BIG-interest group
The BAP1-interest group (BIG) Consortium was established in 2017 as a medium for international collaboration on BAP1 and the BAP1-TPDS between clinicians (medical oncologists, ophthalmologists, pathologists, geneticists, dermatologists and more) and researchers.
Adipiscing elit, do eiusm.
Sed do eiusmod tempor.
We have over 70 members
and published our seminal consortium paper in 2018 in the Journal of the National Cancer Institute where we examined the clinical phenotype of BAP1-germline variant carrying families worldwide in 374 variant carriers in 181 families as well as 635 ungenotyped relatives
Meet our doctors
Knowledge = Health
We found that in null variant carriers that the penetrance of tumours was 85% and confirmeding uveal melanoma (25%), mesothelioma (20%), Cutaneous Melanoma (17%) and renal tumours (10%) as the core of BAP1-TPDS . Furthermore, we extended the tumour spectrum to include cholangiocarcinoma, meningioma and basal cell carcinoma. We also detailed how missense variants can exhibit the BAP1-TPDS phenotype, with 9/40 missense variant carrying families in our paper exhibiting a phenotype. This paper was an examinedation of the largest cohort of BAP1 familes including 75 previously unpublished families thus far and confirmed the severe risks of BAP1-TPDS due to the high penetrance of null variants and broad spectrum of disease.
Qualified Doctors
Happy Patients
We are a group of dedicated scientisits who share knowledge for every case.
Mohamed Abdel-Rahman
MD, PhD