cfDNA copy number instability as a diagnostic for Breast Neoplasia
Research type
Research Study
Full title
Circulating Cell-free DNA copy number instability as a diagnostic test for Breast Neoplasia (Chronix)
IRAS ID
212769
Contact name
Nigel Bundred
Contact email
Sponsor organisation
University Hospital of South Manchester NHS Foundation Trust
Duration of Study in the UK
1 years, 11 months, 28 days
Research summary
Breast cancer affects over 44,000 annually in the UK. Diagnostic difficulties can occur in early stage breast cancer and breast screening programmes. Breast screening detects radiological abnormalities which require investigation by invasive core tissue biopsies and occasionally surgical excision for diagnosis. The period awaiting diagnosis of radiological or clinical abnormalities engenders considerable patient anxiety.
A common feature of most cancers is that as cells grow uncontrollably a population of the cells die through a process known as apoptosis. The DNA from these dead and dying cells spill into the bloodstream which is called cell free DNA (cfDNA). When a person has breast cancer , specific changes to a person’s DNA sequences in the blood that are indicative of this can sometimes be detected. Recent work has suggested that these early changes to a person’s specific DNA sequences (known as copy number instability) may predate the early signs of breast cancer and could be used to aid breast screening. These DNA changes occur while a cancer is growing and spreading, so this test may identify women with these DNA changes before they are detectable as a symptom or Lump. We want to try to understand this further by seeing if we can detect DNA changes in the blood of women before they develop breast cancer, or in the earliest stages of breast cancer. The development of a blood test to measure changes to a person’s specific DNA sequences (copy number instability could potentially be used as the basis for detecting the real-time presence in blood of specific cancer DNA. The main aims of the study is to test whether the Chronix cell free DNA plasma blood test can detect abnormalities in chromosomal instabilities by measuring 1) presence of malignant disease, 2) predicating which cancer treatment agents will be successful in eliminating the cancer, and 3) subsequent recurrence and breast cancer-free survival.
Patients diagnosed with Invasive Breast Cancer T1 (size 2cm or less radiological) and DCIS (any size) will be recruited from Breast Clinics in the Northwest of England. We will also collect control samples from age-matched premenopausal women (aged 18-90 years of age), who have undergone negative triple assessment and have no cancer detected to explore the likelihood of a ‘false positive’ result arising in this group. Pre-surgery and post-surgery blood samples will be taken for patients with diagnosed breast cancer and DCIS, and one blood sample will be taken from the control group. CNI scores will be determined by analysis of these samples and compared to clinical diagnosis to determine the diagnostic sensitivity and specificity of the Chronix cfDNA plasma blood test.REC name
North West - Greater Manchester West Research Ethics Committee
REC reference
16/NW/0784
Date of REC Opinion
16 Dec 2016
REC opinion
Further Information Favourable Opinion