Evidence map›Paper›PMID 26774355›Full record

ArticleCancer genetics2016

A novel BAP1 mutation is associated with melanocytic neoplasms and thyroid cancer.

Kevin J McDonnell, Gregory T Gallanis, Kathleen A Heller, Marilena Melas, Gregory E Idos, Julie O Culver, Sue-Ellen Martin, David H Peng, Stephen B Gruber

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancer genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.6field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

19 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
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  5. Is Melanoma Progression Affected by Thyroid Diseases?International journal of molecular sciences · 2022
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Kevin J McDonnellUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Gregory T GallanisUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Kathleen A HellerUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Marilena MelasUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Gregory E IdosUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Julie O CulverUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Sue-Ellen MartinUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA; Keck School of Medicine, Department of Pathology, University of Southern California, Los Angeles, CA, USA.
David H PengUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA; Department of Dermatology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Stephen B GruberUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA. Electronic address: sgruber@med.usc.edu.
University of Southern California · US

Funding

USC/NORRIS COMPREHENSIVE CANCER CENTER (CORE) SUPPORTP30CA014089 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Fumito Ito · 1985 to 2026
$181.4M
NCI NIH HHS CA014089NCI NIH HHS P30 CA014089
6 · The paper itself

Abstract

Germline mutations in the tumor suppressor gene, BRCA-1 associated protein (BAP1), underlie a tumor predisposition syndrome characterized by increased risk for numerous cancers including uveal melanoma, melanocytic tumors and mesothelioma, among others. In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T, which produces a truncated BAP1 protein product and segregates with cancer. Family members with this mutation demonstrated a primary clinical phenotype of autosomal dominant, early-onset melanocytic neoplasms with immunohistochemistry (IHC) of these tumors demonstrating lack of BAP1 protein expression. In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. IHC analysis of the thyroid cancer, as well, demonstrated loss of BAP1 protein expression. Our investigation identifies a new BAP1 mutation, further highlights the relevance of BAP1 as a clinically important tumor suppressor gene, and broadens the range of cancers associated with BAP1 inactivation. Further study will be required to understand the full scope of BAP1-associated neoplastic disease.

Indexed as

Germ-Line MutationFemaleHumansMiddle AgedNevus, PigmentedSkin NeoplasmsThyroid NeoplasmsTumor Suppressor ProteinsUbiquitin ThiolesteraseBAP1 protein, humanTumor Suppressor ProteinsUbiquitin ThiolesteraseBAP1Cancer geneticsmelanomathyroid cancertumor predisposition syndrome

Identifiers

PMID26774355
PMCPMC6447287
OpenAlexW2199503203

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.