Actionable pathogenic variant detection in breast cancer genes

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Published: 6 Oct 2020
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Prof Gareth Evans - The Central Manchester NHS Foundation Trust, Manchester, UK

Prof. Gareth Evans speaks to ecancer about the high likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer, but low rate of additional panel genes.

This study was presented at EBCC-12 and aims at revolutionising breast cancer screening.

Prof. Evans initially speaks about the aims and objectives of the study and the methodology used to screen the patients.

He then explains the likelihood of genetic variance in relation to age and the types of genetic mutations that can be observed in those patients.

He says that apart from BRCA 1 and 2 mutations tp53 mutations can also be observed in women under the age of 30.

Prof. Evans further explains the key results observed in this study and how these observations can be used in future breast cancer screening and grouping.