Results 171 to 180 of about 13,919 (205)

BAP1 Tumor Predisposition Syndrome

Advances in Anatomic Pathology
BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome is due to germline mutation of BAP1, a tumor suppressor gene. Patients with this syndrome has an increased susceptibility to the development of uveal melanomas, cutaneous melanomas, cutaneous atypical melanocytic lesions, mesotheliomas, clear cell renal cell carcinoma, and other tumors ...
Rossana N. Lazcano Segura, Mai P. Hoang
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Morphologic and Molecular Differences of BAP1 Melanocytomas and BAP1 Inactivated Melanomas

The American Journal of Dermatopathology
Abstract: BAP1 inactivated melanocytomas are considered intermediate grade melanocytic tumors. They may have overlapping morphologic features with melanoma. Nuclear atypia, expansile growth, and mitotic activity often raise concern for the possibility of melanoma.
Pedram Gerami, Jonathan Braat, Lindsay Jeanne Holic, Nithya Sai Trichy, Shantel Olivares, Klaus J. Busam   +5 more
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Germline variants of BAP1 in the Australian population.

Journal of Clinical Oncology, 2018
e13534Background: Germline mutations in the BRCA1-associated protein (BAP1) gene are linked to a large spectrum of cancers, defined as the BAP1 tumour predisposition syndrome (BAP1-TPDS).
Walpole, Sebastian, Pritchard, Antonia, Palmer, Jane, Howlie, Madeleine, Symmons, Judith, Hamilton, Hayley, Glasson, William, Warrier, Sunil, Rolfe, Olivia, Stark, Andrew, D'Mellow, Matthew, Hayward, Nicholas   +11 more
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The diagnostic role of BAP1 in serous effusions

Human Pathology, 2018
The aim of this study was to analyze the diagnostic role of BAP1 in effusion cytology. Effusions (n = 258), consisting of 53 malignant mesotheliomas and 205 other cancers, the majority carcinomas (62 breast, 60 ovarian, 31 lung, 51 carcinomas of other origin, 1 melanoma), were analyzed for BAP1 expression using immunohistochemistry. BAP1 was lost in 46
Davidson, Ben, Tötsch, Martin, Wohlschläger, Jeremias, Hager, Thomas, Pinamonti, Maurizio   +4 more
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BAP1 Tumor Predisposition Syndrome

2021
The BAP1 tumor predisposition syndrome results from autosomal dominant haploinsufficiency of the BAP1 tumor suppressor gene. The syndrome was identified through the findings of three independent centers researching predisposition for each of their tumors of interest.
Sarah Smith, Mohamed H. Abdel-Rahman, Robert Pilarski, Frederick H. Davidorf, Colleen M. Cebulla   +4 more
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Targeting BAP1: a new paradigm for mesothelioma

Lung Cancer, 2017
New treatment strategies for malignant pleural mesothelioma (MPM) are important. BAP1 mutations are present in 47-67% of the MPM tumors, making this a good target for treatment. Multiple functions of BAP1 are investigated in the preclinical situation. Due to many functions of BAP1, the phenotypic effect of BAP1 is diverse.
L M, Schunselaar, W, Zwart, P, Baas
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A spectrum of BAP1 expression from naevus to melanoma in a patient with BAP1 tumour predisposition syndrome

Clinical and Experimental Dermatology
BAP1 tumour predisposition syndrome (BAP1-TPDS) is a rare autosomal dominant disorder characterized by germline loss-of-function mutations in the BAP1 tumour suppressor gene, and patients with BAP1-TPDS are at an increased risk of developing various tumours, including melanoma.
Yasuaki Ogura, Takatoshi Shimauchi, Tomoko Sugiyama, Yuki Sugimura, Masahiro Nakagawa, Harumo Osawa, Risa Kojima, Moriya Iwaizumi, Tetsuya Honda   +8 more
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Comparing the Prognostic Value of BAP1 Mutation Pattern, Chromosome 3 Status, and BAP1 Immunohistochemistry in Uveal Melanoma

American Journal of Surgical Pathology, 2016
Uveal melanoma (UM), a tumor of the eye, can be divided into 2 major classes correlating with patients’ prognosis. Gene expression profiles and chromosome 3 status are correlated with tumor classification and prognosis. Somatic BAP1 mutations are another feature largely restricted to metastatic UM.
Johannes A P, van de Nes, Jasmin, Nelles, Stefan, Kreis, Claudia H D, Metz, Thomas, Hager, Dietmar R, Lohmann, Michael, Zeschnigk   +6 more
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Response to ‘A spectrum of BAP1 expression from naevus to melanoma in a patient with BAP1 tumour predisposition syndrome’

Clinical and Experimental Dermatology
A recent paper described a spectrum of BAP1 expression ranging from naevus to melanoma in a patient with BAP1 tumour predisposition syndrome, who subsequently developed liver metastases and died. We present two similar sporadic cases in which patients with BAP1-inactivated melanocytomas (BIMs) developed visceral metastases. Our patients provide further
Hayley Smith, Jonathan Guckian, Andrew Muinonen-Martin, Bipin Mathew, William Merchant, Angana Mitra   +5 more
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Immunohistochemical detection of MTAP and BAP1 protein loss for mesothelioma diagnosis: Comparison with 9p21 FISH and BAP1 immunohistochemistry

Lung Cancer, 2017
Differentiating malignant pleural mesothelioma (MPM) from reactive mesothelial hyperplasia (RMH) is still challenging. Detection of homozygous deletion (HD) of 9p21 region including p16INK4A (p16) by fluorescence in situ hybridization (FISH) and immunohistochemical detection of loss of BRCA1 associated protein 1 (BAP1), are reliable markers for MPM ...
Tomoyuki, Hida, Makoto, Hamasaki, Shinji, Matsumoto, Ayuko, Sato, Tohru, Tsujimura, Kunimitsu, Kawahara, Akinori, Iwasaki, Tatsuro, Okamoto, Yoshinao, Oda, Hiroshi, Honda, Kazuki, Nabeshima   +10 more
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