Hereditary uveal melanoma: A report of a germline mutation in BAP1

被引:41
作者
Hoiom, Veronica [1 ]
Edsgard, Daniel [2 ]
Helgadottir, Hildur [1 ]
Eriksson, Hanna [1 ,3 ]
All-Ericsson, Charlotta [4 ]
Tuominen, Rainer [1 ]
Ivanova, Ivayla [1 ]
Lundeberg, Joakim [2 ]
Emanuelsson, Olof [2 ]
Hansson, Johan [1 ]
机构
[1] Karolinska Univ Hosp, Karolinska Inst, Dept Oncol & Pathol, S-17176 Stockholm, Sweden
[2] KTH Royal Inst Technol, Sch Biotechnol, Sci Life Lab, Div Gene Technol, Solna, Sweden
[3] Karolinska Univ Hosp, Karolinska Inst, Dept Med, Unit Dermatol, S-17176 Stockholm, Sweden
[4] St Eriks Eye Hosp, Dept Ocular Oncol Serv, Stockholm, Sweden
基金
瑞典研究理事会;
关键词
TUMOR-SUPPRESSOR; CHROMOSOME-3; PREDISPOSE; DELETION;
D O I
10.1002/gcc.22035
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Melanoma of the eye is a rare and distinct subtype of melanoma, which only rarely are familial. However, cases of uveal melanoma (UM) have been found in families with mixed cancer syndromes. Here, we describe a comprehensive search for inherited genetic variation in a family with multiple cases of UM but no aggregation of other cancer diagnoses. The proband is a woman diagnosed with UM at 16 years who within 6 months developed liver metastases. We also identified two older paternal relatives of the proband who had died from UM. We performed exome sequencing of germline DNA from members of the affected family. Exome-wide analysis identified a novel loss-of-function mutation in the BAP1 gene, previously suggested as a tumor suppressor. The mutation segregated with the UM phenotype in this family, and we detected a loss of the wild-type allele in the UM tumor of the proband, strongly supporting a causative association with UM. Screening of BAP1 germline mutations in families predisposed for UM may be used to identify individuals at increased risk of disease. Such individuals may then be enrolled in preventive programs and regular screenings to facilitate early detection and thereby improve prognosis. (c) 2013 Wiley Periodicals, Inc.
引用
收藏
页码:378 / 384
页数:7
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