@article{10272/16820,
year = {2018},
month = {2},
url = {http://hdl.handle.net/10272/16820},
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.},
organization = {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.},
publisher = {Nature Research},
keywords = {Breast cancer score},
keywords = {Spanish women},
keywords = {MCC-Spain},
title = {Validating a breast cancer score in Spanish women. The MCC-Spain study},
doi = {10.1038/s41598-018-20832-0},
author = {Dierssen Sotos, Trinidad and Gómez Acebo, Inés and Palazuelos, Camilo and Bayo Calero, Juan Lucas and Llorca, Javier},
}