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  1. Article ; Online: Corrigendum to "Sex differences on multikinase inhibitors toxicity in patients with advanced gastroenteropancreatic neuroendocrine tumours" [Eur J Cancer 188 (2023) 39-48].

    Hernando, Jorge / Roca-Herrera, Maria / García-Álvarez, Alejandro / Raymond, Eric / Ruszniewski, Philippe / Kulke, Matthew H / Grande, Enrique / Carbonero, Rocío García / Castellano, Daniel / Salazar, Ramón / Ibrahim, Toni / Teule, Alex / Alonso, Vicente / Fazio, Nicola / Valle, Juan W / Tafuto, Salvatore / Carmona, Ana / Navarro, Victor / Capdevila, Jaume

    European journal of cancer (Oxford, England : 1990)

    2024  Volume 203, Page(s) 114061

    Language English
    Publishing date 2024-04-12
    Publishing country England
    Document type Published Erratum
    ZDB-ID 82061-1
    ISSN 1879-0852 ; 0277-5379 ; 0959-8049 ; 0964-1947
    ISSN (online) 1879-0852
    ISSN 0277-5379 ; 0959-8049 ; 0964-1947
    DOI 10.1016/j.ejca.2024.114061
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  2. Article: Is long-term follow-up solely by imaging tests safe in non-operated pancreatic neuroendocrine tumors?

    Polette, Daniela / Busquets, Juli / Secanella Medayo, Lluis / Sorribas Grifell, Maria / Peláez Serra, Núria / Uribe, Catalina / Martinez-Carnicero, Laura / Salord Vila, Silvia / Guerrero, Fernando / Vercher-Conejero, Jose Luis / Teulé, Alex / Fabregat, Joan

    Revista espanola de enfermedades digestivas

    2023  Volume 116, Issue 4, Page(s) 209–215

    Abstract: Introduction: the diagnosis of asymptomatic sporadic nonfunctioning pancreatic neuroendocrine tumors (NF-PNETs) has increased significantly due to the widespread use of high-resolution imaging tests, which is why the most appropriate management at the ... ...

    Abstract Introduction: the diagnosis of asymptomatic sporadic nonfunctioning pancreatic neuroendocrine tumors (NF-PNETs) has increased significantly due to the widespread use of high-resolution imaging tests, which is why the most appropriate management at the time of diagnosis is the subject of debate, as is how to follow-up patients.
    Aims: the objective of this study was to analyze the frequency of imaging and endoscopic studies performed during long-term follow-up.
    Methods: a retrospective review was performed of a database collected between January 2008 and December 2020 of patients with an incidental diagnosis of small NF-PNETs; follow-up was closed in March 2023. The imaging tests performed at the time of diagnosis and long-term follow-up were recorded. Growing less than 1 mm per year has not been considered as a worrisome feature. Follow-up was performed through imaging tests, considering endoscopic cytology for lesions with a faster grow rate.
    Results: fifty-eight patients were included; the median age was 69 years. The initial mean size of the lesions studied was 12.79 mm (5-27). Follow-up was carried out only with computed tomography (CT) or magnetic resonance imaging (MRI). The initial size did not influence the behavior of the lesion in a statistically significant manner. Twenty-eight tumors (45 %) increased in size, with a growth equal to or less than 4 mm in 24 cases. The mean follow-up time was 82.41 months (12-164). No patient developed metastasis or died from PNET progression.
    Conclusions: the follow-up of neuroendocrine tumors of small size can be performed safely with only imaging tests.
    MeSH term(s) Humans ; Aged ; Follow-Up Studies ; Neuroendocrine Tumors/surgery ; Pancreatic Neoplasms/pathology ; Retrospective Studies ; Neuroectodermal Tumors, Primitive
    Language English
    Publishing date 2023-11-27
    Publishing country Spain
    Document type Journal Article
    ZDB-ID 1070381-0
    ISSN 1130-0108 ; 0212-7512
    ISSN 1130-0108 ; 0212-7512
    DOI 10.17235/reed.2023.9293/2022
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  3. Article ; Online: Cancer Risks Associated With

    Fortuno, Cristina / Feng, Bing-Jian / Carroll, Courtney / Innella, Giovanni / Kohlmann, Wendy / Lázaro, Conxi / Brunet, Joan / Feliubadaló, Lidia / Iglesias, Silvia / Menéndez, Mireia / Teulé, Alex / Ballinger, Mandy L / Thomas, David M / Campbell, Ainsley / Field, Mike / Harris, Marion / Kirk, Judy / Pachter, Nicholas / Poplawski, Nicola /
    Susman, Rachel / Tucker, Kathy / Wallis, Mathew / Williams, Rachel / Cops, Elisa / Goldgar, David / James, Paul A / Spurdle, Amanda B

    JCO precision oncology

    2024  Volume 8, Page(s) e2300453

    Abstract: Purpose: Establishing accurate age-related penetrance figures for the broad range of cancer types that occur in individuals harboring a pathogenic germline variant in the : Materials and methods: We performed a maximum likelihood penetrance ... ...

    Abstract Purpose: Establishing accurate age-related penetrance figures for the broad range of cancer types that occur in individuals harboring a pathogenic germline variant in the
    Materials and methods: We performed a maximum likelihood penetrance estimation using full pedigree data from a multicenter study of 146
    Results: Core Li-Fraumeni syndrome (LFS) cancers (breast cancer, adrenocortical carcinoma, brain cancer, osteosarcoma, and soft tissue sarcoma) had the highest hazard ratios of all cancers analyzed in this study. The analysis also detected a significantly increased lifetime risk for a range of cancers not previously formally associated with
    Conclusion: The results from maximum likelihood analysis confirm the known high lifetime risk for the core LFS-associated cancer types providing new risk estimates and indicate significantly increased lifetime risks for several additional cancer types. Accurate cancer risk estimates will help refine clinical recommendations for
    MeSH term(s) Male ; Female ; Humans ; United States ; Middle Aged ; Li-Fraumeni Syndrome/diagnosis ; Li-Fraumeni Syndrome/genetics ; Genes, p53/genetics ; Pedigree ; Tumor Suppressor Protein p53/genetics ; Genetic Predisposition to Disease/genetics ; Breast Neoplasms/genetics ; Risk Factors
    Chemical Substances Tumor Suppressor Protein p53 ; TP53 protein, human
    Language English
    Publishing date 2024-02-27
    Publishing country United States
    Document type Multicenter Study ; Journal Article
    ISSN 2473-4284
    ISSN (online) 2473-4284
    DOI 10.1200/PO.23.00453
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  4. Article ; Online: Mosaicism in PTEN-new case and comment on the literature.

    Rofes, Paula / Teulé, Álex / Feliubadaló, Lídia / Salinas, Mònica / Cuesta, Raquel / Iglesias, Sílvia / Campos, Olga / González, Sara / Capellá, Gabriel / Brunet, Joan / Del Valle, Jesús / Lázaro, Conxi

    European journal of human genetics : EJHG

    2022  Volume 30, Issue 6, Page(s) 641–644

    MeSH term(s) Humans ; Mosaicism ; PTEN Phosphohydrolase/genetics
    Chemical Substances PTEN Phosphohydrolase (EC 3.1.3.67) ; PTEN protein, human (EC 3.1.3.67)
    Language English
    Publishing date 2022-02-01
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-022-01052-7
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    Zs.A 3589: Show issues Location:
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  5. Article ; Online: Genomically matched therapy in refractory colorectal cancer according to ESMO Scale for Clinical Actionability of Molecular Targets: experience of a comprehensive cancer centre network.

    Mulet Margalef, Núria / Castillo, Carmen / Mosteiro, Miguel / Pérez, Xavier / Aguilar, Susana / Ruíz-Pace, Fiorella / Gil, Marta / Cuadra, Carmen / Ruffinelli, José Carlos / Martínez, Mercedes / Losa, Ferran / Soler, Gema / Teulé, Àlex / Castany, Roser / Gallego, Rosa / Ruíz, Andrea / Garralda, Elena / Élez, Elena / Vivancos, Ana /
    Tabernero, Josep / Salazar, Ramon / Dienstmann, Rodrigo / Santos Vivas, Cristina

    Molecular oncology

    2023  Volume 17, Issue 9, Page(s) 1908–1916

    Abstract: Efficiency of expanded genomic profiling (EGP) programmes in terms of final inclusion of patients in genomically matched therapies is still unknown. Fit patients with advanced and refractory colorectal cancer (CRC) were selected for an EGP programme. ... ...

    Abstract Efficiency of expanded genomic profiling (EGP) programmes in terms of final inclusion of patients in genomically matched therapies is still unknown. Fit patients with advanced and refractory colorectal cancer (CRC) were selected for an EGP programme. Next-generation sequencing (NGS) analysis from formalin-fixed paraffin-embedded tumour samples was performed. The purpose was to describe the prevalence of genomic alterations defined by the ESMO Scale for Clinical Actionability of Molecular Targets (ESCAT), as well as the percentage of patients finally included in genomically guided clinical trials. In total, 187 patients were recruited. Mutational profile was obtained in 177 patients (10 patients were failure due to insufficient tumour sample), copy number alterations in 41 patients and fusions in 31 patients. ESCAT-defined alterations were detected in 28.8% of the intention-to-analyse population. BRAF V600E was clustered in ESCAT I, with a prevalence of 3.7%, KRAS G12C and ERBB2 amplification were clustered in ESCAT II, whose prevalence was 4.2% and 1.6%, respectively. Most alterations were classified in ESCAT III (mutations in ERBB2, PIK3CA or FGFR genes and MET amplification) and IV (mutations in BRAF non-V600E, ERBB3, FBXW7, NOTCH, RNF43), with a single prevalence under 5%, except for PIK3CA mutation (9%). The final rate of inclusion into genomically guided clinical trials was 2.7%, including therapies targeting BRAF V600E or RNF43 mutations in two patients each, and ERBB2 mutation in one patient. In conclusion, EGP programmes in patients with advanced CRC are feasible and identify a subset of patients with potentially druggable genomic alterations. However, further efforts must be made to increase the rate of patients treated with genomically guided therapies.
    MeSH term(s) Humans ; Proto-Oncogene Proteins B-raf/genetics ; Colorectal Neoplasms/genetics ; Mutation/genetics ; Genomics ; High-Throughput Nucleotide Sequencing
    Chemical Substances Proto-Oncogene Proteins B-raf (EC 2.7.11.1)
    Language English
    Publishing date 2023-06-12
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2415106-3
    ISSN 1878-0261 ; 1574-7891
    ISSN (online) 1878-0261
    ISSN 1574-7891
    DOI 10.1002/1878-0261.13444
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    Zs.A 6637: Show issues Location:
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  6. Article ; Online: Sex differences on multikinase inhibitors toxicity in patients with advanced gastroenteropancreatic neuroendocrine tumours.

    Hernando, Jorge / Roca-Herrera, Maria / García-Álvarez, Alejandro / Raymond, Eric / Ruszniewski, Philippe / Kulke, Matthew H / Grande, Enrique / García-Carbonero, Rocío / Castellano, Daniel / Salazar, Ramón / Ibrahim, Toni / Teule, Alex / Alonso, Vicente / Fazio, Nicola / Valle, Juan W / Tafuto, Salvatore / Carmona, Ana / Navarro, Victor / Capdevila, Jaume

    European journal of cancer (Oxford, England : 1990)

    2023  Volume 188, Page(s) 39–48

    Abstract: Purpose: There is an increasing interest in the role of sex and gender in cancer patients. The impact of sex differences in oncological systemic therapies is still unknown, and there is a lack of evidence specially in uncommon neoplasms like ... ...

    Abstract Purpose: There is an increasing interest in the role of sex and gender in cancer patients. The impact of sex differences in oncological systemic therapies is still unknown, and there is a lack of evidence specially in uncommon neoplasms like neuroendocrine tumours (NET). In the present study, we combine the differential toxicities by sex in five published clinical trials with multikinase inhibitors (MKI) in gastroenteropancreatic (GEP) NET.
    Methods: We performed a pooled univariate analysis of reported toxicity in patients treated in five phase 2 and phase 3 clinical trials with MKI in the GEP NET setting: sunitinib (SU11248, SUN1111), Pazopanib (PAZONET), sorafenib-bevacizumab (GETNE0801) and Lenvatinib (TALENT). Differential toxicities between male and female patients were evaluated considering relationship with study drug and different weights of each trial by random effect adjustment.
    Results: We found nine toxicities which were more frequent in female patients (leukopenia, alopecia, vomiting, headache, bleeding, nausea, dysgeusia, neutrophil count decreased and dry mouth) and two toxicities being more frequent in male patients (Anal Symptoms and Insomnia). Asthenia and diarrhoea were the only severe (Grade 3-4) toxicities more frequent in female patients.
    Conclusions: Sex-related differences in toxicity with the MKI treatment require targeted information and individualised management of patients with NET. Differential reporting of toxicity should be promoted when clinical trials are published.
    MeSH term(s) Humans ; Female ; Male ; Neuroendocrine Tumors/drug therapy ; Sex Characteristics ; Sunitinib/therapeutic use ; Sorafenib/therapeutic use ; Bevacizumab/therapeutic use
    Chemical Substances Sunitinib (V99T50803M) ; Sorafenib (9ZOQ3TZI87) ; Bevacizumab (2S9ZZM9Q9V)
    Language English
    Publishing date 2023-04-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 82061-1
    ISSN 1879-0852 ; 0277-5379 ; 0959-8049 ; 0964-1947
    ISSN (online) 1879-0852
    ISSN 0277-5379 ; 0959-8049 ; 0964-1947
    DOI 10.1016/j.ejca.2023.04.013
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  7. Article ; Online: Ectopic Cushing's syndrome due to thymic neuroendocrine tumours: a systematic review.

    Guerrero-Pérez, Fernando / Peiró, Inmaculada / Marengo, Agustina Pia / Teulé, Alex / Ruffinelli, José Carlos / Llatjos, Roger / Serrano, Teresa / Macia, Ivan / Vilarrasa, Nuria / Iglesias, Pedro / Villabona, Carles

    Reviews in endocrine & metabolic disorders

    2021  Volume 22, Issue 4, Page(s) 1041–1056

    Abstract: Knowledge of ectopic Cushing's syndrome (CS) due to thymic neuroendocrine tumours (NETs) comes from short series or single cases. Our aim is to perform a systematic review using PubMed, Embase, Scopus, Ovid Medline and Biosis Previews of all cases with ... ...

    Abstract Knowledge of ectopic Cushing's syndrome (CS) due to thymic neuroendocrine tumours (NETs) comes from short series or single cases. Our aim is to perform a systematic review using PubMed, Embase, Scopus, Ovid Medline and Biosis Previews of all cases with ectopic CS due to thymic NETs reported in the last 40 years and describe one illustrative patient attended in our institution. Search of literature: From 162 patients, 58.6% were male and mean age was 34.6 ± 13.9 years-old. Median of symptoms until diagnosis was 6 [2-24] months and 62% had aggressive CS. Imaging was positive in 93.7% (chest X-ray), 97.8% (computed tomography), 80.7% (somatostatin receptor scintigraphy) and median tumour size was 47 [25-68.5] mm. At presentation, 18% had localized disease, 26.2% locally invasive and 55.7% advanced. Eighty-eight present underwent surgery and histological subtypes were atypical (46.7%), typical (30.4%) and carcinoma (21.7%). Tumour persisted or recurred in 70.1%, 63% received radiotherapy and 45.2% chemotherapy. Follow-up median was 26.6 [14.5-57.5] months and mortality was reported in 35.8% with median survival of 38 [19-60] months. MEN-1 mutation was referred in 3.1%. Comparatively, carcinomas had aggressive CS more frequently while atypical showed advanced disease more often. In conclusion, thymic NETs causing ectopic CS are presented as aggressive hypercortisolism in the middle aged population. The disease is commonly extended at diagnosis and persists or recurs after surgery in most patients with a short term high mortality.
    MeSH term(s) ACTH Syndrome, Ectopic/complications ; ACTH Syndrome, Ectopic/diagnosis ; ACTH Syndrome, Ectopic/surgery ; Adult ; Cushing Syndrome/diagnosis ; Cushing Syndrome/etiology ; Humans ; Male ; Middle Aged ; Neuroendocrine Tumors/complications ; Thymoma/complications ; Thymus Neoplasms/diagnosis ; Thymus Neoplasms/pathology ; Thymus Neoplasms/surgery ; Young Adult
    Language English
    Publishing date 2021-05-07
    Publishing country Germany
    Document type Journal Article ; Review ; Systematic Review
    ZDB-ID 2185718-0
    ISSN 1573-2606 ; 1389-9155
    ISSN (online) 1573-2606
    ISSN 1389-9155
    DOI 10.1007/s11154-021-09660-2
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    Zs.A 6069: Show issues Location:
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  8. Article ; Online: Biological basis of extensive pleiotropy between blood traits and cancer risk.

    Pardo-Cea, Miguel Angel / Farré, Xavier / Esteve, Anna / Palade, Joanna / Espín, Roderic / Mateo, Francesca / Alsop, Eric / Alorda, Marc / Blay, Natalia / Baiges, Alexandra / Shabbir, Arzoo / Comellas, Francesc / Gómez, Antonio / Arnan, Montserrat / Teulé, Alex / Salinas, Monica / Berrocal, Laura / Brunet, Joan / Rofes, Paula /
    Lázaro, Conxi / Conesa, Miquel / Rojas, Juan Jose / Velten, Lars / Fendler, Wojciech / Smyczynska, Urszula / Chowdhury, Dipanjan / Zeng, Yong / He, Housheng Hansen / Li, Rong / Van Keuren-Jensen, Kendall / de Cid, Rafael / Pujana, Miquel Angel

    Genome medicine

    2024  Volume 16, Issue 1, Page(s) 21

    Abstract: Background: The immune system has a central role in preventing carcinogenesis. Alteration of systemic immune cell levels may increase cancer risk. However, the extent to which common genetic variation influences blood traits and cancer risk remains ... ...

    Abstract Background: The immune system has a central role in preventing carcinogenesis. Alteration of systemic immune cell levels may increase cancer risk. However, the extent to which common genetic variation influences blood traits and cancer risk remains largely undetermined. Here, we identify pleiotropic variants and predict their underlying molecular and cellular alterations.
    Methods: Multivariate Cox regression was used to evaluate associations between blood traits and cancer diagnosis in cases in the UK Biobank. Shared genetic variants were identified from the summary statistics of the genome-wide association studies of 27 blood traits and 27 cancer types and subtypes, applying the conditional/conjunctional false-discovery rate approach. Analysis of genomic positions, expression quantitative trait loci, enhancers, regulatory marks, functionally defined gene sets, and bulk- and single-cell expression profiles predicted the biological impact of pleiotropic variants. Plasma small RNAs were sequenced to assess association with cancer diagnosis.
    Results: The study identified 4093 common genetic variants, involving 1248 gene loci, that contributed to blood-cancer pleiotropism. Genomic hotspots of pleiotropism include chromosomal regions 5p15-TERT and 6p21-HLA. Genes whose products are involved in regulating telomere length are found to be enriched in pleiotropic variants. Pleiotropic gene candidates are frequently linked to transcriptional programs that regulate hematopoiesis and define progenitor cell states of immune system development. Perturbation of the myeloid lineage is indicated by pleiotropic associations with defined master regulators and cell alterations. Eosinophil count is inversely associated with cancer risk. A high frequency of pleiotropic associations is also centered on the regulation of small noncoding Y-RNAs. Predicted pleiotropic Y-RNAs show specific regulatory marks and are overabundant in the normal tissue and blood of cancer patients. Analysis of plasma small RNAs in women who developed breast cancer indicates there is an overabundance of Y-RNA preceding neoplasm diagnosis.
    Conclusions: This study reveals extensive pleiotropism between blood traits and cancer risk. Pleiotropism is linked to factors and processes involved in hematopoietic development and immune system function, including components of the major histocompatibility complexes, and regulators of telomere length and myeloid lineage. Deregulation of Y-RNAs is also associated with pleiotropism. Overexpression of these elements might indicate increased cancer risk.
    MeSH term(s) Humans ; Female ; Genome-Wide Association Study ; Phenotype ; Quantitative Trait Loci ; Genetic Pleiotropy ; Neoplasms/genetics ; Polymorphism, Single Nucleotide ; Genetic Predisposition to Disease
    Language English
    Publishing date 2024-02-02
    Publishing country England
    Document type Journal Article
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-024-01294-8
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  9. Article ; Online: Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.

    Torres-Esquius, Sara / Llop-Guevara, Alba / Gutiérrez-Enríquez, Sara / Romey, Marcel / Teulé, Àlex / Llort, Gemma / Herrero, Ana / Sánchez-Henarejos, Pilar / Vallmajó, Anna / González-Santiago, Santiago / Chirivella, Isabel / Cano, Juana Maria / Graña, Begoña / Simonetti, Sara / Díaz de Corcuera, Isabela / Ramon Y Cajal, Teresa / Sanz, Judit / Serrano, Sara / Otero, Andrea /
    Churruca, Cristina / Sánchez-Heras, Ana Beatriz / Servitja, Sonia / Guillén-Ponce, Carmen / Brunet, Joan / Denkert, Carsten / Serra, Violeta / Balmaña, Judith

    JAMA network open

    2024  Volume 7, Issue 4, Page(s) e247811

    Abstract: Importance: RAD51C and RAD51D are involved in DNA repair by homologous recombination. Germline pathogenic variants (PVs) in these genes are associated with an increased risk of ovarian and breast cancer. Understanding the homologous recombination ... ...

    Abstract Importance: RAD51C and RAD51D are involved in DNA repair by homologous recombination. Germline pathogenic variants (PVs) in these genes are associated with an increased risk of ovarian and breast cancer. Understanding the homologous recombination deficiency (HRD) status of tumors from patients with germline PVs in RAD51C/D could guide therapeutic decision-making and improve survival.
    Objective: To characterize the clinical and tumor characteristics of germline RAD51C/D PV carriers, including the evaluation of HRD status.
    Design, setting, and participants: This retrospective cohort study included 91 index patients plus 90 relatives carrying germline RAD51C/D PV (n = 181) in Spanish hospitals from January 1, 2014, to December 31, 2021. Genomic and functional HRD biomarkers were assessed in untreated breast and ovarian tumor samples (n = 45) from June 2022 to February 2023.
    Main outcomes and measures: Clinical and pathologic characteristics were assessed using descriptive statistics. Genomic HRD by genomic instability scores, functional HRD by RAD51, and gene-specific loss of heterozygosity were analyzed. Associations between HRD status and tumor subtype, age at diagnosis, and gene-specific loss of heterozygosity in RAD51C/D were investigated using logistic regression or the t test.
    Results: A total of 9507 index patients were reviewed, and 91 patients (1.0%) were found to carry a PV in RAD51C/D; 90 family members with a germline PV in RAD51C/D were also included. A total of 157 of carriers (86.7%) were women and 181 (55.8%) had received a diagnosis of cancer, mainly breast cancer or ovarian cancer. The most prevalent PVs were c.1026+5_1026+7del (11 of 56 [19.6%]) and c.709C>T (9 of 56 [16.1%]) in RAD51C and c.694C>T (20 of 35 [57.1%]) in RAD51D. In untreated breast cancer and ovarian cancer, the prevalence of functional and genomic HRD was 55.2% (16 of 29) and 61.1% (11 of 18) for RAD51C, respectively, and 66.7% (6 of 9) and 90.0% (9 of 10) for RAD51D. The concordance between HRD biomarkers was 91%. Tumors with the same PV displayed contrasting HRD status, and age at diagnosis did not correlate with the occurrence of HRD. All breast cancers retaining the wild-type allele were estrogen receptor positive and lacked HRD.
    Conclusions and relevance: In this cohort study of germline RAD51C/D breast cancer and ovarian cancer, less than 70% of tumors displayed functional HRD, and half of those that did not display HRD were explained by retention of the wild-type allele, which was more frequent among estrogen receptor-positive breast cancers. Understanding which tumors are associated with RAD51C/D and HRD is key to identify patients who can benefit from targeted therapies, such as PARP (poly [adenosine diphosphate-ribose] polymerase) inhibitors.
    MeSH term(s) Adult ; Female ; Humans ; Breast Neoplasms/genetics ; Breast Neoplasms/epidemiology ; DNA-Binding Proteins/genetics ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Homologous Recombination/genetics ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/epidemiology ; Prevalence ; Retrospective Studies ; Spain/epidemiology ; Rad51 Recombinase/genetics
    Chemical Substances DNA-Binding Proteins ; RAD51C protein, human ; RAD51D protein, human ; Rad51 Recombinase (EC 2.7.7.-)
    Language English
    Publishing date 2024-04-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2574-3805
    ISSN (online) 2574-3805
    DOI 10.1001/jamanetworkopen.2024.7811
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  10. Article ; Online: Colorectal cancer: from prevention to personalized medicine.

    Binefa, Gemma / Rodríguez-Moranta, Francisco / Teule, Alex / Medina-Hayas, Manuel

    World journal of gastroenterology

    2014  Volume 20, Issue 22, Page(s) 6786–6808

    Abstract: Colorectal cancer (CRC) is a very heterogeneous disease that is caused by the interaction of genetic and environmental factors. CRC develops through a gradual accumulation of genetic and epigenetic changes, leading to the transformation of normal colonic ...

    Abstract Colorectal cancer (CRC) is a very heterogeneous disease that is caused by the interaction of genetic and environmental factors. CRC develops through a gradual accumulation of genetic and epigenetic changes, leading to the transformation of normal colonic mucosa into invasive cancer. CRC is one of the most prevalent and incident cancers worldwide, as well as one of the most deadly. Approximately 1235108 people are diagnosed annually with CRC, and 609051 die from CRC annually. The World Health Organization estimates an increase of 77% in the number of newly diagnosed cases of CRC and an increase of 80% in deaths from CRC by 2030. The incidence of CRC can benefit from different strategies depending on its stage: health promotion through health education campaigns (when the disease is not yet present), the implementation of screening programs (for detection of the disease in its early stages), and the development of nearly personalized treatments according to both patient characteristics (age, sex) and the cancer itself (gene expression). Although there are different strategies for screening and although the number of such strategies is increasing due to the potential of emerging technologies in molecular marker application, not all strategies meet the criteria required for screening tests in population programs; the three most accepted tests are the fecal occult blood test (FOBT), colonoscopy and sigmoidoscopy. FOBT is the most used method for CRC screening worldwide and is also the primary choice in most population-based screening programs in Europe. Due to its non-invasive nature and low cost, it is one of the most accepted techniques by population. CRC is a very heterogeneous disease, and with a few exceptions (APC, p53, KRAS), most of the genes involved in CRC are observed in a small percentage of cases. The design of genetic and epigenetic marker panels that are able to provide maximum coverage in the diagnosis of colorectal neoplasia seems a reasonable strategy. In recent years, the use of DNA, RNA and protein markers in different biological samples has been explored as strategies for CRC diagnosis. Although there is not yet sufficient evidence to recommend the analysis of biomarkers such as DNA, RNA or proteins in the blood or stool, it is likely that given the quick progression of technology tools in molecular biology, increasingly sensitive and less expensive, these tools will gradually be employed in clinical practice and will likely be developed in mass.
    MeSH term(s) Animals ; Antineoplastic Agents/therapeutic use ; Biomarkers, Tumor/analysis ; Biomarkers, Tumor/blood ; Biomarkers, Tumor/genetics ; Chemoradiotherapy, Adjuvant ; Chemotherapy, Adjuvant ; Colectomy ; Colonoscopy ; Colorectal Neoplasms/epidemiology ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/metabolism ; Colorectal Neoplasms/pathology ; Colorectal Neoplasms/prevention & control ; Colorectal Neoplasms/therapy ; Feces/chemistry ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Mass Screening/methods ; Molecular Targeted Therapy ; Patient Selection ; Phenotype ; Precision Medicine ; Predictive Value of Tests ; Primary Prevention/methods ; Secondary Prevention/methods
    Chemical Substances Antineoplastic Agents ; Biomarkers, Tumor
    Language English
    Publishing date 2014-04-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2185929-2
    ISSN 2219-2840 ; 1007-9327
    ISSN (online) 2219-2840
    ISSN 1007-9327
    DOI 10.3748/wjg.v20.i22.6786
    Database MEDical Literature Analysis and Retrieval System OnLINE

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