, but secondary AT/RTs arising from other central nervous system tumors have been reported. Malignant gliomas, IDH wild-type, arising in patients with Li-Fraumeni syndrome typically show somatic mutations of TP53 as well as complex copy number alterations, but little is known about the loss of SMARCB1 or SMARCA4 protein expression in this context. Here, we report 2 children in whom malignant supratentorial brain tumors with SMARCB1 deficiency, complex copy number alterations, and somatic TP53 mutations lead to the discovery of pathogenic/likely pathogenic TP53 variants in the germline. Screening of the molecularneuropathology.org dataset for cases with similar genetic and epigenetic alterations yielded another case with SMARCA4 deficiency in a young adult with Li-Fraumeni syndrome. In conclusion, SMARCB1-deficient or SMARCA4-deficient malignant brain tumors with complex copy number alterations and somatic TP53 mutations in children and young adults may represent the first clinical manifestation of Li-Fraumeni syndrome and should prompt genetic counseling and investigation for TP53 germline status.
Mesh-Begriff(e)	Brain Neoplasms/complications ; Brain Neoplasms/genetics ; Child ; DNA Copy Number Variations ; DNA Helicases/genetics ; DNA Helicases/metabolism ; Humans ; Li-Fraumeni Syndrome/complications ; Li-Fraumeni Syndrome/genetics ; Mutation ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Rhabdoid Tumor/genetics ; Rhabdoid Tumor/pathology ; SMARCB1 Protein/genetics ; SMARCB1 Protein/metabolism ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Tumor Suppressor Protein p53/genetics
Chemische Substanzen	Nuclear Proteins ; SMARCB1 Protein ; SMARCB1 protein, human ; TP53 protein, human ; Transcription Factors ; Tumor Suppressor Protein p53 ; SMARCA4 protein, human (EC 3.6.1.-) ; DNA Helicases (EC 3.6.4.-)
Sprache	Englisch
Erscheinungsdatum	2022-04-22
Erscheinungsland	United States
Dokumenttyp	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	752964-8
ISSN	1532-0979 ; 0147-5185
ISSN (online)	1532-0979
ISSN	0147-5185
DOI	10.1097/PAS.0000000000001905
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Penkert, Judith / Schmidt, Gunnar / Hofmann, Winfried / Schubert, Stephanie / Schieck, Maximilian / Auber, Bernd / Ripperger, Tim / Hackmann, Karl / Sturm, Marc / Prokisch, Holger / Hille-Betz, Ursula / Mark, Dorothea / Illig, Thomas / Schlegelberger, Brigitte / Steinemann, Doris

Breast cancer research : BCR

2018 Band 20, Heft 1, Seite(n) 87

Abstract: Background: Breast cancer is the most prevalent tumor entity in Li-Fraumeni syndrome. Up to 80% of individuals with a Li-Fraumeni-like phenotype do not harbor detectable causative germline TP53 variants. Yet, no systematic panel analyses for a wide ... ...

Abstract	Background: Breast cancer is the most prevalent tumor entity in Li-Fraumeni syndrome. Up to 80% of individuals with a Li-Fraumeni-like phenotype do not harbor detectable causative germline TP53 variants. Yet, no systematic panel analyses for a wide range of cancer predisposition genes have been conducted on cohorts of women with breast cancer fulfilling Li-Fraumeni(-like) clinical diagnostic criteria. Methods: To specifically help explain the diagnostic gap of TP53 wild-type Li-Fraumeni(-like) breast cancer cases, we performed array-based CGH (comparative genomic hybridization) and panel-based sequencing of 94 cancer predisposition genes on 83 breast cancer patients suggestive of Li-Fraumeni syndrome who had previously had negative test results for causative BRCA1, BRCA2, and TP53 germline variants. Results: We identified 13 pathogenic or likely pathogenic germline variants in ten patients and in nine genes, including four copy number aberrations and nine single-nucleotide variants or small indels. Three patients presented as double-mutation carriers involving two different genes each. In five patients (5 of 83; 6% of cohort), we detected causative pathogenic variants in established hereditary breast cancer susceptibility genes (i.e., PALB2, CHEK2, ATM). Five further patients (5 of 83; 6% of cohort) were found to harbor pathogenic variants in genes lacking a firm association with breast cancer susceptibility to date (i.e., Fanconi pathway genes, RECQ family genes, CDKN2A/p14 Conclusions: Our study details the mutational spectrum in breast cancer patients suggestive of Li-Fraumeni syndrome and indicates the need for intensified research on monoallelic variants in Fanconi pathway and RECQ family genes. Notably, this study further reveals a large portion of still unexplained Li-Fraumeni(-like) cases, warranting comprehensive investigation of recently described candidate genes as well as noncoding regions of the TP53 gene in patients with Li-Fraumeni(-like) syndrome lacking TP53 variants in coding regions.
Mesh-Begriff(e)	Adult ; Breast Neoplasms/genetics ; Cohort Studies ; DNA Copy Number Variations ; DNA Mutational Analysis/methods ; Female ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Germ-Line Mutation/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Li-Fraumeni Syndrome/genetics ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Tumor Suppressor Protein p53/genetics ; Young Adult
Chemische Substanzen	TP53 protein, human ; Tumor Suppressor Protein p53
Sprache	Englisch
Erscheinungsdatum	2018-08-07
Erscheinungsland	England
Dokumenttyp	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2015059-3
ISSN	1465-542X ; 1465-5411
ISSN (online)	1465-542X
ISSN	1465-5411
DOI	10.1186/s13058-018-1011-1
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: Plasma Metabolome Signature Indicative of Germline Status Independent of Cancer Incidence.

11 ; 627217 ; Frontiers in oncology ; Switzerland

2021

Abstract: Individuals carrying a pathogenic germline variant in the breast cancer predisposition gene BRCA1 (gBRCA1+) are prone to developing breast cancer. Apart from its well-known role in DNA repair, BRCA1 has been shown to powerfully impact cellular metabolism. ...

Abstract	Individuals carrying a pathogenic germline variant in the breast cancer predisposition gene BRCA1 (gBRCA1+) are prone to developing breast cancer. Apart from its well-known role in DNA repair, BRCA1 has been shown to powerfully impact cellular metabolism. While, in general, metabolic reprogramming was named a hallmark of cancer, disrupted metabolism has also been suggested to drive cancer cell evolution and malignant transformation by critically altering microenvironmental tissue integrity. Systemic metabolic effects induced by germline variants in cancer predisposition genes have been demonstrated before. Whether or not systemic metabolic alterations exist in gBRCA1+ individuals independent of cancer incidence has not been investigated yet. We therefore profiled the plasma metabolome of 72 gBRCA1+ women and 72 age-matched female controls, none of whom (carriers and non-carriers) had a prior cancer diagnosis and all of whom were cancer-free during the follow-up period. We detected one single metabolite, pyruvate, and two metabolite ratios involving pyruvate, lactate, and a metabolite of yet unknown structure, significantly altered between the two cohorts. A machine learning signature of metabolite ratios was able to correctly distinguish between gBRCA1+ and controls in ~82%. The results of this study point to innate systemic metabolic differences in gBRCA1+ women independent of cancer incidence and raise the question as to whether or not constitutional alterations in energy metabolism may be involved in the etiology of BRCA1-associated breast cancer.
Schlagwörter	BRCA1 germline mutation ; HIF1 alpha ; NAD+ balance ; aerobic glycolysis ; breast cancer ; energy metabolism ; lactate ; plasma metabolome
Thema/Rubrik (Code)	610 ; 616
Sprache	Englisch
Erscheinungsdatum	2021-04-07
Verlag	Frontiers
Erscheinungsland	de
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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