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Title: Validating a breast cancer score in Spanish women. The MCC-Spain study
Author: Dierssen Sotos, Trinidad
Gómez Acebo, Inés
Palazuelos-Calderón, Camilo
Fernández Navarro, Pablo
Altzibar, Jone M.
González-Donquiles, Carmen
Ardanaz, Eva
Bustamante Pineda, Mariona
Alonso-Molero, Jéssica
Vidal, Carmen
Bayo-Calero, Juan
Tardón, Adonina
Salas, Dolores
Marcos Gragera, Rafael
Moreno Aguado, Víctor
Rodriguez-Cundin, Paz
Castaño-Vinyals, Gemma
Ederra, María
Vilorio-Marqués, Laura
Amiano, Pilar
Pérez Gómez, Beatriz
Aragonès Sanz, Núria
Kogevinas, Manolis
Pollán, Marina
Llorca Díaz, Javier
Keywords: Càncer de mama
Factors de risc en les malalties
Breast cancer
Risk factors in diseases
Issue Date: 14-Feb-2018
Publisher: Nature Publishing Group
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: Scientific Reports, 2018, vol. 8, p. 3036
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ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (ISGlobal)

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