Hereditary Cancer Predisposition Syndromes and Uveal Melanoma

Uveal melanoma (UM) is a subtype of melanoma characterized by the strong contribution of genetic rather than environmental factors in the pathogenesis of the disease, making it an ideal model disease to study the genetic basis of cancer. The long-term goal of our laboratory is to determine the genes and mechanisms responsible for hereditary cancer predisposition associated with UM. BAP1 has been identified as a candidate gene with definitive association with predisposition to UM. However, pathogenic variants in BAP1 are detected in only a small subset of UM patients even those with strong personal and family history of cancer suggesting the existence of other candidate genes. The goal of this project is to identify novel candidate genes contributing to hereditary predisposition to UM in patients with no detectable germline pathogenic variant in BAP1.]]>
Cohort of 29 uveal melanoma (UM) patients with high risk of hereditary cancer with no detectable mutation or deletion in BAP1 gene with one or more of the following criteria: Family history of UM Congenital UM Family history of ≥ primary cancers associated with BAP1 Cancer Predisposition Syndrome We also included: Family member with UM or a rare cancer (e.g. ovarian cancer) Unaffected parents of patient with congenital UM ]]>
Patients previously tested negative for germline mutation and large deletion in BAP1]]>