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Open Access Clinical classification of regulatory variants in breast cancer susceptibility genes - NHMRC

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Genetic testing of breast cancer susceptibility genes frequently identifies gene variants of uncertain clinical significance. Unclassified variants are a major clinical challenge as they complicate test reporting and genetic counselling, limit patient eligibility for intensive surveillance and gene-targeted therapies, and prevent gene testing and guided management of relatives. This project will test the hypothesis that DNA sequence variants in well-annotated regulatory regions of multiple breast cancer susceptibility genes confer a significant increased risk of breast cancer.

The overall aim of this project is to develop clinically useful tools for the classification of sequence variants that map to regulatory regions of breast cancer susceptibility genes that are currently included in multi-cancer gene testing panels.Genetic testing of breast cancer susceptibility genes frequently identifies gene variants of uncertain clinical significance.

Unclassified variants are a major clinical challenge as they complicate test reporting and genetic counselling, limit patient eligibility for intensive surveillance and gene-targeted therapies, and prevent gene testing and guided management of relatives. This project will test the hypothesis that DNA sequence variants in well-annotated regulatory regions of multiple breast cancer susceptibility genes confer a significant increased risk of breast cancer. The overall aim of this project is to develop clinically useful tools for the classification of sequence variants that map to regulatory regions of breast cancer susceptibility genes that are currently included in multi-cancer gene testing panels.
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Keywords: AUSTRALIA; BREAST CANCER; CANCER SUSCEPTIBILITY GENES; GENE REGULATION; GENE REGULATORY VARIANTS; GENES; GENOMICS; LEUKAEMIA; MUTATIONS

Document Type: Research Article

Publication date: February 1, 2017

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