A 34-year-old woman from Milton Keynes is speaking publicly about inheriting a harmful BRCA2 gene mutation and is urging greater awareness of genetic testing and clinical trials, particularly in communities with lower screening uptake.
Family history led to testing
Following a string of cancer diagnoses in her family, including the death of her father in June 2023 at the age of 57, Siobhan Rehman underwent genetic testing and was found to carry the BRCA2 fault. BRCA2 is involved in DNA repair, and some mutations in the gene substantially increase the risk of developing cancers such as breast cancer in both women and men.
Ms Rehman has spoken of the impact of witnessing her father’s illness and his participation in clinical research. She said this experience influenced her decision to pursue testing and later to enrol in a clinical study designed for people with inherited mutations.
"My dad first became aware he had cancer when his partner noticed that his nipple had inverted ... I was with him along the journey"
Joining EMBRACE trial and raising awareness
After testing positive, Ms Rehman was referred to specialists and has since joined the EMBRACE clinical trial, which is funded by Cancer Research UK. The study gathers information from people with inherited breast cancer gene mutations through remote questionnaires and local blood tests, aiming to improve future screening and treatment.
She is using her experience to inform others about the importance of testing and participation in research. Ms Rehman, who is of Black Caribbean and Asian Pakistani heritage, highlighted disparities that affect cancer outcomes and screening uptake in some communities and said she felt well placed to speak to those groups.
Practical implications for families
Ms Rehman said that several relatives tested positive in the family and that multiple family members had been diagnosed with cancer. She described making lifestyle adjustments and following specialist medical advice since her diagnosis.
- Local action: Individuals with strong family histories of cancer are advised to seek GP referral for genetic counselling.
- Clinical trials: Participation can offer closer monitoring and contribute to research that shapes future screening and treatment.
- Awareness: Men can carry BRCA2 mutations and may develop breast cancer, a fact Ms Rehman highlights in her outreach.
| Item | Detail |
|---|---|
| Age | 34 |
| Father's age at death | 57 |
| Trial joined | EMBRACE (Cancer Research UK-funded) |
Campaigning by local residents such as Ms Rehman aims to prompt more routine screening and greater understanding of inherited cancer risk. Health professionals recommend that anyone with multiple relatives affected by breast, ovarian or related cancers discuss genetic testing with their GP or a genetic counsellor to determine appropriate screening and preventive measures.
