BREASTON, BREASTON-Extended and OVARIGEN
Familial and hereditary breast and ovarian cancer tests available at PentaCore Laboratory!
One of the leading causes of death in all countries is the malignant tumor of the breast. It affects every eighth women. The modern therapeutic options do increase the survival of breast cancer, however, the significance of prevention and early diagnosis cannot be overemphasized. Advanced breast or ovarian cancer dramatically decreases the chance of survival compared to a tumor discovered early.
As for prevention, it is really important to identify those persons who are currently not ill but have a family record of multiple breast and ovarian cancer cases. These persons may carry genetic variations that could cause these diseases. Currently, 20-30% of all the diagnosed breast cancer cases could be the consequence of hereditary genetic variations (mutations). In the background of these cases, there are mutations with big penetration capacity, most commonly mutations associated with the BRCA1 and BRCA2 genes. In the presence of these mutations, the probability of breast and ovarian cancer increases significantly, it is about 80% at the age of 70. Cases with diagnosed genetic background require different therapy compared to sporadic cases, thus it is really important to reveal the underlying genomic variations. It is important to note, that in familial breast cancer, male members of the family are also susceptible to the hereditary disease!
If the family record supports the possibility of hereditary cancer syndrome, and no detectable mutation can be seen in BRCA1 and BRCA2 genes, further search for mutations with high and medium penetration capacity is required. These mutations are collected from and validated by professional literature. The genes analyzed include: ATM, BARD1, BRIP1, CDH1, CHEK2, DIRAS3, ERBB2, NBN, PALB2, RAD50, RAD51, STK11, TP53, KRAS.
It is important to emphasize that at the PentaCore Laboratory located at the Semmelweis University, Budapest, Hungary, we do not examine short sequences of the genes carrying mutations but perform a complete scan (sequencing) of the DNA’s coding area in each gene!
How is the test carried out? To carry out the test, we need DNA. To acquire the sufficient amount of DNA, we only need a routine blood sample. Nevertheless, the test can be performed on formalin-fixed paraffin-embedded tissue samples, as well.
The extracted DNA will be digested with a mixture of restriction enzymes. After the digestion, the DNA sequences of interest will be labeled with specific oligonucleotides. The completed DNA library will be bound to sequencing pearls using emulsion PCR and will be multiplied monoclonally. The base sequence of the tested DNA will be determined using semi-conductor sequencing.
The test includes hundredfold scanning of up to millions of nucleotides. However, thanks to the highly sophisticated methods developed by PentaCore Lab, there is no need to wait for months; the results are back in a few days!
BREASTON, OVARIGEN: BRCA1 and BRCA2 genes
BREASTON-Extended: BRCA1, BRCA2, ATM, BARD1, BRIP1, CDH1, CHEK2, DIRAS3, ERBB2, NBN, PALB2, RAD50, RAD51, STK11, TP53, KRAS genes.
On the background and availability of this and other genetic tests provided by our laboratory, please, contact us.