TY - JOUR
T1 - Uveal Melanoma in BAP1 Tumor Predisposition Syndrome
T2 - Estimation of Risk
AU - Singh, Nakul
AU - Singh, Rahul
AU - Bowen, Randy Chris
AU - Abdel-Rahman, Mohamed H.
AU - Singh, Arun D.
N1 - Publisher Copyright:
© 2020 Elsevier Inc.
PY - 2021/4
Y1 - 2021/4
N2 - Purpose: To estimate point prevalence of uveal melanoma in the patients with germline BAP1 pathogenic variant. Design: Cohort study with risk assessment using Bayesian analysis. Methods: The point prevalence estimate was obtained by Bayes's rule of reverse conditional probabilities. The probability of uveal melanoma given that BAP1 mutation exists was derived from the prevalence of uveal melanoma, prevalence of germline BAP1 pathogenic variants, and the probability of germline BAP1 pathogenic variant given that uveal melanoma is present. Confidence intervals (CIs) for each variable were calculated as the mean of Bernoulli random variables and for the risk estimate, by the delta method. The age at diagnosis and the gender of the uveal melanoma patients with BAP1 germline pathogenic variants obtained from previous publications or from authors' unpublished cohort was compared with those in the Surveillance, Epidemiology, and End Results (SEER) database. Results: The point prevalence of uveal melanoma in patients with the germline BAP1 pathogenic variants in the US population was estimated to be 2.8% (95% CI, 0.88%-4.81%). In the SEER database, the median age at diagnosis of uveal melanomas was 63 (range 3-99 years) with a male-to-female ratio of 1.01:1. In comparison, uveal melanoma cases with BAP1 germline pathogenic variants from the US population (n = 27) had a median age at diagnosis of 50.5 years (range 16-71). Conclusions: Quantification of the risk of developing uveal melanoma can enhance counseling regarding surveillance in patients with germline BAP1 pathogenic variant.
AB - Purpose: To estimate point prevalence of uveal melanoma in the patients with germline BAP1 pathogenic variant. Design: Cohort study with risk assessment using Bayesian analysis. Methods: The point prevalence estimate was obtained by Bayes's rule of reverse conditional probabilities. The probability of uveal melanoma given that BAP1 mutation exists was derived from the prevalence of uveal melanoma, prevalence of germline BAP1 pathogenic variants, and the probability of germline BAP1 pathogenic variant given that uveal melanoma is present. Confidence intervals (CIs) for each variable were calculated as the mean of Bernoulli random variables and for the risk estimate, by the delta method. The age at diagnosis and the gender of the uveal melanoma patients with BAP1 germline pathogenic variants obtained from previous publications or from authors' unpublished cohort was compared with those in the Surveillance, Epidemiology, and End Results (SEER) database. Results: The point prevalence of uveal melanoma in patients with the germline BAP1 pathogenic variants in the US population was estimated to be 2.8% (95% CI, 0.88%-4.81%). In the SEER database, the median age at diagnosis of uveal melanomas was 63 (range 3-99 years) with a male-to-female ratio of 1.01:1. In comparison, uveal melanoma cases with BAP1 germline pathogenic variants from the US population (n = 27) had a median age at diagnosis of 50.5 years (range 16-71). Conclusions: Quantification of the risk of developing uveal melanoma can enhance counseling regarding surveillance in patients with germline BAP1 pathogenic variant.
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U2 - 10.1016/j.ajo.2020.12.005
DO - 10.1016/j.ajo.2020.12.005
M3 - Article
C2 - 33316260
AN - SCOPUS:85100260218
SN - 0002-9394
VL - 224
SP - 172
EP - 177
JO - American journal of ophthalmology
JF - American journal of ophthalmology
ER -