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New genetic markers linked to breast cancer risk

9 August 2010
Appeared in BioNews 570

A large prospective study has discovered new genetic variants associated with an increased risk of breast cancer.

The scientists from Oxford University in the UK compared data from over 10,000 women with breast cancer and 10,000 women without the disease. 

They analysed 14 SNPs (single nucleotide polymorphisms) alone and in combination that were previously associated with breast cancer, to see how they related to risk and cancer subtype.

The researchers also performed a meta-analysis on the data from this study and other related studies.

They found that SNPs in the FGFR1 and TNRC9 genes, as well as a third SNP on Chromosome 2, were associated with an overall increase in risk, and that prediction was most reliable for oestrogen receptor (ER) positive cancers and lower grade tumours.

The study concluded that women under 70 years of age with the highest polygenic risk scores had double the breast cancer risk of 8.8 per cent compared to 4.4 per cent in women with the lowest polygenic scores.

The PHG Foundation commenting on this research said: ‘This is an important study which evaluates the predictive value of selected genetic markers identified by different studies and finds that it varies for different tumour subtypes’.

‘Ultimately the combination of established and novel environmental and genetic risk factors could refine risk prediction for targeted population screening’.

The research is published in JAMA.

Genetic factors in breast cancer risk prediction
PHG Foundation |  5 August 2010
Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci
JAMA |  28 July 2010
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