Interpreting Genomic Variation: Inherited Cancer Susceptibility








Last updated on May 24, 2024 3:16 am

Explore how robust variant interpretation is needed to support patients with increased risk of cancer with this healthcare course from St George’s University.

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Who is the course for?

This course would be suitable for:

• Clinical Genetics doctors (consultant and specialist registrars) • Clinical Scientists • Genetic Counsellors • Clinical Oncology doctors (consultants and specialist registrars) • Pathologists undertaking cancer MDTs • Specialist oncology nurses undertaking genetic testing

What topics will you cover?

Inherited genetic variation in familial cancer syndromes.

Tools for variant interpretation and how these are applied to the interpretation of cancer susceptibility gene variation.

The application of the ACMG framework to inherited cancer.

The implementation of a clinical framework to embed cancer susceptibility gene interpretation into clinical practice.

What will you achieve?

By the end of the course, you‘ll be able to…

Describe the importance of large scale collaborative infrastructure to standardise evidence based variant interpretation in cancer susceptibility genes

Apply the CanVIG-UK guidelines for variant interpretation to classify variants in cancer susceptibility genes involved in hereditary breast and ovarian cancer and Lynch Syndrome

Assess the strengths and weaknesses of the American College of Medical Genetics (ACMG) guidelines for variant interpretation in complex disease, such as cancer, compared to rare paediatric disease

Explore the different ways in which cancer susceptibility gene variant interpretation can impact on patient care

Assess the complexities of applying cancer susceptibility gene variant interpretation in clinical practice including the implications of reduced penetrance variants and potential changes in classifications over time

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