Detection of genetic changes in breast milk for cancer prediction
Research type
Research Study
Full title
Prediction of future cancer risk using ultra-high resolution sequencing to detect somatic mutations in breast milk
IRAS ID
320609
Contact name
Moritz Przybilla
Contact email
Sponsor organisation
The Wellcome Sanger Institute
Duration of Study in the UK
2 years, 2 months, 30 days
Research summary
Although postpartum breast cancers (PPBCs), defined as cancers arising up to 10 years after pregnancy, comprise 35% to 55% of breast cancer cases in young women (≤ 45 years) they are not routinely covered by conventional screening. Individuals with PPBCs show worse overall survival as well as high metastatic potential. Cancer has been shown to develop from a single cell which initially accumulates somatic mutations, resulting in aberrant proliferation and eventually tumour formation. In breast cancer, the malignant clone arises within a wider spectrum of abnormal cells, the so-called ‘field effect’, a concept known as the ‘sick lobe hypothesis’.
We hypothesise that the field effect of normal breast can be measured and quantified on an individual-to-individual basis using DNA present in normal breast milk collected from healthy women post pregnancy. We will work with collaborators who have collections of whole breast milk from women of differing ethic and genetic backgrounds, whom have either intermediate breast cancer risk, previous history of breast biopsies, genetic predisposition (BRCA1/2) or cancer in order to investigate our hypothesis.
We will establish the feasibility of breast milk as a liquid biopsy for the assessment of changes acquired in the DNA of the female breast. The insights from this assessment will subsequently be utilised to determine the predictiveness of these changes for tumour formation and progression in the future, and ultimately its potential for screening and risk stratification.
We anticipate that the insights from this work will change our understanding of cancer development and the factors that lead to variation in DNA. Ideally, we envision breast milk to become a routinely collected clinical sample, which could be utilised for the assessment of the burden of somatic mutations an individual has acquired in their life and potentially determine the risk of cancer occurrence.
REC name
Wales REC 5
REC reference
22/WA/0306
Date of REC Opinion
4 Oct 2022
REC opinion
Favourable Opinion