dc.contributor
Institut Català de la Salut
dc.contributor
[Sánchez-Heras AB] Cancer Genetic Counselling Unit, Medical Oncology Department, Hospital General Universitario de Elche, Elche, Spain. [Castillejo A] Molecular Genetics Unit, Hospital General Universitario de Elche, Elche, Spain. [García-Díaz JD] Clinical Genetics Unit, Department of Internal Medicine, University Hospital Príncipe de Asturias, Alcalá de Henares, Spain. [Robledo M] Hereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, Madrid, Spain. [Teulé A] Hereditary Cancer Program, Catalan Institute of Oncology, Instituto de Investigación Biomédica de Bellvitge, Hospitalet de Llobregat, Spain. [Sánchez R] Unidad Multidisciplinar de Enfermedades de Baja Prevalencia, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Hospital General Universitario de Alicante, Alicante, Spain. [López-Fernández A, Balmaña J] Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Sánchez-Heras, A. Beatriz
dc.contributor.author
Castillejo, Adela
dc.contributor.author
García-Díaz, Juan D.
dc.contributor.author
Teulé, Alexandre
dc.contributor.author
Sánchez, Rosario
dc.contributor.author
Lopez Fernandez, Adrià
dc.contributor.author
Balmaña Gelpí, Judith
dc.contributor.author
Robledo, Mercedes
dc.date.issued
2021-08-27T08:50:12Z
dc.date.issued
2021-08-27T08:50:12Z
dc.date.issued
2020-11-05
dc.identifier
Sánchez-Heras AB, Castillejo A, García-Díaz JD, Robledo M, Teulé A, Sánchez R, et al. Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization. Cancers. 2020 Nov 5;12(11):3277.
dc.identifier
https://hdl.handle.net/11351/6243
dc.identifier
10.3390/cancers12113277
dc.identifier
:000592895600001
dc.description.abstract
Leiomiomatosi hereditària; Càncer de cèl·lules renals; Gen FH
dc.description.abstract
Leiomiomatosis hereditaria; Cáncer de células renales; Gen FH
dc.description.abstract
Hereditary leiomyomatosis; Renal cell cancer; FH gene
dc.description.abstract
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations. Analyses were performed using R 3.6.0. software. We included 197 individuals: 74 index cases and 123 relatives. CLMs were diagnosed in 65% of patients, ULMs in 90% of women, RCys in 37% and RCC in 10.9%. Twenty-seven different pathogenic variants were detected, 12 (44%) of them not reported previously. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants (p = 0.0380, p = 0.0015 and p = 0.024, respectively). This is the first report of patients with HLRCC from Spain. The frequency of RCCs was lower than those reported in the previously published series. Individuals with missense pathogenic variants had higher frequencies of CLMs, ULMs and RCys.
dc.description.abstract
This research received no external funding.
dc.format
application/pdf
dc.format
application/pdf
dc.relation
Cancers;12(11)
dc.relation
https://www.mdpi.com/2072-6694/12/11/3277
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Cèl·lules canceroses
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Ronyons - Malalties - Espanya
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DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Connective and Soft Tissue::Neoplasms, Muscle Tissue::Leiomyoma::Leiomyomatosis
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Other subheadings::Other subheadings::Other subheadings::/genetics
dc.subject
DISEASES::Male Urogenital Diseases::Urogenital Neoplasms::Urologic Neoplasms::Kidney Neoplasms::Male Urogenital Diseases::Carcinoma, Renal Cell
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GEOGRAPHICALS::Geographic Locations::Europe::Spain
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ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de tejido conjuntivo y de tejidos blandos::neoplasias de tejido muscular::leiomioma::leiomiomatosis
dc.subject
Otros calificadores::Otros calificadores::Otros calificadores::/genética
dc.subject
ENFERMEDADES::enfermedades urogenitales masculinas::neoplasias urogenitales::neoplasias urológicas::neoplasias renales::enfermedades urogenitales masculinas::carcinoma de células renales
dc.subject
DENOMINACIONES GEOGRÁFICAS::localizaciones geográficas::Europa (continente)::España
dc.title
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
