Genetic mapping can detect harmful mutations: expert

The potential for genetic medicine to give an early warning to women at risk of developing breast cancer was discussed at Weill Cornell Medicine - Qatar’s (WCM-Q) grand rounds.Dr Jeremie Arash Rafii Tabrizi, associate professor of genetic medicine in obstetrics/gynaecology at WCM-Q, said that genetic mapping can determine if a woman has a mutation in either of two specific genes, named BRCA1 and BRCA2. Harmful mutations in either of these genes carry significantly increased risk of breast and ovarian cancer. Dr Tabrizi said that early testing for the BRCA1 an BRCA2 genes can be extremely useful, allowing doctors to help patients to make interventions to reduce their risk of developing breast or ovarian cancer, and to take steps to preserve their ability to have children. As such, Dr Tabrizi is an advocate for all women being tested for BRCA1 and BRCA2 mutations at an early age, either in their late teens or early 20s. He said, “Our wish is to give women maximum control over their own bodies and their futures, and early testing provides this far more effectively than a late diagnosis and the invasive procedures that follow.” Interventions include drug therapies and lifestyle changes but the only truly effective intervention for breast cancer is bilateral mastectomy, which reduces risk by approximately 90%, but is invasive and traumatic. Similarly, the most effective preventative intervention for ovarian cancer is surgical removal of the ovaries. However, Dr Tabrizi said recent research has suggested most ovarian tumours actually begin in the fallopian tubes and that their removal could also be an effective preventative intervention.Dr Tabrizi also said that breast and ovarian cancer risk before the age of 30 is relatively low, even for carriers of BRCA1 and BRCA2 mutations. He said, “This means that a woman who is tested early and discovers she has BRCA1 or BRCA2 mutations can think about what she wants to do for quite a long time, make plans for the interventions she feels are right for her in a calm and considered way, speak with her family and partner, and take action to preserve her ability to have children by having her oocytes (eggs) frozen.”