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.

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Receipt and analysis of the sample in our laboratory.

Delivery of the report within 45 working days.

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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.

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Frequently asked questions

The genetic mutations that cause many of the known hereditary cancer syndromes have been identified, and genetic testing can confirm whether the condition is actually the result of an inherited syndrome.

Inherited genetic mutations can increase a person’s risk of developing cancer through a variety of mechanisms, depending on the function of the gene. Mutations in genes that control cell growth and the repair of damaged DNA are particularly likely to be associated with an increased risk of cancer.

They are genetic variants that occur in our genetic material either by inheritance or acquired throughout life as a result of exposure to carcinogenic substances, immunosuppression, infections by oncogenic microorganisms, etc.

Genetic mutations can have harmful, beneficial, neutral (no effect) or uncertain effects on health. Mutations that are harmful can increase a person’s chances, or risk, of developing a disease such as cancer.

POSITIVE RESULT: A “positive test result” means that a specific genetic alteration (or mutation) associated with a hereditary cancer syndrome was found, which can have the following meanings:

  • Confirm the diagnosis of a hereditary cancer syndrome.
  • To indicate an increased risk of developing certain cancers in the future.
  • To show that someone carries a particular genetic change that does not increase their own risk of cancer, but may increase the risk in their children if they also inherit an altered copy from their other parent (i.e., if the child inherits two copies of the abnormal disease gene, one from their mother and one from their father).
  • Suggest a need for repeat or further complementary or confirmatory testing.
  • Provide important information that can help other family members make decisions about their own health care.

NEGATIVE RESULT: A “negative test result” means that the test found no specific alterations in the genes studied.This result is most useful when working with a family in which the specific genetic alteration causing the disease is already known to be present.

In this case, a negative result may demonstrate:

  • That the family member tested has not inherited the mutation that is present in their family, therefore, this person does not have hereditary cancer syndrome.
  • Not having an increased genetic risk of developing the familial cancer.
  • Not being a carrier of a mutation that increases the risk of cancer.
  • A negative result does not mean that there is no risk of cancer, but that the risk is probably the same as the risk of cancer in the general population.

No. Even if a cancer-predisposing mutation is present in a family, it does not necessarily mean that everyone who inherits the mutation will develop cancer. Several factors influence the outcome in a given person with the mutation.

One factor is the inheritance pattern of the cancer syndrome. To understand how hereditary cancer syndromes are inherited, it is useful to keep in mind that each person has two copies of most genes, with one copy inherited from each parent. Most mutations involved in hereditary cancer syndromes are inherited in one of two main patterns: autosomal dominant and autosomal recessive.