TABLE 20

Hazard ratios from the Cox model for age at the development of breast cancer in BRCA1 mutation carriers, by overall breast cancer risk score (split into quintiles)

Overall breast cancer risk scoreCategoryMedian age (years) at the development of breast cancer (95% CI)HR (95% CI)p-valueHarrell’s C
18 SNPsaQuintile 1 (highest risk)47.01 (44.4 to 49.98)1.00 (1.00)0.250.54
Quintile 246.35 (43.21 to 49.50)1.09 (0.75 to 1.59)
Quintile 351.34 (43.89 to 63.94)0.85 (0.56 to 1.27)
Quintile 444.33 (40.89 to 50.01)1.24 (0.85 to 1.80)
Quintile 5 (lowest risk)45.46 (43.06 to 47.59)1.20 (0.82 to 1.75)
3 SNPsbQuintile 1 (highest risk)44.64 (42.35 to 47.90)1.00 (1.00)0.120.51
Quintile 244.50 (43.04 to 48.62)0.97 (0.69 to 1.36)
Quintile 351.10 (41.67 to 62.50)0.70 (0.41 to 1.21)
Quintile 448.42 (45.46 to 52.06)0.74 (0.54 to 1.03)
Quintile 545.91 (39.38 to 54.47)0.94 (0.60 to 1.47)
9 SNPscQuintile 1(highest risk)46.60 (44.28 to 48.62)1.00 (1.00)0.920.48
Quintile 245.51 (43.06 to 50.18)1.12 (0.77 to 1.61)
Quintile 345.85 (44.05 to 54.24)0.83 (0.56 to 1.23)
Quintile 444.31 (41.08 to 49.50)1.11 (0.76 to 1.62)
Quintile 548.42 (43.23 to 51.90)0.99 (0.68 to 1.45)

HR, hazard ratio.

a

Validated in a general population. ORs and RAFs taken from Turnbull et al.131

b

Validated in BRCA1 mutation carriers. ORs and RAFs taken from Antoniou et al.136

c

Three SNPs validated in BRCA1 mutation carriers and six validated in a general population but not yet validated in BRCA1 mutation carriers. ORs and RAFs for the three validated SNPs taken from Antoniou et al.136 and for the six not yet validated in BRCA1 mutation carriers taken from Turnbull et al.131

Source: reproduced with permission from Ingham SL, Warwick J, Byers H, Lalloo F, Newman WG, Evans DGR. Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK. Clinical Genetics 2013, 84:1, 37–42, © 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.140

From: Chapter 3, Project 2: assessment of predictive value of new genetic variants

Cover of Improvement in risk prediction, early detection and prevention of breast cancer in the NHS Breast Screening Programme and family history clinics: a dual cohort study
Improvement in risk prediction, early detection and prevention of breast cancer in the NHS Breast Screening Programme and family history clinics: a dual cohort study.
Programme Grants for Applied Research, No. 4.11.
Evans DG, Astley S, Stavrinos P, et al.
Southampton (UK): NIHR Journals Library; 2016 Aug.
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