A woman from Barcelona, mother of a three-year-old and ten-month-old boy, was able to be diagnosed early and successfully treated for breast cancer after signing up as a volunteer in a research project to detect the disease in breast milk.
"It was thanks to an article you published in La Vanguardia", recalls oncologist Cristina Saura, director of the project, at the Vall d'Hebron Institute of Oncology (VHIO).
Teresa, the patient, had read the article published by Ana Macpherson 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. "At no point did I think that it could benefit me personally," remembers 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 to it."
She was admitted to the study because she had had her child at the age of 47 and, by age, was part of the group considered to be at risk of developing breast cancer during pregnancy or in the following months.
In accordance with the research protocol, Teresa then provided a milk sample from each breast, 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 was one year old, after which time she could no longer provide milk samples to the research. But the VHIO team tracked him down as a participant in the project.
Six months after the last tests, when his son was 17, he returned to the Vall d'Hebron hospital for another blood draw and a third ultrasound. That's when they found a mass seven millimeters in diameter in her right breast. A biopsy confirmed that it was an incipient cancer – technically classified as stage 1a, which is the earliest stage of tumor development. He started treatment right away. He underwent two surgeries, then received radiation therapy and did not need chemotherapy. Two and a half years later, he is perfectly fine.
If it had not been for her willingness to help research by participating in the project, Teresa would not have been diagnosed with breast cancer until a few months – or perhaps years – later, when the disease would have been more advanced and the prospects of healing would have been lower.
"We need to improve the early diagnosis of breast cancers that begin during pregnancy or shortly after childbirth," declares 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 lactation. In addition, adds Saura, "cases will increase in the coming years due to the tendency to delay motherhood.
Teresa's case is one of those detailed by the VHIO team in Cancer Discovery magazine, where this week it presented the results of the research. A retrospective analysis of the samples she had provided when her son was 8 months old, and when he was 11, 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 in the tumor cells, but not in the healthy cells, the DNA fragments that had the mutation and were found in the milk could only come from tumor or pre-tumor cells.
These results indicate that breast cancer could be detected earlier with an analysis of breast milk than with an ultrasound or a mammogram. The VHIO team has created an early diagnostic 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 that I have helped to make the liquid biopsy in breast milk benefit many women in the future", declares Teresa. "The project is underway and I encourage other women to participate."
