Genomic tests

(biomarker study)

Genomic tests

(biomarker study)

Thanks to molecular biology we can analyse what tumours have, that normal cells do not have, and take advantage of these mechanisms to design treatments that exclusively target these alterations rather than targeting healthy cells.

Genomic testing is the foundation of precision medicine. Having greater knowledge regarding the nature of different types of tumours shows us which treatments will be more specific and therefore more effective and less toxic for the patient.

What is a Biomarker Study?

Biomarker or genomic testing analyses tumour cells at a molecular level, determining the type of abnormality present in the tumour, so that personalised therapeutic decisions can be made.

Although two tumours of the same location look the same when viewed under a microscope, their genetic abnormality may be different, as a result they will not react to treatment in the same way. Identifying these alterations opens up a range of new drugs aimed at these specific mutations.

When are genomic tests indicated?

An increasing number of patients can benefit from these tests, daily advances in molecular medicine are identifying new therapeutic targets in tumours.

Cancers that would currently benefit from these tests are breast, lung, prostate, ovarian and colon cancers.

Specifically, cancer treatment should not be prescribed in patients with advanced or metastatic lung cancer until it has been confirmed whether or not the patient may benefit from personalised treatment.

New genes which appear in several types of tumours are gradually being discovered, as a result it is anticipated that in future applying this technique to virtually all types of tumour will be possible.

How are Genomic Test performed?

There are two ways to perform genomic testing:

Using a tumour sample This is carried out using a stored sample of the biopsy taken at the time of diagnosis. With a small amount of tumour material we can determine up to 400 gene mutations that the tumour may have.
Liquid biopsy: Through a blood test from the patient we can analyse the genetic material shed by the tumour into the blood. It is a slightly less sensitive technique but is widely used when the stored specimen cannot be used or the sample is insufficient

Why are they important?

Thanks to the information provided by genomic tests, we can:

Síndrome de Cáncer de Mama y Ovario Hereditarios (CMOH), por los genes (BRCA1, BRCA2, PALB2, RAD51) que suelen dar lugar a Cáncer de mama, próstata o páncreas.
Síndromes de Lynch, (MLH1, MSH2, MSH6, PMS2) que dan lugar a tumores como el colorrectal, ovario, vías urinarias, estomago e intestino delgado.
La Poliposis Adenomatosa Familia, , (APC) que origina Cáncer de Colorrectal, duodeno, desmoides, estómago, páncreas, osteomas.
Li- Fraumeni, (TP53) que origina leucemias, linfomas, sarcomas, tumores cerebrales y de mama.
Neoplasias Endocrinas Múltiples tipo 1, (MEN1) que originan adenomas paratiroides, adenomas hipófisis, tumores neuroendocrinos.
Neoplasias Endocrinas Múltiples tipo 2, (RET) que originan cáncer medular de Tiroides, feocromocitoma y adenomas paratiroides.
Von Hippel-Lindau , (VHL) que originan cáncer de riñón, hemangioblastomas, feocromocitomas.

What genomic tests are there?

Thanks to the information provided by genomic tests, we can:

Síndrome de Cáncer de Mama y Ovario Hereditarios (CMOH), por los genes (BRCA1, BRCA2, PALB2, RAD51) que suelen dar lugar a Cáncer de mama, próstata o páncreas.
Síndromes de Lynch, (MLH1, MSH2, MSH6, PMS2) que dan lugar a tumores como el colorrectal, ovario, vías urinarias, estomago e intestino delgado.
La Poliposis Adenomatosa Familia, , (APC) que origina Cáncer de Colorrectal, duodeno, desmoides, estómago, páncreas, osteomas.
Li- Fraumeni, (TP53) que origina leucemias, linfomas, sarcomas, tumores cerebrales y de mama.
Neoplasias Endocrinas Múltiples tipo 1, (MEN1) que originan adenomas paratiroides, adenomas hipófisis, tumores neuroendocrinos.
Neoplasias Endocrinas Múltiples tipo 2, (RET) que originan cáncer medular de Tiroides, feocromocitoma y adenomas paratiroides.
Von Hippel-Lindau , (VHL) que originan cáncer de riñón, hemangioblastomas, feocromocitomas.