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Germline mutation in the TP53 gene in uveal melanoma

Germline mutation in the TP53 gene in uveal melanoma

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5955881

Germline mutation in the TP53 gene in uveal melanoma

About this item

Full title

Germline mutation in the TP53 gene in uveal melanoma

Publisher

London: Nature Publishing Group UK

Journal title

Scientific reports, 2018-05, Vol.8 (1), p.7618-7, Article 7618

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

We performed comprehensive molecular analysis of five cases of metastasizing uveal malignant melanoma (UM) (fresh-frozen samples) with an NGS panel of 73 genes. A likely pathogenic germline
TP53
mutation c.760A > G (p.I254V) was found in two tumor samples and matched nontumor tissue. In three cases, pathogenic
BAP1
mutation was detected...

Alternative Titles

Full title

Germline mutation in the TP53 gene in uveal melanoma

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5955881

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5955881

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-018-26040-0

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