Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation

Ribeiro, Carla; Campelos, Sofia; Moura, Conceição Souto; Machado, José Carlos; Justino, Ana; Parente, Bárbara

doi:10.1093/annonc/mdt135

Cited by 50 publications

(43 citation statements)

References 19 publications

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“…Notably, other cancers observed in this family include MM, CM, and meningioma. Since then, numerous reports have expanded on the discovery of germline mutations in families or individuals with these and other cancers [BAP1 tumor predisposition syndrome (TPDS)] (16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29). In the OMIM (Online Mendelian Inheritance in Man) database, the disorder is now referred to as TPDS #614327 (http://www.…”

Section: Somatic and Germline Mutations Of Bap1mentioning

confidence: 99%

BAP1, a tumor suppressor gene driving malignant mesothelioma

Cheung

Testa

2017

Transl. Lung Cancer Res.

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Like cancer generally, malignant mesothelioma (MM) is a genetic disease at the cellular level. DNA copy number analysis of mesothelioma specimens has revealed a number of recurrent sites of chromosomal loss, including 3p21.1, 9p21.3, and 22q12.2. The key inactivated driver genes located at 9p21.1 and 22q12.2 were discovered two decades ago as being the tumor suppressor loci CDKN2A and NF2, respectively. Only relatively recently was the BAP1 gene determined to be the driver gene at 3p21.1 that is somatically inactivated. In 2011, we reported germline mutations in BAP1 in two families with a high incidence of mesothelioma and other cancers such as uveal melanoma (UM). As a result of a flurry of research activity over the last 5-6 years, the BAP1 gene is now firmly linked causally to a novel tumor predisposition syndrome (TPDS) characterized by increased susceptibility to mesothelioma, UM, cutaneous melanoma (CM) and benign melanocytic tumors, as well as several other cancer types. Moreover, results from recent in vivo studies with genetically engineered Bap1-mutant mouse models and new functional studies have provided intriguing biological insights regarding BAP1's role in tumorigenesis. These and other recent findings offer new possibilities for novel preventative and therapeutic strategies for MM patients.

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Section: Somatic and Germline Mutations Of Bap1mentioning

confidence: 99%

BAP1, a tumor suppressor gene driving malignant mesothelioma

Cheung

Testa

2017

Transl. Lung Cancer Res.

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“…BAP1 regulates cell cycle control, target genes transcription, and DNA damage repair [2]. The germline mutation in the BAP1 gene is associated with a hereditary tumor predisposition syndrome (BAP1-TPDS, OMIM#614327) that occurs in family members with several cancer types: MM, uveal/cutaneous melanoma, renal cell carcinoma, basal cell carcinoma and other cancers [3][4][5][6][7][8][9][10][11][12][13][14][15][16]. As of March 2016, forty-six families with multiple cases of MM have been analyzed for BAP1 germline alterations.…”

Section: Introductionmentioning

confidence: 99%

Mesothelioma families without inheritance of a BAP1 predisposing mutation

et al. 2016

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This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. (n=1), and unknown (n=1). These family units without inheritance of a BAP1 predisposing mutation expand the number of unmutated germline BAP1 families with multiple mesothelioma cases. This suggests that besides the exposure to asbestos other currently unknown genetic or epigenetic factors may be responsible for the high incidence of mesothelioma in BAP1-unmutated families.

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“…Recently, germline mutations in BRCA1-associated protein 1 (BAP1) were reported in MM patients (Testa et al, 2011). The majority of MM cases with germline BAP1 mutations arise in individuals or families with a strong history of malignancy, including uveal melanoma (Testa et al, 2011;Carbone et al, 2012;Ribeiro et al, 2013), though the original study also reported that 7.7% (2/26) of sporadic MM cases carried BAP1 germline mutations (Testa et al, 2011). Of note these two cases were reported to have no known asbestos exposure.…”

Section: Introductionmentioning

confidence: 99%

Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma

Sneddon

Leon

Dick

et al. 2015

Gene

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Malignant mesothelioma (MM) is a uniformly fatal tumour caused predominantly by exposure to asbestos. It is not known why some exposed individuals get mesothelioma and others do not. There is some epidemiological evidence of host susceptibility. BAP1 gene somatic mutations and allelic loss are common in mesothelioma and recently a BAP1 cancer syndrome was described in which affected individuals and families had an increased risk of cancer of multiple types, including MM. To determine if BAP1 mutations could underlie any of the sporadic mesothelioma cases in our cohort of patients, we performed targeted deep sequencing of the BAP1 exome on the IonTorrent Proton sequencer in 115 unrelated MM cases. No exonic germline BAP1 mutations of known functional significance were observed, further supporting the notion that sporadic germline BAP1 mutations are not relevant to the genetic susceptibility of MM.

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Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation

Abstract: To our knowledge, this is the first description of WDPM in two siblings who also presented with a germline BAP1 mutation. This article provides evidence of the wide clinical spectrum of cancer susceptibility associated with a BAP1 germline mutation.

Cited by 50 publications

References 19 publications

BAP1, a tumor suppressor gene driving malignant mesothelioma

BAP1, a tumor suppressor gene driving malignant mesothelioma

Mesothelioma families without inheritance of a BAP1 predisposing mutation

Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma

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