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Detailed genetic analysis on hereditary cancer

2024-02-16 14:43:13Biznes SHKRUAR NGA REDAKSIA VOX

Detailed genetic analysis on hereditary cancer

WHAT IS PRESENTIA?

PreSENTIA is a genetic test on hereditary cancer.

This test identifies genetic changes that are involved in inherited cancer syndromes and increase the risk of developing it in the future.

CLINICAL SIGNIFICANCE

• Identification of genetic changes that increase the risk of inherited cancer syndromes and its development from the early stages.

• Taking preventive measures to minimize the risk of developing cancer in the future.

• Taking the necessary steps for the best clinical management of the patient (screening tests at key time intervals are recommended).

• Identification of family members who are also carriers of genetic mutations for cancer predisposition.

WHO IS PRESENTIA FOR?

Family history, ethnicity, and physical findings associated with the cancer should always be considered.

PreSENTIA is recommended for individuals:

• with personal or family history of hereditary cancer syndrome.

• those diagnosed with cancer at a young age (age at which cancer is not normally diagnosed).

• with the presence of some types of primary tumors.

• who are currently diagnosed with cancer or are suspected of carrying a germline mutation predisposing to cancer.

• with the presence of rare types of cancer.

• with the presence of a specific unusual cancer (eg breast cancer in men).

• with the suspicion of the presence of a cancer syndrome.

The above information is courtesy of professional institutions such as: National Cancer Institute, American College of Obstetricians and Gynecologists (ACOG) and American Society of Clinical Oncology (ASCO).

PRESENTIA TESTS:

GENETIC CHANGES (MUTATIONS).

Genetic mutations are changes that occur in the DNA sequence, which can serve as a trigger for tumor development. These changes, which are tested for by PreSENTIA, can be inherited in families, increasing the risk of a tumor forming. Knowing a patient's inherited genetic mutations helps us select the best strategy for reducing the risk of developing cancer.

PreSENTIA offers 19 panels for testing the presence of genetic mutations in genes of interest. The genetic changes that are tested are: single nucleotide changes (SNV), insertions or deletions (INDEL), changes that lead to amplification or deletion of DNA fragments (CNA). 

PreSENTIA panels detect 24 of the most common inherited cancer syndromes, including Lynch syndrome, Li-Fraumeni syndrome, Familial adenomatous polyposis, Peutz-Jeghers syndrome, FaconI anemia syndrome, etc.

Panels for testing genes of interest

Pan-Cancer

Breast & Gynecology

Breast / based on Gynecological Guidelines

High risk bay

BRCA1 / BRCA2

Colorectal

Colorectal with high risk

Colorectal Non-polyposis

Colorectal polyposis syndrome

Gastric

Myelodysplastic syndrome / Leukemia

prostate

Pancreatic

Renal

Skin (XP related)

Familial Melanoma

Paraganglioma / Pheochromocytoma

Parathyroid

Thyroid

BENEFITS OF PRESENTIA

VALUABLE

Identifies genetic mutations associated with cancer.

SAFE

Taking the sample for testing is done non-invasively.

TRUSTED

Consolidated technology with reliable results.

WITH FULL COVERAGE

Tests for the full range of exonic changes.

WHAT DOES PRESENTIA'S RESULT EXPLAIN?

The response after testing with PreSENTIA includes a detailed report describing the genetic changes identified and their interpretation in detail.

Early information on the predisposition to the development of cancer enables the selection of the best option of therapy and clinical measures for the patient and his family members.

In case the patient is diagnosed with cancer, PreSENTIA informs us if the genetic changes that caused it are inherited.

GENETIC RESULT

DETECTION OF THE MOST CLINICALLY SIGNIFICANT VARIANT

Pathogenic or potentially pathogenic variants are reported based on the guidelines of the American College of Medical Genetics and Genome classification guidelines.

DETECTION OF CLINICALLY NOT SIGNIFICANT VARIANT

No syndrome-causing variants have been identified in the genes tested.

VARIANTS WITH UNDETERMINED SIGNIFICANCE

A genetic change is identified which is not determined to be related to cancer or not.

WHAT CAN BE DONE AFTER TESTING PRESENTIA?

Inform the patient about the results of PreSENTIA and recommend genetic counseling.

Recommend other screening tests for early detection of cancer, at important time intervals.

Recommend clinical measures, if possible.

Immediate testing of family members who may be at risk of inheriting it is recommended.

HOW IS THE PRESENTIA RECOMMENDATION ADMINISTERED?

The most appropriate PreSENTIA panel is recommended based on the patient's case.

Taking the buccal swab from the patient is performed.

The sample is sent to Medicover Genetics for analysis.

The sample is analyzed at Medicover Genetics laboratories.

Results will be ready within 2-3 weeks after sample submission.


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