Groundbreaking Discovery
-
The four mutations you will be tested for are significantly more common in PML patients compared to similar patients who do not develop PML.
​
-
To compare, they are meaningfully superior to BRCA1 and BRCA2 for breast cancer in both Diagnostic Yield and Odds Ratio (see chart below).
​
-
Two of the four mutations were completely absent in 700+ controls, suggesting a strong link to PML.
​
-
All four mutations occur in immune-modulating genes and are expected to impair their function.
PML Mutations More Predictive Than BRCA
Diagnostic Yield: How common the mutations were in PML patients.
​
Odds Ratio: A common statistical measure describing the association between the mutations and PML. A higher odds ratio indicates a stronger association.
Source: Kurian AW, et al. Breast and Ovarian Cancer Penetrance Estimates Derived from Germline Multiple-Gene Sequencing Results in Women. JCO Precision Oncology. 2017; 1:1-12.
Prominent Global Research Team
Peer-reviewed Publication:
To see the key journal article and authors, click here
Path to Discovery
-
PML was first hypothesized to have a genetic basis in 2015.
​
-
Over the next 5 years, in collaboration with global experts in the field, the largest collection of PML samples were assembled and state-of-the-art genetic data were generated.
​
-
By comparing the genetics of PML patients to a large population database, several mutations stood out as candidates of PML risk. The publication of these discoveries in 2020 can be found here.
​
-
In a follow-up study using over 700 matched controls - the gold standard for this analysis - four mutations demonstrated even stronger results. The follow-up study results were published in 2022 and can be found here.