To enhance the interpretation of HRD biomarkers, our current approach has been slightly improved.
While the HRD Genomic Scar (GS) itself will remain unchanged, our primary goal is to
Incorporate inconclusive result. Inconclusive result is given when the patient has a proficient GS associated with the detection of a genetic variant in BRCA1 or BRCA2 with a complex biological interpretation.
Address sample with low amount of tumoral cells associated with a proficient GS and the detection of a deleterious or predicted deleterious BRCA1/2 variant.
This approach will be based on three steps:
First, we check the status of BRCA1/2
Then, we analyze the Genomic Scar as it is calculated now
Finally, we provide the conclusion of the HRD test which is the combination of the BRCA1/2 status and the Genomic Scar
Based on this, we could have as final result of the HRD test (1 type of final result negative, 3 positives and 1 inconclusive)
HRD negative :
We did not demonstrate the presence of a deleterious (or suspected deleterious) BRCA1/2 variant. This category includes variants for which published data demonstrate a loss of function of the corresponding proteins as well as the large rearrangements. We observed a negative genomic scar for this patient.
HRD positive :
1. We demonstrate the presence of a deleterious (or suspected deleterious) BRCA1/2 variant. This category includes variants for which published data demonstrate a loss of function of the corresponding proteins as well as the large rearrangements. We observed a positive genomic scar for this patient.
2. We demonstrate the presence of a deleterious (or suspected deleterious) BRCA1/2 variant. This category includes variants for which published data demonstrate a loss of function of the corresponding proteins as well as the large rearrangements. We observed a negative genomic scar for this patient.
3. We did not demonstrate the presence of a deleterious (or suspected deleterious) BRCA1/2 variant. This category includes variants for which published data demonstrate a loss of function of the corresponding proteins as well as the large rearrangements. We observed a positive genomic scar for this patient.
HRD inconclusive:
We demonstrate the presence of BRCA1/2 variant with conflicting interpretations, therefore we can't take a final decision on the biological impact for this variant. We observed a negative Genomic Scar for this patient.