Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with germline BAP1 mutations exhibited increased frequency of family history of cancer (100% vs 65.9%, P = .06), particularly cutaneous melanoma (62.5% vs 9.9%, P < .001) and ocular melanoma (25.0% vs 1.9%, P = .01).
|
25974357 |
2015 |
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most prevalent malignancies among BAP1 mutation carriers were uveal melanoma (n = 60 [28%]), mesothelioma (n = 48 [22%]), cutaneous melanoma (n = 38 [18%]), and renal cell carcinoma (n = 20 [9%]).
|
28793149 |
2017 |
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma.
|
22889334 |
2012 |
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
There were nonsignificant trends toward different carrier frequencies between PD cases and controls, under different inheritance models, in the following CMM risk genes: BAP1, DCC, ERBB4, KIT, MAPK2, MITF, PTEN, and TP53.
|
27640074 |
2016 |
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal cell carcinoma.
|
30477459 |
2018 |
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Both UM and CM have been shown to harbor germline mutation of BAP1.
|
24697775 |
2014 |
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327) includes uveal melanoma (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), and mesothelioma.
|
24243779 |
2014 |
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BAP-1 are associated with a cancer syndrome that involves uveal and cutaneous melanoma, malignant mesothelioma, atypical Spitz tumors, and clear-cell renal cell carcinoma.
|
29981911 |
2018 |
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline BAP1 alleles defined as loss-of-function or predicted to be deleterious/damaging are rare in cutaneous melanoma.
|
28062663 |
2017 |
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline BAP1 mutations cause a novel cancer syndrome characterised by early onset of multiple atypical Spitz tumours and increased risk of uveal and cutaneous melanoma, mesothelioma, renal cell carcinoma and various other malignancies.
|
27235536 |
2016 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BRCA1 associated protein 1 (BAP1) are associated with unique disease profiles in mesothelioma, atypical spitz nevi, and uveal melanoma, but the patient characteristics of an unselected population of BAP1 carriers identified by an ascertainment prevalence study are unknown.
|
31323388 |
2019 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Both UM and CM have been shown to harbor germline mutation of BAP1.
|
24697775 |
2014 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Screening of BAP1 germline mutations in families predisposed for UM may be used to identify individuals at increased risk of disease.
|
23341325 |
2013 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All BAP1 mutations identified in blood samples were also present in the matched UM.
|
30477459 |
2018 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Population-based analysis of BAP1 germline variations in patients with uveal melanoma.
|
31058963 |
2019 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Uveal melanoma is a life-threatening disease for which data on germline predisposition are essentially limited to mutations in the BAP1 gene.
|
31626034 |
2020 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identified a BAP1 splice mutation located at c.581-2A>G, which leads to a premature truncation of BAP1 in an individual with uveal melanoma.
|
23977234 |
2013 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hence, epigenetic inhibitors are being investigated in BAP1 mutant uveal melanoma.
|
29206651 |
2018 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Current evidence demonstrates that germline BAP1 mutations predispose families to uveal melanoma, renal cell carcinoma, malignant mesothelioma, cutaneous melanoma, and possibly to a range of other cancers as well.
|
26096145 |
2016 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A targeted next-generation sequencing approach was applied, covering the mutational hotspot regions of nine genes known to be mutated in conjunctival and uveal melanoma (BRAF, NRAS, KIT, GNAQ, GNA11, CYSLTR2, SF3B1, EIF1AX, and BAP1).
|
28700778 |
2017 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma.
|
24970262 |
2014 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatic BAP1 mutations are seen in cutaneous melanocytic tumours (epithelioid atypical Spitz tumours and melanoma), uveal melanoma, mesothelioma, clear cell renal cell carcinoma, and other tumours.
|
23277170 |
2013 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A cancer surveillance program for individuals who carry germline BAP1 mutations may help identify tumors such as uveal melanoma, cutaneous melanoma, and renal cell carcinoma at early and treatable stages.
|
28482042 |
2017 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Uveal melanoma (UM), a rare cancer of the eye, is characterized by initiating mutations in the genes G-protein subunit alpha Q (<i>GNAQ</i>), G-protein subunit alpha 11 (<i>GNA11</i>), cysteinyl leukotriene receptor 2 (<i>CYSLTR2</i>), and phospholipase C beta 4 (<i>PLCB4</i>) and by metastasis-promoting mutations in the genes splicing factor 3B1 (<i>SF3B1</i>), serine and arginine rich splicing factor 2 (SRSF2), and BRCA1-associated protein 1 (<i>BAP1</i>).
|
31671564 |
2019 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BAP1 mutations are frequently found in UM and are associated with a poor prognosis.
|
25582751 |
2015 |