A simple breast milk sample could one day reveal whether a new mother has breast cancer, catching the disease months earlier than current methods allow. Breast cancer diagnosed during or shortly after pregnancy—known as pregnancy-associated breast cancer—is rare but aggressive, with only 52% of patients surviving five years compared to 80% for other young women with breast cancer. The poor prognosis stems partly from delayed detection: standard screening like mammograms is less effective in lactating breasts, and high-risk women must stop breastfeeding to resume MRI scans. Researchers recently discovered that tumour DNA fragments appear in breast milk, but no one has yet worked out how to reliably collect, process, and analyse those fragments. This feasibility study will develop a standardised workflow for extracting cell-free tumour DNA from breast milk, test whether the DNA’s structure and quantity vary with time of day, and assess whether women find the approach acceptable. The team will collect milk and blood samples from 20 lactating women at general-population risk, along with questionnaires and interviews, and follow them for two years. If successful, the work could lead to a non-invasive, repeatable screening tool that detects breast cancer earlier in new mothers without requiring them to stop breastfeeding.
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Background: Risk of breast cancer (BC) rises post-pregnancy, and decreases over the next decade. Diagnosis from pregnancy to 12 months postpartum is defined as pregnancy-associated breast cancer (PABC); this occurs in approximately 1/3,000 overall pregnancies, but is 60x more common in very high-risk women. Risk factors include increased age at first pregnancy, BRCA1/2, younger age at menarche and higher BMI. Given the upward trend of these factors globally PABC will likely increase. Prognosis is poor; 5-year survival of PABC patients is 52% compared with 80% of age-matched BC patients, likely related to higher metastatic disease incidence and delayed diagnosis. Early detection in very high-risk women is difficult, and relies on early cessation of breastfeeding (which reduces BC risk and may be mother's preference), to allow breast MRI screening to resume. Detection of cell-free tumour DNA (cfDNA) in breast milk (BM) from BC patients was recently first reported however the structure and composition of the DNA remains to be explored; the optimization of a pre-analytical processing workflow was also not investigated. Aims: •Create optimal collection and processing workflow of BM as a liquid biopsy •Assess cfDNA detection in BM •Investigate effect of circadian rhythm on BM cfDNA analysis •Assess BM screening acceptability Objectives: •Collect demographic/clinical data, BM and blood samples from 20 lactating women of general-population risk. •Conduct cancer-related worry questionnaires and structured interviews. •Analysis of BM will include cell-free DNA, mutant allele fraction, methylation studies, cell-free RNA and sequencing where appropriate and assessment by time collected. •Follow-up for two years.
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