Výsledky vyhledávání - "Estela Dámaso"

Akademický článek

Co‐occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome

Autor: Rosario Ferrer‐Avargues, María Isabel Castillejo, Estela Dámaso, Virginia Díez‐Obrero, Noemí Garrigos, Tatiana Molina, Alan Codoñer‐Alejos, Ángel Segura, Ana Beatriz Sánchez‐Heras, Adela Castillejo, José Luis Soto

Publikováno v: Cancer Communications, Vol 41, Iss 3, Pp 218-228 (2021)

Abstract Background Lynch syndrome (LS) is a hereditary condition characterized by a high risk of colorectal cancer, endometrial cancer, and other neoplasia associated with germline alterations in DNA mismatch repair genes. The classical genetic diag

Externí odkaz: https://doaj.org/article/1ecd637319c94345af1605f294d9face

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Akademický článek

The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals

Autor: Cristina Carrato, Carolina Sanz, Ana María Muñoz-Mármol, Ignacio Blanco, Marta Pineda, Jesús Del Valle, Estela Dámaso, Manel Esteller, Eva Musulen

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 9, p 4629 (2021)

Biallelic germline mismatch repair (MMR) gene (MLH1, MSH2, MSH6, and PMS2) mutations are an extremely rare event that causes constitutional mismatch repair deficiency (CMMRD) syndrome. CMMRD is underdiagnosed and often debuts with pediatric malignant

Externí odkaz: https://doaj.org/article/6b911734a5a44fb5ab665b3d2a8412e4

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Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

Autor: Monika Morak, Marta Pineda, Alexandra Martins, Pascaline Gaildrat, Hélène Tubeuf, Aurélie Drouet, Carolina Gómez, Estela Dámaso, Kerstin Schaefer, Verena Steinke-Lange, Udo Koehler, Andreas Laner, Julie Hauchard, Karine Chauris, Elke Holinski-Feder, Gabriel Capellá

Publikováno v: European journal of human genetics : EJHG. 30(9)

Over 20% of the DNA mismatch repair (MMR) germline variants in suspected Lynch syndrome patients are classified as variants of uncertain significance (VUS). Well-established functional assays are pivotal for assessing the biological impact of these v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8a12a3470ee37628b61410b1cd3809
https://pubmed.ncbi.nlm.nih.gov/35676339

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Co‐occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome

Autor: Tatiana Molina, Ana Beatriz Sánchez-Heras, Virginia Díez-Obrero, Ángel Segura, Alan Codoñer-Alejos, Noemi Garrigos, José Luis Soto, Adela Castillejo, María Isabel Castillejo, Estela Dámaso, Rosario Ferrer-Avargues

Publikováno v: RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Cancer Communications
Cancer Communications, Vol 41, Iss 3, Pp 218-228 (2021)

Background Lynch syndrome (LS) is a hereditary condition characterized by a high risk of colorectal cancer, endometrial cancer, and other neoplasia associated with germline alterations in DNA mismatch repair genes. The classical genetic diagnostic st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f88475c039757ff3236f57670b61bf2
http://hdl.handle.net/10045/114686

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Comprehensive constitutional genetic and epigenetic characterization of lynch-like individuals

Publikováno v: Cancers
Volume 12
Issue 7
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Cancers, Vol 12, Iss 1799, p 1799 (2020)
Repositorio Abierto de la UdL
Universitad de Lleida
Scientia
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)

Síndrome de Lynch; Panell de gens del càncer; Epimutació Síndrome de Lynch; Panel de genes del cáncer; Epimutación Lynch syndrome; Cancer genes panel; Epimutation The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec992fcfd5b5241a124c5ee385b889f9
https://hdl.handle.net/10459.1/70046

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Primary constitutional MLH1 epimutations: a focal epigenetic event

Autor: Daniel Rueda, Gabriel Capellá, Adela Castillejo, Estela Dámaso, Megan P. Hitchins, Julia Canet-Hermida, Marta Pineda, Angel Alonso, Matilde Navarro, Jesús del Valle, Anna Fernández, Fátima Marín, José Luis Soto, Juan de Dios García-Díaz, Daniela Turchetti, Conxi Lázaro, Maurizio Genuardi, Olga Campos, María del Mar Arias

Publikováno v: BRITISH JOURNAL OF CANCER
r-ISABIAL: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
Dipòsit Digital de la UB
Universidad de Barcelona
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
r-FISABIO. Repositorio Institucional de Producción Científica
British Journal of Cancer

Constitutional MLH1 epimutations are characterised by monoallelic methylation of the MLH1 promoter throughout normal tissues, accompanied by allele-specific silencing. The mechanism underlying primary MLH1 epimutations is currently unknown. The aim o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d6cba10643e6d937e24b3f421a91bc
https://doi.org/10.1038/s41416-018-0019-8

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Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis

Publikováno v: INTERNATIONAL JOURNAL OF CANCER
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)

In a proportion of patients presenting mismatch repair (MMR)-deficient tumors, no germline MMR mutations are identified, the so-called Lynch-like syndrome (LLS). Recently, MMR-deficient tumors have been associated with germline mutations in POLE and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb94c8a17fb767c8702e2001d87a6a5b
https://pubmed.ncbi.nlm.nih.gov/28577310

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Akademický článek

Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.

Autor: Sánchez-Heras, Ana Beatriz¹ (AUTHOR) sanchez_ana@gva.es, Dámaso, Estela^2,3 (AUTHOR), Castillejo, Adela^2,3 (AUTHOR), Robledo, Mercedes^4,5 (AUTHOR), Teulé, Alexandre⁶ (AUTHOR), Lázaro, Conxi⁶ (AUTHOR), Sánchez-Martínez, Rosario⁷ (AUTHOR), Zúñiga, Ángel⁸ (AUTHOR), López-Fernández, Adrià⁹ (AUTHOR), Balmaña, Judith⁹ (AUTHOR), Robles, Luis¹⁰ (AUTHOR), Ramon y Cajal, Teresa¹¹ (AUTHOR), Castillejo, M. Isabel^2,3 (AUTHOR), Ibañez, Raquel Perea¹ (AUTHOR), Sevila, Carmen Martínez¹ (AUTHOR), Sánchez-Mira, Andrea^2,3 (AUTHOR), Escandell, Inés¹² (AUTHOR), Gómez, Luís¹³ (AUTHOR), Berbel, Pere¹⁴ (AUTHOR), Soto, José Luis^2,3 (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 1/26/2024, Vol. 19 Issue 1, p1-7. 7p.

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Akademický článek

The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.

Autor: Carrato, Cristina¹ (AUTHOR) ccarrato@hotmail.com, Sanz, Carolina¹ (AUTHOR) cs301bis@yahoo.es, Muñoz-Mármol, Ana María¹ (AUTHOR) ammunoz.germanstrias@gencat.cat, Blanco, Ignacio² (AUTHOR) iblanco.germanstrias@gencat.cat, Pineda, Marta^3,4 (AUTHOR) mesteller@carrerasresearch.org, Del Valle, Jesús^3,4 (AUTHOR) jdelvalle@iconcologia.net, Dámaso, Estela³ (AUTHOR) edamaso.riquelme@gmail.com, Esteller, Manel^4,5,6,7 (AUTHOR), Musulen, Eva^1,5,8 (AUTHOR) eva.musulen@quironsalud.es, Lombardi, Giuseppe (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. May2021, Vol. 22 Issue 9, p4629-4629. 1p.

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