The breastmilk of patients with breast cancer contains Tumor DNA. It’s something that just discovered a medical team, led by women, from Vall d’Hebron Institute of Oncology (VHIO), the cancer reference center of the largest public hospital in Catalonia. And now comes the second, and actually relevant, news: the breast milk liquid biopsy can predict the breast cancer risk (the most common type of tumor in women) during the postpartum.
Although the Vall d’Hebron research is still underway, this discovery has the potential to become, in the next five or six years, a more tool for early detection of breast cancer in women diagnosed during the postpartum. This group is especially important because it has a worse prognosis since they are usually diagnosed in more advanced stages of the disease.
This test can become a screening tool for breast cancer in women during the postpartum period.
“For the first time we have seen tumor DNA [conocido como ADN tumoral circulante, o ADNct] in breast milk. We have published the first results we have in the magazine ‘Cancer Discovery’. We have detected, in 13 of the 15 women studied, the same DNA from the breast tumor in breast milk”, points out Cristina Saura, head of the Breast Unit of the Vall d’Hebron Medical Oncology Service and principal investigator of the VHIO Breast Cancer Group.
Three women are at the forefront of this relevant investigation: Dr. Saura, the doctor Ana Vivancos (head of the VHIO Genomics laboratory) and doctor Carolina Ortiz, researcher at the VHIO Breast Cancer Group and signatory of the article as first author along with Saura. Vall d’Hebron search now 5,000 healthy women to check if this test is effective, although the pilot test already shows “hopeful” results.
What is liquid biopsy?
Liquid biopsy is a blood test which is used to detect genetic mutations of tumor DNA. It is used in the detection, for example, of metastatic breast cancer, but today It is not a useful tool for making early diagnoses.
However, as these researchers have observed, The same does not happen with breast milk: When performing a liquid biopsy of this infant food, they have seen that it is capable of detecting fragments of circulating tumor DNA up to 18 months before (a year and a half before) than the radiological diagnosis (that is, conventional radiology) of breast cancer.
“We have found positive tumor markers in breast milk that are negative in the blood. It is something that has never been described before”
Principal investigator of the VHIO Breast Cancer Group
“We have seen that, even if the tumors are very small, we find positive breast milk tumor markers that come out negative in the blood. It’s something that It had never been described. Until now. And it makes us think that breast milk can serve as early diagnosis tool of breast cancer in the postpartum”, Saura explains. This test would only be effective in women who have had a child and have decided do breastfeeding.
Worst prognosis
The Vall d’Hebron Breast Unit has, in turn, a specific multidisciplinary unit to treat women diagnosed with breast cancer During pregnancy and in the postpartum. Over the years, the doctors in this unit have been able to see how breast cancer patients who are diagnosed during pregnancy or, especially, during the postpartum have worse prognosis since they are usually found in more advanced stages of the illness.
“The physiological changes that occur in the breast during pregnancy and the postpartum period make tumors more difficult to detect. We have also observed that biologically postpartum tumors are more aggressive and the women stay pregnant women at ages in which still Population screening with mammography is not done. In Spain, for example, these reviews do not begin up to 50 years old”, explains Dr. Saura.
Hence the importance of early diagnosis in this group of women who suffer more aggressive breast tumors and those who are not reached, due to age, by early detection through screening.
Sample analysis
The VHIO team dedicated itself to analyzing breast milk and blood samples in 15 patients. They found tumor DNA in the breast milk of 13 of them, as well as in a blood sample from one of them. In the case of the two patients whose breast milk was not found tumor DNA, the researchers believe that it probably had not passed enough time so that the tumor DNA would have been released into the milk, since the milk samples had been collected in the first hours of breastfeeding.
Postpartum tumors are more aggressive and women become pregnant at ages when they are not yet screened with mammograms.
According to the doctors, this study by Vall d’Hebron published in ‘Cancer Discovery’ demonstrates, for the first time, that the breast milk of patients with breast cancer contains Sufficient tumor DNA to detect it through liquid biopsy and that this tumor DNA can be detected even before conventional imaging tests.
Gene panel
Furthermore, to give their discovery a utility, the researchers created (within the VHIO genomic laboratory) a gene panel that includes the 54 most frequent mutations of breast cancer in young women, that is, less than 45 years old. The panel has a sensitivity of more than 70%, which means that, of the patient samples analyzed with this panel, 7 out of 10 cases are detected with a 100% specificity.
Universal sample collection
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“This panel could serve us in the future as method for early diagnosis of breast cancer in the postpartum”, Saura explains. “In the same way that the heel test is performed on all newborns, one could consider collecting a sample of breast milk to all women after delivery to carry out a ‘screening’ [cribado] of breast cancer,” adds this doctor.
For the third phase of the study, Vall d’Hebron is recruiting 5,000 women who are over 40 years old and have genetic mutations
Vall d’Hebron has already started the third phase of this study, for which you are seeking funding and are recruiting 5,000 healthy women to perform this test. Look for women with some risk: be at least 40 years old (cancer increases with age) and that they are carriers of genetic mutations. “We will take a milk test, we will do an ultrasound – since it is the test that best sees the breast during breastfeeding – and a blood sample. And then we will do follow-up”, Saura account. In “five or six years” they could have the final results and breast milk could be incorporated as a new liquid biopsy source for early detection of breast cancer in the postpartum
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