BRCA genes: new applications and precautions

Mathilde Regnault
An innovative cancer treatment reveals new uses in understanding alterations in BRCA genes in some patients. Yet as Dominique Stoppa-Lyonnet, head of Institut Curie’s genetics department and professor at Paris-Descartes University will explain at the ESMO congress in Munich on 19 October, these patients must be given the right information and support.
Dominique Stoppa Lyonnet

We know that alterations in BRCA (BRCA1 and BRCA2) genes are linked to a risk of breast and ovarian cancer. But we’re now discovering that they may also be involved to a much lesser extent in other tumor locations. These alterations can be constitutional, meaning present in all the body’s cells, or somatic, meaning present in tumor cells alone. 

Prof. Dominique Stoppa-Lyonnet is a renowned BRCA specialist at Institut Curie: “These are DNA repair genes. When they are altered, the cells are more vulnerable to DNA damage caused by chemotherapy,” she explains. And now, another DNA repair pathway, PARP enzymes, may be the focus of a new cancer treatment. If one repair pathway is blocked by a genetic anomaly and the other by medication, the effects of chemotherapy can be amplified. Looking for alterations in BRCA genes in patients suffering from breast, ovarian, pancreatic, lung and prostate cancer may therefore allow these patients to enjoy access where appropriate to these new anti-PARP medications. But it’s important to note that “discovering alterations in cancerous cells may reveal that they are present across all the organism’s cells. This can mean that these alterations may have been passed on to the patient’s children, which can be a source of worry and anxiety for the patients in question. We don’t yet have the facilities to offer specialized oncogenetic consultations to all these patients, which is why we need to develop written or video materials ahead of testing to ensure patients understand the consequences and potential outcomes. If requested to do so, we also need to be able to direct them to a genetic counsellor or geneticist and a psychologist,” warns Prof. Stoppa-Lyonnet. That’s the message she’ll be sharing with oncologists on 19 October at the European Society for Medical Oncology‘s annual congress in Munich.