Tests for Breast Cancer

  • Sep 22, 2013
Εξετάσεις για τον καρκίνο του μαστού

Breast cancer is a type of cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas, while those originating from lobules are known as lobular carcinomas. Breast cancer occurs in humans and other mammals. While the overwhelming majority of human cases are in women, breast cancer can also occur in men.

The balance of benefits versus harms of breast cancer screening is controversial. The characteristics of the cancer determine the treatment, which may include surgery, medications (hormonal therapy and chemotherapy), radiation and/or immunotherapy. Surgery provides the single largest benefit, and to increase the likelihood of remission (no further sign of the cancer), several chemotherapy regimens are commonly given in addition. Radiation is used after breast-conserving surgery and substantially improves local relapse rates and in many circumstances also overall survival.

Worldwide, breast cancer accounts for 22.9% of all cancers (excluding non-melanoma skin cancers) in women. In 2008, breast cancer caused 458,503 deaths worldwide (13.7% of cancer deaths in women). Breast cancer is more than 100 times more common in women than in men, although men tend to have poorer outcomes due to delays in diagnosis.

Prognosis and survival rates for breast cancer vary greatly depending on the cancer type, stage, treatment, and geographical location of the patient. Survival rates in the Western world are high;[6] for example, more than 8 out of 10 women (85%) in England diagnosed with breast cancer survive for at least 5 years. In developing countries, however, survival rates are much poorer.

Some genetic susceptibility may play a minor role in most cases. Overall, however, genetics is believed to be the primary cause of 20–35% of all cases. In those with zero, one or two affected relatives, the risk of breast cancer before the age of 80 is 7.8%, 13.3%, and 21.1% with a subsequent mortality from the disease of 2.3%, 4.2%, and 7.6% respectively. In those with a first degree relative with the disease the risk of breast cancer between the age of 40 and 50 is double that of the general population.[48]

In 5-10% of cases, genetics plays a more significant role by causing a hereditary breast–ovarian cancer syndrome. This includes those who carry the BRCA1 and BRCA2 gene mutation. These mutations account for up to 90% of the total genetic influence with a risk of breast cancer of 60–80% in those affected. Other significant mutations include: p53 (Li–Fraumeni syndrome), PTEN (Cowden syndrome), and STK11 (Peutz–Jeghers syndrome), CHEK2, ATM, BRIP1, and PALB2. In 2012, researchers said that there are four genetically distinct types of the breast cancer and that in each type, hallmark genetic changes lead to many cancers.

In our lab, we perform a series of genetic tests concerning sporadic, hereditary and familial breast cancer. More specifically our test panel includes:

Full BRCA1 and BRCA2 analysis

BRCA1 and BRCA2 are analyzed using CE-IVD kits in our Next Generation Sequencing platform. Full coverage can be obtained by ordering addition large rearrangement analysis of the two genes by means of MLPA analysis.


Human Breast Cancer Panel

19 genes associated with human breast cancer are analyzed using Next Generation Sequencing. The probes are designed to enrich for all the coding exons and splicing sites of these 19 genes. Copy number variation analysis is also included.

The analyzed genes are: AR, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DIRAS3, HER2, NBN, PALB2, PTEN, RAD50, RAD51, STK11, TP53, CASP8 και TGFB1.


Exome Analysis - Breast Cancer associated

Hereditary Breast and Ovarian Cancer predominately caused by mutations in genes BRCA1&2 accounts for 5-10% of cases. There is an additional 20-25% with family history present but negative for BRCA1&2 mutations termed Familial Breast Cancer. Modern science has identified several genes implicated in the hereditary form of the disease, each with moderate or low penetrance but with cumulative impact1. Exome analysis with Next Generation Sequencing provides a powerful tool to investigate all implicated genes2. KARYO is the first organization in Greece to publish breast cancer exome analysis3.



Scientific progress never ceases. New genes implicated in hereditary breast cancer have been recently announced4. Perform EXOME ANALYSIS once, and have all information in hand!

Genes analyzed


1. Francisco Javier Gracia-Aznarez et al. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLOS ONE, 8 (2): e55681, 2013.

2. Snape K. et al. Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer. Breast Cancer Res Treat, doi 10.1007/s10549-012-2057-x, 2012.

3. Kosmidis E.K. et al., Exome analysis in breast cancer patients with family history tested negative for BRCA1&2 deleterious mutations. 19th Hellenic Society of Medical Oncology Conference, Athens, April 2013.

4. Michailidou K. et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013 Apr;45(4):353-61.


MammaPrint - Agendia

MammaPrint Provides Individualized Metastasis Risk Assessment for Your Breast Cancer Patients
MammaPrint is the first FDA-cleared IVDMIA breast cancer recurrence assay. The unique 70-gene signature of MammaPrint provides you with the unprecedented ability to identify which early-stage breast cancer patients are at risk of distant recurrence following surgery, independent of Estrogen Receptor status and any prior treatment.


BluePrint - Agendia

Agendia developed BluePrint, a multi-gene profile, for the classification of breast cancer into Basal-type, Luminal-type and ERBB2-type (HER2/neu positive) molecular subclasses. Following risk assessment with a MammaPrint 'low risk' or 'high risk' result, additional stratification into a molecular subtype provides the next level of genomic breast cancer analysis.


HER2 analysis with F.I.S.H.

FISH testing is done on breast cancer tissue removed during biopsy to see if the cells have extra copies of the HER2 gene. The more copies of the HER2 gene that are present, the more HER2 receptors the cells have. These HER2 receptors receive signals that stimulate the growth of breast cancer cells.

Generally, the FISH test is not as widely available as another method of HER2 testing, called ImmunoHistoChemistry, or IHC. However, FISH is considered more accurate. In many cases, a lab will do the IHC test first, ordering FISH only if the IHC results don’t clearly show whether the cells are HER2-positive or negative.

Karyo has a fully equipped cytogenetics department with certified personnel and a long history in performing HER2 analysis with F.I.S.H. We use only CE-IVD kits.