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Germinal DNA, determinant in diagnosis and treatment

Over the past year, there have been various studies that demonstrate that those cancer patients that have mutations in the genes BRCA in their DNA germline (present in all cells of the body) responds best to a type of treatments known as inhibitors of the enzyme poly ADP ribose polymerase (PARP).

Especially cancer of the pancreas, prostate and, above all, of the ovary and triple-negative breast, closely related to mutations of the BRCA1 and BRCA2 genes could benefit from this therapeutic approach. This has been shown, for example, in a recent report by Dr. Kathleen Moore, published by ‘The Lancet Oncology’.

The study was conducted in women with ovarian cancer who had received multiple chemotherapy treatments. Also, research conducted in coalition by scientists from the Institute of Cancer Research (ICR) in London and the Gustave Roussy Institute in France suggests that they could be combined with immunotherapy treatments to enhance their effectiveness.

It is crucial for the patient to detect BRCA1 / 2 mutations as soon as possible to receive these PARP inhibitors to overcome their disease. For this reason, OncoDNA, a company specialized in precision medicine for the treatment and diagnosis of cancer, has expanded its genomic test.

Specifically, the test OncoSTRAT&GO now includes the profile of mutations of the germ line in the BRCA1 and BRCA2 genes, as well as similar alterations in other genes, such as the so-called phenotype BRCAness, which can also be attacked by PARP inhibitors, as reported by sources of the company that now offers a more complete analysis.

The team of I+D+i of OncoDNA has been incorporated into this test a specificity panel contains the study of several genes involved in the DNA repair of cancer cells, reviewed 32 genes, selected for their clinical impact and therapeutic. It is recommended in cases of triple-negative, ovarian, prostate, and pancreatic breast cancer.

It is a question of whether the BRCAness phenotype is present and whether PARP inhibitors will be effective. “It analyzes these genes in a more sensitive way than other techniques, allowing to detect all kinds of genetic alterations, such as point mutations or large deletions or duplications of the gene,” explains Adriana Terrádez, director of OncoDNA in Spain and Portugal.

This molecular profile, which the Belgian company with offices in Valencia has been using for years, has been improving over time. OncoSTRAT&GO has become the only solution theranostic market that combines the analysis in biopsy solid and liquid of solid tumors in stage IV. OncoSTRAT&GO has an integrated approach: it uses a 313 gene panel in solid biopsy.

It also includes a tumor protein test (IHQ) and a blood or liquid biopsy test. The blood profile may focus on circulating tumor DNA (40 genes to decipher tumor heterogeneity) or blood cell DNA: 32 genes to study specific genetic alterations.

These germline alterations are related to the BRCAness phenotype, which is difficult to detect in solid samples. OncoSTRAT & GO establishes a complete genetic profile of the tumor, which can be used to identify sensitivity or resistance to targeted treatments, chemotherapies and immunotherapies, whether approved or in trial stages. It can also be customized for tumors of unknown primary origin.

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