RDx testing can determine inherited gene mutations that influence breast cancer, including BRCA1 and BRCA2
, as well as TP53, PTEN, STK11, CDH1, PALB2, CHEK2, ATM, NBN, BARD1 and BRIP1.
All coding exons and adjacent intronic splice junction regions of BRCA1 and BRCA2
genes were screened for mutations in fragments between 197 to 823 bp length for Sanger Sequencing and about 450 bp length for Next Generation Sequencing (NGS) using a Multiplicome BRCA MASTR Dx Kit, which has a CE-IVD certificate in the MiSeq Illimuna Platform.
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2
mutations detected in case series unselected for family history: a combined analysis of 22 studies.
Although NGS is an efficient method for BRCA1 and BRCA2
mutation screening, many other genes need to be detected in HBOC cases.
In some cases genetic mutations in BRCA1 and BRCA2
are inherited, which may generate uncontrolled proliferation of a single cell and contribute to the development of cancer (7).
The study discovered that, although the mutations had not been inherited, many breast cancer patients had mutational signatures that were identical to those with faulty BRCA1 and BRCA2
All individuals gave written informed consent for BRCA1 and BRCA2
As a result, there is a pressing need to find new approaches and strategies; of these, targeted therapies hold particular promise, and BRCA2
is one such therapy that has great potential.
To help clarify the issue, investigators at nine comprehensive cancer centers enrolled 627 women with BRCA1 mutations, 453 with BRCA2
mutations, and 3 with mutations in both genes who underwent RRSO without either prior or concomitant hysterectomy.
The NEXTflex BRCA1 and BRCA2
Amplicon Panels are complete kits that include all components necessary for rapidly generating ready-to-sequence libraries, including primer pairs, library prep reagents, size selection beads, and indexed barcodes.
BRCA1 and BRCA2
are the major genes associated with hereditary breast cancer susceptibility [3, 4].