New genetic variant linked to pre-menopausal breast cancer


  • Dawn O'Shea
  • Univadis Medical News
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Researchers in Canada have identified a novel genetic variant which appears to confer a significant increase in risk for pre-menopausal breast cancer.

The team had previously identified a novel breast cancer susceptibility variant on chromosome 4q31.22 locus (rs1429142) which appears to confer additional risk among women of European ancestry, and particularly in relation to pre-menopausal breast cancer. Now the same team reports the validation of the findings in diverse populations.

The SNP rs1429142 showed association with overall breast cancer risk, with an odds ratio (OR) of 1.25 in the presence of the risk allele (95% CI 1.15-1.35; P = 4.35 × 108), and a 40 per cent elevated risk among pre-menopausal women (95% CI 1.26-1.56; P = 5.81 × 1010) in European populations, reflecting findings from the previous research.

Using international data from other genetic studies of breast cancer, the team was able to validate these findings in women of Chinese and African descent. They found that women of African descent were at a particularly high risk of pre-menopausal breast cancer as a result of the variant gene.

The research is published in the International Journal of Cancer.

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