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15 December, 2022

Polygenic Risk Score in a cohort of 105 Breast Cancer patients previously tested with a multi gene panel for hereditary cancer

The study by the Genekor Scientific Team on “ The study by the Genekor Scientific Team on “Polygenic Risk Score in a cohort of 105 Breast Cancer patients previously tested with a multi gene panel for hereditary cancer”» «Polygenic Risk Score in a cohort of 105 Breast Cancer patients previously tested with a multi gene panel for hereditary cancerwas presented at the San Antonio Breast Cancer Symposium 2022 in the form of a Poster.

The Polygenic Risk Score is a tool used to identify and calculate the lifetime risk of breast cancer, and we are therefore investigating whether it can be used in a cohort of 105 patients to identify this risk.

The conclusions reached by the Genekor scientific team are:

  • PRS can asssit in the estimation of risk of developing breast cancer in approximately 30% of the people who are negative in genetic testing.
  • Jointly, pathogenic alteration in high and intermediate risk genes (20%) and PRS (30%) is estimated to justify 50% of women with risk of developing breast cancer
  • PRS does not seem to be able to assist in the improvement of the estimation of the risk in carriers of alterations in intermediate-risk genes but it helps in low-risk genes.

To read the poster click here.