Hereditary cancer study of 27 gens
What is it?
The hereditary cancer panel is a study that analyzes 27 genes that increase the susceptibility to hereditary cancer. This susceptibility is transmitted among family members according to different inheritance patterns.
The greater and better knowledge of the genetic and molecular bases of cancer, as well as new and increasingly sensitive imaging and laboratory techniques, allow preventive medicine, capable of identifying individuals at high risk of developing certain types of tumors and of improving the long-term prognosis.
Technology
The technology allows the detection of point mutations, insertions, deletions and copy number variations (CNVs). The selection of genes is made by our highly qualified staff and based on the recommendations of scientific societies, as well as what is described in the literature.
The analysis is possible thanks to the massive sequencing technology (NGS) that allows obtaining results of large genomic regions with high sensitivity and specificity.
Our technology can be adapted to the needs of the specialist, being able to add or modify the genes that are considered most appropriate at any given time.
Attention to families
The identification of families and individuals with possible hereditary cancers is important, as their members could benefit from effective measures not only in early detection, but also in tumor prevention.
The care of families with hereditary cancer requires genetic counseling specialists who will perform individual risk assessment for each family member, and appropriate genetic screening.
Process
Extraction of 5 mL of EDTA blood.
Receipt and analysis of the sample in our laboratory.
Delivery of the report within 45 working days.
Your doctor will explain the results to you.
Indications
It is recommended for women and men with a personal or family history of cancer.
Through genetic counseling, patients receive information about:
- The risk of presenting a neoplasm.
- The probability of transmitting the predisposition to cancer to their offspring.
- Prognosis for early detection and the most appropriate therapeutic approach.
Panel of 27 genes
The panel developed by Cerba includes a total of 27 genes with implications in the development of hereditary breast and ovarian cancer, but also prostate, pancreatic and melanoma.
Panel with the genes studied
BRCA 1 | MLH1 | PTEN |
---|---|---|
BRCA 2 | MRE11A | RAD50 |
APC | MSH2 | RAD51C |
ATM | MSH6 | RAD51D |
BARD1 | MUTYH | STK11 |
BRIP1 | NBN | TP53 |
CDH1 | PALB2 | SMAD4 |
CHEK2 | CDK4 | |
EPCAM | PMS2 | |
BMPR1A | CDKN2A |
What does the report include?
List of pathogenic or probably pathogenic variants and variants of uncertain significance detected in each individual according to the criteria established by the American College of Medical Genetics (ACMG).
Description of the variant detected and its association with cancer.
Inheritance pattern.
Results
We prepare a report with various sections detailing the reasons for the study, the results obtained, as well as their interpretation and finally detailing the methodology applied to perform the test.
A bibliography is also included with the bibliographic references of the programs used, as well as in the case of pathogenic results/VOUS, the references that support the interpretations of the results obtained in case they are described.
A genetic counseling service by Cerba Internacional specialists is included, as well as recommendations based on the results obtained by our team of professionals.