A woman from Barcelona, mother of a three-year-old and ten-month-old child, was able to be diagnosed early and successfully treated for breast cancer after enrolling as a volunteer in a research project to detect the disease in breast milk.
“It was thanks to an article that you published in La Vanguardia,” recalls oncologist Cristina Saura, director of the project, from the Vall d’Hebron Institute of Oncology (VHIO).
Teresa, the patient, had read the article that Ana Macpherson published in 2020 about Saura's research project, which had just received a grant from the Fero foundation.
Her son was eight months old, she was still breastfeeding him, and she thought she could help with the investigation. “It never occurred to me that it could benefit me personally,” recalls Teresa, who works in the pharmaceutical sector and is familiar with the world of clinical research. “When I read the news, it seemed like a very interesting project from a scientific point of view and I thought I could contribute.”
She was admitted to the study because she had given birth to her child at the age of 47 and, due to age, was part of the group considered at risk of developing breast cancer during pregnancy or in the following months.
In accordance with the research protocol, Teresa provided a milk sample from each breast at that time, as well as a blood sample, and underwent a breast ultrasound, in which no abnormalities were observed.
Three months later, when her son was 11 months old, she again provided milk and blood samples, and had a second ultrasound, which was again negative.
She stopped breastfeeding when the child turned one year old, at which point she could no longer contribute any more milk samples to the research. But the VHIO team continued its monitoring as a participant in the project.
Six months after the last tests, when his son was 17, he returned to Vall d'Hebron for a new blood draw and a third ultrasound. It was then that she was found to have a mass 7 millimeters in diameter in her right breast. A biopsy confirmed that it was an early cancer - technically classified as stage 1a, which is the most initial phase of tumor development. She started treatment immediately. She underwent two surgeries, then received radiotherapy treatment and did not need chemotherapy. Two and a half years later, she is fine.
Had it not been for her willingness to help research by participating in the project, Teresa would not have been diagnosed with breast cancer until months - or perhaps years - later, when the disease would have been more advanced and the prospects for healing would have been lower.
“We need to improve the early diagnosis of breast cancers that begin during pregnancy or shortly after childbirth,” states Saura. It is a type of cancer that often has a poor prognosis because it is diagnosed late and because of the changes that occur in the breast during pregnancy and breastfeeding. Furthermore, adds Saura, “cases will increase in the coming years due to the tendency to delay motherhood.
Teresa's case is one of those that the VHIO team details in the magazine Cancer Discovery, where this week they presented the results of their research. A retrospective analysis of samples she had provided when her son was eight months old, and when she was eleven, indicates that Teresa already had a mutation in the AKT1 gene detectable in her milk when she enrolled in the study.
Since this mutation was found in their tumor cells but not in healthy cells, the DNA fragments that had the mutation and were found in the milk could only have come from tumor or pre-tumor cells.
These results indicate that breast cancer could be detected earlier with a breast milk analysis than with an ultrasound or mammogram. The VHIO team has created an early diagnosis test in breast milk that analyzes the 54 genes most frequently mutated in breast cancer in women under 45 years of age. The effectiveness of the test, still experimental, will soon be evaluated in a study with 5,000 participants.
“I hope I have helped liquid biopsy in breast milk benefit many women in the future,” says Teresa. “The project is underway and I encourage other women to participate.”
