IndraLab

Statements

BAP1 activates Syndrome. 21 / 21
| 21
reach
"Pathogenic germline variants in the BRCA1-associated protein 1 (BAP1) gene cause a dominantly inherited tumor predisposition syndrome, BAP1-TPDS, in which MM is the second most common associated cancer."
35114507
reach
"BAP1-Tumor Predisposition Syndrome (TPDS) is caused by germline variants in BAP1 and predisposes to solid tumors."
38824259
reach
"Pathogenic germline variants in the BRCA1-Associated Protein 1 (BAP1) tumor suppressor gene cause a rare, life-threatening tumor predisposition syndrome (BAP1-TPDS, OMIM 614327) also known as BAP1 cancer syndrome as the majority of carriers develop malignancy [1, 2]."
37956408
reach
"Furthermore, BAP1 germline mutations cause a tumor predisposition syndrome inherited in an autosomal dominant pattern, which confers a higher risk for developing a spectrum of benign and malignant tumors , including pancreatic cancer ."
32541668
reach
"Altogether, these results define a clinical syndrome caused by rare germline missense BAP1 variants that alter chromatin remodeling through abnormal histone ubiquitination and lead to transcriptional dysregulation of developmental genes."
35051358
reach
"The presence of multiple BAP1-negative melanocytic neoplasms is a hallmark of familial cancer susceptibility syndrome caused by germline mutations in BAP1."
30801340
reach
"Additionally, melanoma risk is elevated in mixed cancer syndromes caused by mutations in PTEN, BRCA1, BRCA2, RB1, BAP1 and TP53 [56]."
38473375
reach
"(3)In previous studies, we found that heterozygous germline mutations in the BAP1 gene cause the BAP1 Cancer Syndrome, characterized by a high incidence of mesothelioma (4–9)."
38990952
reach
"BAP1 tumor predisposition syndrome is caused by pathogenic germline variants in the BAP1 tumor suppressor gene and characterized by a predisposition to various tumors including meningioma."
35969220
reach
"Melanoma predisposition syndromes caused by pathogenic variants in POT1 and BAP1 are more recently described, and both are associated with Spitzoid tumors."
35836394
reach
"Familial cancer predisposition syndrome caused by germline mutations in BAP1 is inherited in an autosomal dominant pattern."
30801340
reach
"Germline mutations of the deubiquitinase BRCA1-associated protein 1 (BAP1) lead to the "BAP1 cancer syndrome" characterized by development of cancers."
39984455
reach
"Germline loss-of-function variants in the BRCA1-associated protein 1 gene (BAP1) cause an autosomal dominant tumor predisposition syndrome, with most such variants generating frameshift or truncating alleles, yet >1,000 missense variants have been clinically observed to date."
38969833
reach
"Screening of genealogies from affected families led to the discovery of an inherited cancer syndrome caused by BAP1 germline mutations [68,69]."
30060501
reach
"It is very intriguing to ask whether BAP1 expression mediated by G-quadruplex formation contributes to this syndrome."
29787736
reach
"A rare familial syndrome at risk for ccRCC is caused by germline mutations in BAP1 ."
33144689
reach
"Germline pathogenic mutations in the tumor suppressor gene BRCA1-associated protein-1 (BAP1) lead to BAP1 tumor predisposition syndrome (BAP1-TPDS) [6], which is characterized by high susceptibility to several tumor types, mainly melanoma (especially uveal), mesothelioma, renal cell carcinoma, and basal cell carcinoma (Table 2)."
38673021
reach
"BAP1 germline mutations underlie a rare, autosomal dominant tumour predisposition syndrome that is most commonly associated with (in order of decreasing frequency) atypical Spitz tumours, uveal melano[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
33662283
reach
"Germline mutations in BAP1 are known to cause a tumor predisposition syndrome, which is accompanied by the risk of early onset of several malignancies, such as (uveal) melanoma, renal cancer, and PeM."
37453150
reach
"BIMTs can occur as a sporadic lesion or, less commonly, in the setting of an autosomal dominant cancer susceptibility syndrome caused by a BAP1 germline inactivating mutation."
34857909
reach
"Histone deacetylase inhibitors may reverse this phenomenon 8. In addition, a comprehensive understanding of pathway changes caused by BAP1 mutations may also be useful in filtering potential therapeutic targets.Previous studies revealed that in ccRCC patients, BAP1 has a high mutation rate in somatic cells 7, 10 and BAP1 germline mutations will lead to a hereditary renal carcinoma syndrome."
30519310