Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

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Zeng, Chenjie; Guo, Xingyi; Long, Jirong; Kuchenbaecker, Karoline B.; Droit, Arnaud; Michailidou, Kyriaki; Ghoussaini, Maya; Kar, Siddhartha; Freeman, Adam; Hopper, John L.; Milne, Roger L.; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Agata, Simona; Ahmed, Shahana; Aittomaki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arason, Adalgeir; Arndt, Volker; Arun, Banu K.; Arver, Brita; Bacot, Francois; Barrowdale, Daniel; Baynes, Caroline; Beeghly-Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; ... view all 50 authors
(2016)
  • Subject: PTHLH | LOCALIZATION | BRAC1 mutation carriers | EXPRESSION | ENHANCERS | SUSCEPTIBILITY LOCI | CCDC91 | Breast cancer | GENETIC MODIFIERS | Genetic risk factor | Fine-scale mapping | METASTASIS | OVARIAN-CANCER | HORMONE-RELATED PROTEIN | BRCA2 MUTATION CARRIERS | GENOME-WIDE ASSOCIATION

Background: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method: We performed a fine-scale mapping study of a 700 kb region including 441 g... View more