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Familial Breast Cancer: Germline mutations underlie approximately 12% of breast cancers; a hereditary aetiology is suggested in the setting of multiple affected first-degree relatives, premenopausal cancers, or family members with specific malignancies. The major susceptibility genes are tumour suppressors with roles in DNA repair, cell cycle control, and regulation of apoptosis. However, the known high-risk breast cancer genes account for just 25% of all hereditary breast cancers.
BRCA1 and BRCA2 mutations account for 80% to 90% of breast malignancies that can be attributed to single gene mutations and approximately 3% of all breast cancers. Penetrance varies from 30% to 90%, depending on the specific mutation, and these tumours tend to be poorly differentiated; most are ER-positive and HER2-negative. BRCA mutations also increase the risk of ovarian, prostatic, and pancreatic cancers. Mutations in CHEK2, TP53, PTEN, and LKB1/STK11 collectively account for fewer than 10% of hereditary breast carcinomas.
Sporadic Breast Cancer: Hormone exposure is the major risk factor for sporadic cancers; moreover, most of these tumours are ER-positive and occur in postmenopausal women. Hormone exposure increases the number of target cells by stimulating breast growth. By driving proliferation, hormones also place cells at risk for DNA mutations. Metabolites of oestrogen can also directly cause mutations or generate DNA-damaging free radicals.
CTCs are cancer cells that detach from a primary tumour and travel through the bloodstream or lymphatic system to other parts of the body.
The circulating tumour cells (CTCs) test is a non-invasive, highly accurate, and affordable blood test specifically designed for better management of cancer patients.
This advanced genomic test is designed for breast cancer of an epithelial origin and can be utilised as an ancillary tool to assess the patient’s response to treatment and the possibility of achieving a complete remission of breast cancer without subjecting the patient to invasive procedures and harmful radiation.
The circulating tumour cells (CTCs) test is conventionally named as a “liquid biopsy” and can be used at any time during a patient’s course of the disease.
The liquid biopsy for breast cancer treatment success and complete remission assessment test is appropriate for patients who have been previously diagnosed with breast cancer of an epithelial origin.
The liquid biopsy for breast cancer treatment success and complete remission assessment test uses a microfluidic platform to capture and enumerate tissue-specific circulating tumour cells (CTCs) within the bloodstream from breast cancer of epithelial origin.
Monitoring cancer patients with serial CTC testing provides the treating specialist with real-time prognostic information at any time during a patient’s course of the disease.
Changes in CTCs are predictive of disease progression as well as response to treatment among cancer patients receiving treatment for their malignancy. Serial testing for circulating tumour cells (CTCs) should be used in conjunction with other clinical methods for monitoring, such as imaging, laboratory tests, physical examination, and complete medical history to assess patient prognosis, response to treatment and remission stability throughout the course of the disease.
CTC trend is the number of circulating tumour cells, which can be detected in the bloodstream and can be measured at two months intervals to draw a graph that can illustrate the CTC trend over a period of nine months to one year.
If the number of the circulating tumour cells was increasing over time, and the CTC trend was moving upward, then this may indicate an inadequate response to the treatment protocol or an early recurrence. Conversely, if the number of circulating tumour cells was decreasing over time, and the CTC trend was moving downward, then this may indicate a favourable response to the treatment protocol. Moreover, when the CTC number remains stable at two CTCs over time, this may mean a move towards complete remission.
The CTCs trend in a cancer patient empowers the treating physician with a broad understanding of the clinical picture of an unfortunate early recurrence of the patient’s cancer, which may require early intervention in order to improve the patient’s overall prognosis.
The CTC-chip is a silicon chip the size of a standard microscope slide on which an array of 78,000 μm-sized posts are etched with a specific geometric pattern and then are coated, or “functionalised,” with antibodies to epithelial cell adhesion molecule (EpCAM). Whole blood from patients is pneumatically pushed over the surface of the CTC-chip and through the forest of micro-posts. The fluid dynamics imposed by the geometric arrangement of the posts lead the cellular component of the blood down specific streamlines that are interjected frequently by the posts, thereby maximising the interaction of the CTCs with the EpCAM-functionalized surfaces, and resulting in high-efficiency capture of the CTCs directly onto the sides of the posts. The captured cells can then be confirmed as CTCs (through staining which differentiates non-specifically bound leukocytes from epithelial CTCs), counted, and further analysed in a variety of ways including molecular characterisation. Because the CTC-chip employs whole blood without any pre-processing, and the overall stress experienced by CTCs as they travel through the chip is minimal, 98% of captured cells remain viable. The platform is flexible, in that different antibodies could potentially be used to functionalize the micro-posts, resulting in the capacity to detect a wide variety of types of CTCs.
The results of this test will be ready within 4 weeks.
It is highly recommended that the patient remains “therapy free” for at least seven days before the time of blood draw for this liquid biopsy test.
GENOMIC MEDICINE UK KNOWLEDGEBASE
For this advanced genomic test, you can book a suitable appointment for your patient to visit our premises in central London where our fully trained and friendly staff will collect the required blood sample for this genomic test at our outpatients’ clinic at GENOMIC MEDICINE UK on Harley Street. Please remember that you need to book your patient’s appointment on a Monday ONLY in order for her/his genomic test to be processed during the same week of giving the blood sample.
Please note that there are three steps up to the front door of our premises in central London, which is located on the raised ground floor of a listed building in Harley Street (W1G 9PF). A safe ramp cannot be made available due to the height of the steps. Aided entry can be arranged. Please inform a member of our team if your patient will require assistance entering the building so that sufficient support can be made available upon her/his arrival. The patient can also ask our reception team members when they arrive at our main building door, who will be more than happy to provide any assistance needed for your patient to enter and exit the building without any stress.
We have a lift operating inside the building and step-free access all around the centre.
Alternatively, if your patient resides within the M25 boundaries, a member of our team can visit her/his private address in order to draw the blood for this advanced genomic test. Simply click on the ‘BOOK YOUR APPOINTMENT’ icon below and follow the instructions. Please remember to choose ‘HOME VISITS WITHIN THE M25 BOUNDARIES’ as the type of service you are ordering. Please remember that you need to book your patient’s appointment on a MONDAY ONLY in order for the genomic test to be processed during the same week of the patient giving the blood sample. Our staff will aim to visit the patient on the MONDAY you have chosen at around 8 am. They will advise the patient they are carrying out the phlebotomy service on behalf of your practice.
Please note that the same standard price is applicable whether your patient’s blood sample is taken at our clinic in London or at her/his home (within the M25 boundaries).
This advanced genomic test is only available for Genomic Medicine UK partner medical doctors. The chargeable fee for this test is currently £1,199. If you instruct us to charge your patient directly, the patient’s price will be £1,499