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Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Published: March 12, 2021

Primary Outcome Measures

  1. Prevalence of germline BAP1 variants in the unselected general population of cancer patients [ Time Frame: 5 years ]
  2. Clinical phenotypes (this includes premalignant lesions, tumor type and age of onset) in at risk blood-line family members of the patients [ Time Frame: 5 years ]

Secondary Outcome Measures

  1. Environmental risk factors modifying cancer risk [ Time Frame: 10 years ]
  2. Genetic risk factors modifying risk of cancer [ Time Frame: 10 years ]
  3. Disease outcome (response to treatment, prognosis including prognostic markers) [ Time Frame: 10 years ]
  4. Tumor pathology and genomics (including tumor grade, stage, somatic genomic alterations) [ Time Frame: 10 years ]
  5. Disease penetrance [ Time Frame: 10 years ]

Inclusion Criteria

Patients who meet any of the following criteria:

  1. Personal history of one cancer reported in BAP1 cancer predisposition syndrome and family history of at least two 1st or 2nd degree relatives with cancer reported in hereditary BAP1 cancer predisposition syndrome such as UM, CM, mesothelioma, RCC, cholangiocarcinoma, meningioma and hepatocellular carcinoma.
  2. Any patient with personal history of at least 2 cancers reported in hereditary BAP1 cancer predisposition syndrome.
  3. Any subject (affected or unaffected) with a documented BAP1 pathogenic/ likely pathogenic variant.
  4. Any patient with a cancer reported in BAP1 and a germline variant of uncertain significance.
  5. At risk relatives of a patient with documented BAP1 mutation.

Exclusion Criteria

  • Study material including consent forms are currently only available in English so non-English speaking subjects are excluding
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