Germline mutations in BAP1 predispose to melanocytic tumors
Nature Genetics, ISSN: 1061-4036, Vol: 43, Issue: 10, Page: 1018-1022
2011
- 599Citations
- 299Captures
- 1Mentions
Metric Options: Counts1 Year3 YearSelecting the 1-year or 3-year option will change the metrics count to percentiles, illustrating how an article or review compares to other articles or reviews within the selected time period in the same journal. Selecting the 1-year option compares the metrics against other articles/reviews that were also published in the same calendar year. Selecting the 3-year option compares the metrics against other articles/reviews that were also published in the same calendar year plus the two years prior.
Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Metrics Details
- Citations599
- Citation Indexes596
- 596
- CrossRef562
- Policy Citations3
- 3
- Captures299
- Readers299
- 299
- Mentions1
- References1
- 1
Article Description
Common acquired melanocytic nevi are benign neoplasms that are composed of small, uniform melanocytes and are typically present as flat or slightly elevated pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple, skin-colored, elevated melanocytic tumors. In contrast to common acquired nevi, the melanocytic neoplasms in affected family members ranged histopathologically from epithelioid nevi to atypical melanocytic proliferations that showed overlapping features with melanoma. Some affected individuals developed uveal or cutaneous melanomas. Segregating with this phenotype, we found inactivating germline mutations of BAP1, which encodes a ubiquitin carboxy-terminal hydrolase. The majority of melanocytic neoplasms lost the remaining wild-type allele of BAP1 by various somatic alterations. In addition, we found BAP1 mutations in a subset of sporadic melanocytic neoplasms showing histological similarities to the familial tumors. These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm. © 2011 Nature America, Inc. All rights reserved.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=80053386896&origin=inward; http://dx.doi.org/10.1038/ng.910; http://www.ncbi.nlm.nih.gov/pubmed/21874003; https://facultyopinions.com/prime/13372987#eval14743101; http://dx.doi.org/10.3410/f.13372987.14743101; https://www.nature.com/articles/ng.910; https://facultyopinions.com/prime/13372987#eval14801055; http://dx.doi.org/10.3410/f.13372987.14801055; https://dx.doi.org/10.1038/ng.910; http://f1000.com/13372987#eval14801055; http://f1000.com/13372987#eval14743101; http://europepmc.org/abstract/med/21874003; http://europepmc.org/articles/PMC3328403
Faculty Opinions Ltd
Provide Feedback
Have ideas for a new metric? Would you like to see something else here?Let us know