Journal article

Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21

Pablo Fernandez-Navarro, Anna Gonzalez-Neira, Guillermo Pita, Ramon Diaz-Uriarte, Leticia Tais Moreno, Maria Ederra, Carmen Pedraz-Pingarron, Carmen Sanchez-Contador, Jose Antonio Vazquez-Carrete, Pilar Moreo, Carmen Vidal, Dolores Salas-Trejo, Jennifer Stone, Melissa C Southey, John L Hopper, Beatriz Perez-Gomez, Javier Benitez, Marina Pollan



Mammographic density (MD) is an intermediate phenotype for breast cancer. Previous studies have identified genetic variants associated with MD; however, much of the genetic contribution to MD is unexplained. We conducted a two-stage genome-wide association analysis among the participants in the "Determinants of Density in Mammographies in Spain" study, together with a replication analysis in women from the Australian MD Twins and Sisters Study. Our discovery set covered a total of 3,351 Caucasian women aged 45 to 68 years, recruited from Spanish breast cancer screening centres. MD was blindly assessed by a single reader using Boyd's scale. A two-stage approach was employed, including a featu..

View full abstract


Awarded by Spain's Health Research Fund (Fondo de Investigacion Sanitaria)

Awarded by Astra-Zeneca

Awarded by Carlos III Institute of Health (Instituto de Salud Carlos III)

Awarded by Spanish Federation of Breast Cancer Patients

Awarded by Spanish MINECO

Awarded by National Breast Cancer Foundation

Funding Acknowledgements

Grant sponsor: Spain's Health Research Fund (Fondo de Investigacion Sanitaria); Grant numbers: FIS PI060386 and PIS09/01006; Grant sponsor: Collaboration Agreement between Astra-Zeneca and the Carlos III Institute of Health (Instituto de Salud Carlos III); Grant number: EPY 1306/06; Grant sponsor: Spanish Federation of Breast Cancer Patients; Grant number: FECMA 485 EPY 1170-10; Grant sponsor: Spanish MINECO; Grant number: BIO2009-12458