The BRCA2 gene is one member of a pair of genes that changed the patent landscape several years ago, when the Supreme Court ruled that "mere" isolation was insufficient to render genomic embodiments thereof patent eligible, in Association of Molecular Pathologists v. Myriad Genetics. As understood at the time patents on these genes were granted, certain mutations occurring in human populations were correlated with a higher risk of breast and ovarian cancer. Recently, a group of researchers found this gene seems to be involved with risk of non-Hodgkins lymphoma in children and adolescents.
The paper was published in JAMA Oncology, entitled "Association of Germline BRCA2 Mutations with the Risk of Pediatric or Adolescent Non-Hodgkins Lymphoma," by a research group* from St. Jude Children's Research Hospital. Spurred on by prior studies showing BRCA2 gene mutations were the third most frequent germline mutations identified in survivors of childhood lymphomas, these researchers studied an additional 794 lymphoma survivors by whole-genome sequencing of DNA from peripheral blood and buccal or saliva samples. Both single-nucleotide variants and insertion/deletion mutants (indels) were detected. These researcher reported detection of 177 mutants predicted to result in loss of function. The total number of survivors (1380) were made up of 815 Hodgkin lymphoma patients and 565 non-Hodgkins lymphoma patients. Of these, 748 were male and disease onset (median) was 13.4 years (although the range is wide: 1.1-22.7 years); 81 percent were Caucasian.
A total of thirteen mutations were detected in this population (although not expressly disclosed in their paper), five coming from Hodgkin lymphoma survivors and the rest from non-Hodgkins lymphoma survivors (the paper notes that all of the non-Hodgkins lymphoma survivors were male). There was a statistical significance in non-Hodgkins lymphoma not found in the Hodgkin lymphoma patients. These authors note that these patients are also at risk for adult neoplastic disease previously associated with cancer risk, as well as risk of pancreatic cancer, prostate cancer, and melanoma.
One reality illustrated by this paper is that the claims that Myriad's BRCA2 gene test would inhibit research and development of medical science were flatly false. This blog has discussed how the "gene" claims themselves would not be infringed by interrogating genomic DNA (see "The ACLU, Working for the Man"), and the detection method claims in the Myriad patents were limited to detecting BRCA2 gene mutations predictive of ovarian and breast cancer. Nowhere in the Myriad patents was there disclosure that would support a claim to a method of detecting a risk for childhood or adolescent non-Hodgkins lymphoma. And nowhere was there ever a risk that the Myriad patents would have prevented or even inhibited the research disclosed in this paper or any commercial application of it. Sadly, the ACLU's false narrative (recently reiterated during Senate hearings over proposed statutory reforms directed to ameliorating the most deleterious consequences of judicial persuasion to this erroneous point of view; see "ACLU (Predictably) Opposes Patent Subject Matter Eligibility Proposal") now limits such commercial development to the very companies least in need of exclusivity and who might reasonably choose to stick to already development diagnostic methods rather than take the commercial risks associated with this new knowledge, no matter how much of an improvement it might provide. So much for the Court's decisions ensuring progress is promoted under its interpretation of the Patent Act.
* Wang, Zhaoming, PhD, Wilson, Carmen L., PhD, Armstrong, Gregory T., MD, Hudson, Melissa M., MD, Zhang, Jinghui, PhD, Nichols, Kim E., MD, Robison, Leslie L., PhD
