Germline BAP1-positive patients: the dilemmas of cancer surveillance and a proposed interdisciplinary consensus monitoring strategy. (March 2018)

• Record Type: Journal Article
• Authors: Star, Phoebe; Goodwin, Annabel; Kapoor, Rony; Conway, R. Max; Long, Georgina V.; Scolyer, Richard A.; Guitera, Pascale
• Is Part Of: European journal of cancer. Volume 92(2018)
• Page Start: 48
• Page End: 53
• Publication Date: 2018-03
• Subjects: BAP1 mutation -- Cancer surveillance -- Screening; Cancer -- Periodicals; Neoplasms -- Periodicals; Cancer -- Périodiques; Cancer; Tumors; Electronic journals; Periodicals; Electronic journals; 616.994
• DOI: 10.1016/j.ejca.2017.12.022
• Languages: English
• ISSNs: 0959-8049

Abstract

Abstract: The germline BAP1 (BRCA1-associated protein-1) mutation and associated cancer pre-disposition syndrome was first described in 2011. Since then, physicians have considered this diagnosis for patients with a characteristic personal or family history of BAP1-associated tumours (mainly uveal and cutaneous melanoma, pleural/peritoneal mesothelioma, renal cell carcinoma and BAP1-deficient melanocytic lesions). However, a positive germline BAP1 mutation detection creates significant uncertainty in terms of appropriate cancer surveillance. A number of groups have proposed surveillance plans but important management dilemmas remain unresolved. The lifetime risk of developing cancer is not known and it is not clear if surveillance would lead to detecting cancer at an earlier stage or change survival outcomes. A consensus monitoring strategy was initially proposed at the Melanoma Institute Australia Melanoma Multidisciplinary Team meeting and later discussed with specialists in the field of cancer genetics, pathology, radiology, medical oncology, ophthalmology and dermatology. The objectives were to facilitate early diagnosis, incorporating where possible, clinically based and low/non-ionising radiation imaging modalities, applying the principles of a good screening test and a multidisciplinary focus. Highlights: A cancer surveillance plan is proposed for germline BAP1 mutation cohorts in the context of discussion about the dilemmas associated with screening this group. Detailed descriptions of proposed surveillance for the five main tumour types, including radiological discussion, expanding on previous more generalised recommendations. Broadest interdisciplinary expert collaboration to date, including clinical cancer genetics, oncology, pathology, radiology, ophthalmology and dermatology.