Validating a breast cancer score in Spanish women. The MCC-Spain study

Autor: Gemma Castaño-Vinyals, Pablo Fernández-Navarro, Juan Bayo-Calero, Manolis Kogevinas, Jone M. Altzibar, Camilo Palazuelos, Paz Rodríguez-Cundín, Carmen González-Donquiles, Mariona Bustamante, Nuria Aragonés, Inés Gómez-Acebo, Beatriz Pérez-Gómez, Victor Moreno, Eva Ardanaz, María Ederra, Dolores Salas, Marina Pollán, Rafael Marcos-Gragera, Trinidad Dierssen-Sotos, Carmen Vidal, Laura Vilorio-Marqués, Javier Llorca, Jéssica Alonso-Molero, Pilar Amiano, Adonina Tardón
Přispěvatelé: Instituto de Salud Carlos III, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Fundación Marqués de Valdecilla, Ministerio de Economía y Competitividad (España), Red Temática de Investigación Cooperativa en Cáncer (España), Junta de Castilla y León (España), Regional Government of Andalusia (España), Generalitat Valenciana (España), Fundación La Caixa, Basque Government (España), Unión Europea. Comisión Europea, Asociación Española Contra el Cáncer, Universidad de Cantabria, Universitat de Barcelona
Rok vydání: 2018
Předmět:
0301 basic medicine
lcsh:Medicine
Dones
Spanish women
Logistic regression
Breast cancer
0302 clinical medicine
Risk Factors
Mass Screening
Breast -- Epidemiology
Breast -- Cancer
lcsh:Science
Multidisciplinary
Factors de risc en les malalties
MCC-Spain
Area Under Curve
030220 oncology & carcinogenesis
Female
medicine.medical_specialty
Risk factors in diseases
Breast cancer score
Factor score
Genetic counseling
European Continental Ancestry Group
Breast Neoplasms
Single-nucleotide polymorphism
Polymorphism
Single Nucleotide
Risk Assessment
Article
White People
Càncer de mama
Càncer -- Epidemiologia
03 medical and health sciences
Internal medicine
medicine
Humans
Genetic Predisposition to Disease
Women
Genetic Testing
Espanya
Risk factor
Author Correction
Genotyping
Models
Statistical
business.industry
lcsh:R
Reproducibility of Results
medicine.disease
Spanish population
Logistic Models
030104 developmental biology
ROC Curve
Spain
Case-Control Studies
Mama -- Càncer
lcsh:Q
business
Zdroj: Dipòsit Digital de la UB
Universidad de Barcelona
Scientific Reports
Arias Montano. Repositorio Institucional de la Universidad de Huelva
instname
Recercat. Dipósit de la Recerca de Catalunya
Scopus
Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientific Reports, 2018, vol. 8, art. 3036
Articles publicats (D-I)
DUGiDocs – Universitat de Girona
Sci Rep. 2018 Feb 14;8(1):3036
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
RUO. Repositorio Institucional de la Universidad de Oviedo
SCIENTIFIC REPORTS
r-FISABIO. Repositorio Institucional de Producción Científica
Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
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
ISSN: 2045-2322
Popis: A breast-risk score, published in 2016, was developed in white-American women using 92 genetic variants (GRS92), modifiable and non-modifiable risk factors. With the aim of validating the score in the Spanish population, 1,732 breast cancer cases and 1,910 controls were studied. The GRS92, modifiable and non-modifiable risk factor scores were estimated via logistic regression. SNPs without available genotyping were simulated as in the aforementioned 2016 study. The full model score was obtained by combining GRS92, modifiable and non-modifiable risk factor scores. Score performances were tested via the area under the ROC curve (AUROC), net reclassification index (NRI) and integrated discrimination improvement (IDI). Compared with non-modifiable and modifiable factor scores, GRS92 had higher discrimination power (AUROC: 0.6195, 0.5885 and 0.5214, respectively). Adding the non-modifiable factor score to GRS92 improved patient classification by 23.6% (NRI = 0.236), while the modifiable factor score only improved it by 7.2%. The full model AUROC reached 0.6244. A simulation study showed the ability of the full model for identifying women at high risk for breast cancer. In conclusion, a model combining genetic and risk factors can be used for stratifying women by their breast cancer risk, which can be applied to individualizing genetic counseling and screening recommendations.
The study was partially funded by the "Accion Transversal del Cancer" project, approved by the Spanish Council of Ministers on the 11th October 2007, by the Instituto de Salud Carlos III-FEDER (PI08/1770, PI08/0533, PI08/1359, PI09/00773-Cantabria, PI09/01286-Leon, PI09/01903-Valencia, PI09/02078-Huelva, PI09/01662-Granada, PI11/01403, PI11/01889-FEDER, PI11/00226, PI11/01810, PI11/02213, PI12/00488, PI12/00265, PI12/01270, PI12/00715, PI12/00150, PI14/01219), by the Fundacion Marques de Valdecilla (API 10/09), by the ICGC International Cancer Genome Consortium CLL (The ICGC CLL-Genome Project is funded by Spanish Ministerio de Economia y Competitividad (MINECO) through the Instituto de Salud Carlos III (ISCIII) and Red Tematica de Investigacion del Cancer (RTICC) del ISCIII (RD12/0036/0036)), by the Junta de Castilla y Leon (LE22A10-2), by the Consejeria de Salud of the Junta de Andalucia (2009-S0143), by the Conselleria de Sanitat of the Generalitat Valenciana (AP_061/10), by the Recercaixa (2010ACUP 00310), by the Regional Government of the Basque Country, by the European Commission grants FOOD-CT-2006-036224-HIWATE, by the Spanish Association Against Cancer (AECC) Scientific Foundation and by the Catalan Government DURSI grant 2009SGR1489.
Databáze: OpenAIRE
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