Every October, the Pink October campaign reminds us of the importance of screening and research in the fight against breast cancer, the leading cause of cancer death among women.
While prevention and treatment have evolved considerably, one field now plays a decisive role: genetics and precision medicine.
Understanding breast cancer genetics
Breast cancer is not a single disease: there are many subtypes with different patterns of progression, treatment responses and prognoses.
- Inherited mutations, such as those in the BRCA1 and BRCA2 genes, greatly increase the risk of developing breast or ovarian cancer.
- Other genes, including PALB2, TP53, CDH1 and PTEN, are also involved.
- Alongside these hereditary forms, alterations acquired during life also influence tumour progression and resistance to treatment.
Precision medicine in action
Advances in genetic sequencing now make it possible to:
- identify high-risk patients through genetic testing,
- offer personalised prevention, including enhanced surveillance, prophylactic surgery and tailored nutritional and hormonal monitoring,
- guide treatment choices according to the tumour’s molecular profile. For women and men with metastatic breast cancer, treatment based on a well-defined tumour genomic profile is more effective than chemotherapy.
A striking example is the use of PARP inhibitors in patients with BRCA mutations, providing a new targeted treatment strategy.
Advances in screening and research
- Liquid biopsies, which analyse tumour DNA circulating in the blood, pave the way for earlier detection and dynamic monitoring of the disease.
- Epigenetic research explores how lifestyle factors — diet, stress and physical activity — modulate the expression of cancer-related genes, offering additional avenues for prevention.
Towards comprehensive, personalised care
Genetics is not limited to identifying risk. It forms part of a
comprehensive approach to the patient:
- tailored screening,
- personalised prevention,
- targeted treatments,
- enhanced psychosocial support.
In this sense, it offers a powerful way to transform Pink October into a precision medicine campaign for everyone.
During Pink October, highlighting this progress reminds us that research and innovation save lives, and that genetic prevention, combined with conventional screening, is an essential tool in the fight against this cancer.
ADNAcademy offers professionals training in genetics and epigenetics, tailored to each specialty, to help them integrate these advances into practice and contribute to more precise and
personalised medicine.