Estimates of breast cancer association for loci (two confirmatory loci at FGFR2 and TOX3, and two novel loci with stage 1 and 2 combined of p<10−4) among BRCA2 mutation carriers in a two-staged genome-wide association study.



DOI:10.1371/journal.pgen.1001183.t001, Dimensions: 492244,




  1. (1) University of Cambridge, grid.5335.0
  2. (2) Aix-Marseille University, grid.5399.6
  3. (3) University of Chicago Medical Center, grid.412578.d
  4. (4) Mayo Clinic, grid.66875.3a
  5. (5) QIMR Berghofer Medical Research Institute, grid.1049.c
  6. (6) Rigshospitalet, grid.475435.4, Capital Region
  7. (7) Nottingham University Hospitals NHS Trust, grid.240404.6


1p-value was calculated based on the 1-degree of freedom score test statistic stratified by country of study and 6174delT (c.5946delT) mutation status, and modified to allow for the non-independence among related individuals.2Per allele hazard ratios (HR) (i.e., multiplicative model) were estimated on the log scale, assuming independence of age, using the retrospective likelihood. All analyses were stratified by country of residence and 6174delT (c.5946delT) mutation status, and used calendar-year- and cohort-specific breast cancer incidence rates for BRCA2. The combined stage 1 and stage 2 analyses were also stratified by stage.3The region also includes other possible genes including SRMS, PTK6, STMN3, and TNFRSF6 among others.


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