Center for Molecular Biology and Genetics

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Breast Cancer in Karyo

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  • سبتمبر 22, 2013

Highlights:

BRCA1 and BRCA2 analysis by Karyo

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 by Karyo

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.

 

BE PREPARED

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

BRCA1, BRCA2, ATM, CDH1, CHEK2, STK11, TP53, PTEN, NF1, NBN, BARD1, BRIP1, PALB2, RAD50, RAD51, FGFR2, LSP1, MAP3K1, TGFB1, TOX3, MSH2, MSH6, PMS1, MLH1, HMMR, NQΟ2, PMS2, XRCC3, PPM1D

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.

 

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.