Curation of cancer-predisposing gene variants in women who have been diagnosed with breast cancer

Variant curation is the process of collecting, combining and weighting evidence to determine if a genetic variant is pathogenic, benign or a variant of uncertain significance. This process has become the foundation stone for delivering any clinical diagnostic result. It is guided by the American College of Medical Genetics (ACMG) criteria which is an internationally integrated diagnostic framework developed in 2015 that enables the consistent evaluation and classification of variants. With the escalation of genetic sequencing information, variant curator skills are highly sought after in clinical genetics services and genetics research laboratories where they enable the return of genetic variants to patients and research participants. This project will involve the curation of genetic variants identified in research participants who have been diagnosed with breast cancer, providing an honours student with a foundational understanding of genetics, variant curation and the ACMG criteria.