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BMJ 2010; 341 doi: http://dx.doi.org/10.1136/bmj.c4185 (Published 03 August 2010) Cite this as: BMJ 2010;341:c4185

Genetic risk score helps predict breast cancer but is no better than family history

A case-control study of more than 20 000 UK women and a review of other published studies confirmed that seven low penetrance single nucleotide polymorphisms, out of 14 studied, affect the risk of breast cancer. The association is strongest for FGFR2-rs2981582, TNRC9-rs3803662, and 2q35-rs13387042, which increase the risk of breast cancer 1.23, 1.20, and 1.16 times, respectively, in carriers of one high risk allele compared with two wild-type alleles.

Links with tumour characteristics were also seen: both FGFR2 and TNRC9 were more strongly associated with oestrogen receptor (ER) positive tumours than with oestrogen receptor negative tumours, whereas 2q35 showed a greater odds ratio for bilateral than unilateral disease (1.39, 95% CI 1.21 to 1.60 v 1.15, 1.11 to 1.20) and for lobular rather than ductal tumours.

Several polygenic risk scores that the authors constructed on the basis of these results help determine the risk of breast cancer: women who score in the top fifth are twice as likely to get breast cancer than those who score in the bottom fifth. Similarly, when the cumulative incidence of breast cancer before age 70 is estimated, on the basis of the frequencies of high risk alleles in Western populations, the risk scores predict breast cancer, and more so for oestrogen receptor positive tumours. However, the genetic risk score does not seem to improve prediction beyond established risk factors, such as family history.

Aim to avert delirium in elderly people in hospital

We know that delirium in elderly people in hospital is often followed by poor outcomes, but how much of this is the result of confounding factors? A review of observational studies tried to disentangle this.

In the primary analysis of 21 high quality studies, which were reported according to the “strengthening the reporting of observational studies in epidemiology” (STROBE) statement, delirium while in hospital in …

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