melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
In addition, melanoma-specific network analysis followed by Kaplan-Meier analysis along with log-rank tests identified tyrosinase, hedgehog acyltransferase, BRCA1-associated protein 1 and melanocyte inducing transcription factor as potential therapeutic targets for melanoma.
|
31289481 |
2019 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
BAP1-TPDS is associated with an increased risk of developing uveal melanoma (UM), cutaneous melanoma (CM), malignant mesothelioma (MMe), renal cell carcinoma (RCC), meningioma, cholangiocarcinoma, multiple non-melanoma skin cancers, and <i>BAP1</i>-inactivated nevi.
|
31382694 |
2019 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation gene analysis identified that BRCA1‑associated protein 1 (BAP1) had a higher mutation frequency and survival analysis, and its associated genes in the BAP1‑associated PPI network, including ASXL transcriptional regulator 1 (ASXL1), proteasome 26S subunit, non‑ATPase 3 (PSMD3), proteasome 26S subunit, non ATPase 11 (PSMD11) and ubiquitin C (UBC), were statistically significantly associated with the overall survival of patients with melanoma.
|
31173190 |
2019 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Therefore, BAP1 functions as a tumor suppressor and limits tumor progression in melanoma.
|
30156010 |
2019 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
BAP1 variants were found only in MPM patients from southern Italy.
|
31382929 |
2019 |
melanoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
To the best of our knowledge, this is the first reported series of cutaneous melanomas with loss of BAP1 expression arising in patients without a family history of cancer.
|
30801340 |
2019 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified (likely) pathogenic variants in established melanoma susceptibility genes in 18 families (n = 3 BAP1, n = 15 MITF p.E318K; diagnostic yield 4.0%).
|
30414346 |
2019 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The addition of Bap1 loss increased tumor proliferation and cutaneous melanoma size.
|
29490280 |
2018 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Since then, physicians have considered this diagnosis for patients with a characteristic personal or family history of BAP1-associated tumours (mainly uveal and cutaneous melanoma, pleural/peritoneal mesothelioma, renal cell carcinoma and BAP1-deficient melanocytic lesions).
|
29413689 |
2018 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Prior studies have shown that nuclear reactivity for BRCA1-associated protein-1 (BAP1) yields prognostic information for paraffin-embedded uveal melanomas.
|
29530782 |
2018 |
melanoma
|
0.700 |
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 |
melanoma
|
0.700 |
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 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Loss of BAP1 function is implicated in the oncogenesis of several types of cancers including uveal, mucosal and some cutaneous melanomas in humans, as well as in mesothelioma.
|
30060843 |
2018 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two of these three probands carrying BAP1 loss-of-function variants also had melanomas with histopathological features suggestive of a germline BAP1 mutation.
|
28062663 |
2017 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
BAP1 is a tumor suppressor that has been associated with the outcome of melanomas and other malignancies.
|
28404968 |
2017 |
melanoma
|
0.700 |
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 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue nevus-like melanoma from conventional epidermal-derived melanomas.
|
28409567 |
2017 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
GNAQ, GNA11, EIF1AX, and BAP1 mutations were identified at varying frequencies in ciliary body and ring melanomas.
|
28700778 |
2017 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The recent technological advances have allowed the identification of new genes involved in melanoma susceptibility: breast cancer 1 (BRCA1), BRCA1-associated protein 1 (BAP1), and telomerase reverse transcriptase (TERT).Tests on these genes allow to identify a larger number of high-risk individuals with a potential of developing familial melanoma and primary multiple melanomas.
|
28121081 |
2017 |
melanoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Loss of BAP1 IHC expression was restricted to melanomas, including all metastatic cases.
|
26645730 |
2016 |
melanoma
|
0.700 |
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 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While many uveal melanomas harbor mutations in the BRCA-Associated Protein 1 (BAP1) gene, the genetics of non-BAP1 associated tumors are not completely understood.
|
27155448 |
2016 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our study suggests that CDKN2A, in addition to BAP1, could be involved in the melanoma and mesothelioma susceptibility, leading to the rare familial cancer syndromes.
|
27181379 |
2016 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, many tumors harboring BAP1 germline mutations were associated with BAP1 syndrome, including mesothelioma and ocular/cutaneous melanomas, as well as renal, breast, lung, gastric, and basal cell carcinomas.
|
26719535 |
2016 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Various features that are unique to specific disorders, such as the appearance of melanocytic BAP1-mutated atypical intradermal tumors in cases of BAP1 melanoma syndrome, should also be recognized early.
|
26892651 |
2016 |