Eligible participants are:
- Identified through GPs as high risk, or as members of a family known to have a mutation, and referred to Clinical Genetics for counselling
- Undergoing, have undergone or may potentially undergo testing for these mutations (affected or unaffected with cancer);
- Those that have declined a predictive gene test but have been counselled by a genetics clinic.
Embrace is currently interested in the following genes:
- BRCA1
- BRCA2
- PALB2
- ATM
- CHEK2
- BRIP1
- RAD51C
- RAD51D
- BARD1
- PTEN
- TP53
- CDH1
Non-carriers in mutation families are also of interest as controls. Both males and females are eligible as are women who have had prophylactic surgery (mastectomy and/or oophorectomy).
Subjects who are not eligible are those:
- Under 18 years of age;
- Who are unable to give informed consent;
- Who at the local investigator’s ( Genetic Clinician) discretion are not thought; appropriate e.g. recent family bereavement, late stages of breast cancer, etc.
- Those whose mutation is known as non-pathogenic and hence does not cause increased risk of disease or where its clinical significance is not known