Amb motiu del tancament d'estiu, la validació de documents es reprendrà a partir del 28 d'agost de 2026. Disculpeu les molèsties.
Con motivo del cierre de verano, la validación de documentos se reanudará a partir del 28 de agosto de 2026. Disculpad las molestias
Due to the summer closure, document validation will resume starting August 28, 2026. We apologize for any inconvenience.

Fitxers

Identification of ten variants.pdf (321.61 KB)

Tipus de document

Article

Versió

Versió acceptada

Data de publicació

2017-12-01

Tots els drets reservats

Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/124208

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Títol de la revista

Autors

Director/Tutor

ISSN de la revista

Títol del volum

Recurs relacionat

http://dx.doi.org/10.1038/ng.3785

Resum

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease(1). We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 x 10(-8) with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.

Matèries

Càncer de mama

Matèries (anglès)

Breast cancer

Citació

Col·leccions

Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

LÁZARO GARCÍA, Conxi, ProCURE and GENETIC COUNSELING UNIT, Hereditary Cancer Program. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nature Genetics. 2017. Vol. 49, num. 12, pags. 1767-1778. [consulted: 22 of August of 2026]. Available at: https://hdl.handle.net/2445/124208

Exportar metadades

JSON - METS

Compartir registre