Unknown

Dataset Information

0

Frequent mutation of BAP1 in metastasizing uveal melanomas.


ABSTRACT: Metastasis is a defining feature of malignant tumors and is the most common cause of cancer-related death, yet the genetics of metastasis are poorly understood. We used exome capture coupled with massively parallel sequencing to search for metastasis-related mutations in highly metastatic uveal melanomas of the eye. Inactivating somatic mutations were identified in the gene encoding BRCA1-associated protein 1 (BAP1) on chromosome 3p21.1 in 26 of 31 (84%) metastasizing tumors, including 15 mutations causing premature protein termination and 5 affecting its ubiquitin carboxyl-terminal hydrolase domain. One tumor harbored a frameshift mutation that was germline in origin, thus representing a susceptibility allele. These findings implicate loss of BAP1 in uveal melanoma metastasis and suggest that the BAP1 pathway may be a valuable therapeutic target.

SUBMITTER: Harbour JW 

PROVIDER: S-EPMC3087380 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature

altmetric image

Publications


Metastasis is a defining feature of malignant tumors and is the most common cause of cancer-related death, yet the genetics of metastasis are poorly understood. We used exome capture coupled with massively parallel sequencing to search for metastasis-related mutations in highly metastatic uveal melanomas of the eye. Inactivating somatic mutations were identified in the gene encoding BRCA1-associated protein 1 (BAP1) on chromosome 3p21.1 in 26 of 31 (84%) metastasizing tumors, including 15 mutati  ...[more]

Similar Datasets

| S-EPMC6744995 | biostudies-literature
| S-EPMC4540182 | biostudies-literature
| S-EPMC4422481 | biostudies-literature
| S-EPMC8508767 | biostudies-literature
| S-EPMC3825099 | biostudies-literature
| S-EPMC3747051 | biostudies-literature
| S-EPMC8345662 | biostudies-literature
2020-04-04 | GSE130357 | GEO
| S-EPMC5831190 | biostudies-literature
| S-EPMC7453745 | biostudies-literature