|
Cutaneous Melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The tumor suppressor BAP1 cooperates with BRAFV600E to promote tumor formation in cutaneous melanoma.
|
30156010 |
2019 |
|
Cutaneous Melanoma
|
0.800 |
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 |
|
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 |
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 |
|
Cutaneous Melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The addition of Bap1 loss increased tumor proliferation and cutaneous melanoma size.
|
29490280 |
2018 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
We recommend, following the diagnosis of a MBAIT, performing a BAP1 immunohistochemistry in all other cutaneous melanocytic tumors removed previously or simultaneously and all skin melanomas.
|
28560743 |
2017 |
|
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 |
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 |
Biomarker
|
disease |
CTD_human |
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.
|
26719535 |
2016 |
|
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
In addition, we recommend that testing of BAP1 should not be conducted routinely in CM families but should be reserved for families with CM and uveal melanoma, or mesothelioma.
|
25803691 |
2015 |
|
Cutaneous Melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
This is the first estimate of the contribution of BAP1 and CDK4 to a population-based sample of CMM and supports the previously reported estimate of CDKN2A germline mutation prevalence.
|
25787093 |
2015 |
|
Cutaneous Melanoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area.
|
25231345 |
2015 |
|
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 |
Biomarker
|
disease |
BEFREE |
We then screened for germline BAP1 deleterious mutations in familial aggregations of cancers within the spectrum of the recently described BAP1-associated tumor predisposition syndrome, including uveal melanoma, malignant pleural mesothelioma, and cutaneous melanoma.
|
23684012 |
2013 |
|
Cutaneous Melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The finding expands on the growing profile of BAP1 as an important uveal and cutaneous melanoma tumor suppressor gene and implicates its involvement in the development of lung, and stomach cancer.
|
23977234 |
2013 |
|
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 |
Biomarker
|
disease |
BEFREE |
To characterize BAP1's contribution to melanoma risk, we sequenced BAP1 in a set of 100 patients with OM, including 50 metastatic OM cases and 50 matched non-metastatic OM controls, and 200 individuals with cutaneous melanoma (CM) including 7 CM patients from CM-OM families and 193 CM patients from CM-non-OM kindreds.
|
22545102 |
2012 |
|
Cutaneous Melanoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cutaneous Melanoma
|
0.800 |
GenomicAlterations
|
disease |
CGI |
|
|
|
|
Cutaneous Melanoma
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|