Abstract
Background: Germline mutations of the oncosuppressor gene breast cancer 1-associated protein 1 (BAP1) were recently related to an autosomal-dominant tumor predisposition syndrome (BAP1-TPDS), characterized by uveal melanoma, malignant mesothelioma (MM), cutaneous melanoma, and other malignancies. The demonstration that BAP1 mutations are strongly associated with MM has provided a real breakthrough in the study of genetic predisposition in MM, that may explain why only a fraction of asbestos-exposed individuals go on to develop MM. Materials and Methods: To evaluate the possible role of BAP1 mutations in the epidemiology of sporadic MM, and their relationship with asbestos exposure, we determined the prevalence of germline BAP1 mutations by the Sanger method in a group of 29 asbestos-exposed patients, 21 of which were diagnosed with MM. They were residents of Trieste, a ship-building town in Northeast Italy with a very high incidence of mesothelioma. Results: We identified non-obviously pathogenetic germline sequence variants of BAP1 in 3/29 patients and in 2/21 MM cases (10%). Conclusion: Non obviously pathogenic germline sequence variants of BAP1 were found. Nevertheless, limitations of predictive web tools allowed us to comment on some interesting peculiarities of our findings.
| Original language | English |
|---|---|
| Pages (from-to) | 3073-3083 |
| Number of pages | 11 |
| Journal | Anticancer Research |
| Volume | 37 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 1 2017 |
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Keywords
- Asbestos
- BAP1
- Germline mutations
- Mesothelioma
ASJC Scopus subject areas
- Oncology
- Cancer Research
Cite this
Puzzling results from BAP1 germline mutations analysis in a group of asbestos-exposed patients in a high-risk area of northeast Italy. / Rizzardi, Clara; Athanasakis, Emmanouil; Cammisuli, Francesca; Dal Monego, Simeone; De Spelorzi, Yeraldin Chiquinquira Castillo; Costantinides, Fulvio; Giudici, Fabiola; Pinamonti, Maurizio; Canzonieri, Vincenzo; Melato, Mauro; Pascolo, Lorella.
In: Anticancer Research, Vol. 37, No. 6, 01.06.2017, p. 3073-3083.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Puzzling results from BAP1 germline mutations analysis in a group of asbestos-exposed patients in a high-risk area of northeast Italy
AU - Rizzardi, Clara
AU - Athanasakis, Emmanouil
AU - Cammisuli, Francesca
AU - Dal Monego, Simeone
AU - De Spelorzi, Yeraldin Chiquinquira Castillo
AU - Costantinides, Fulvio
AU - Giudici, Fabiola
AU - Pinamonti, Maurizio
AU - Canzonieri, Vincenzo
AU - Melato, Mauro
AU - Pascolo, Lorella
PY - 2017/6/1
Y1 - 2017/6/1
N2 - Background: Germline mutations of the oncosuppressor gene breast cancer 1-associated protein 1 (BAP1) were recently related to an autosomal-dominant tumor predisposition syndrome (BAP1-TPDS), characterized by uveal melanoma, malignant mesothelioma (MM), cutaneous melanoma, and other malignancies. The demonstration that BAP1 mutations are strongly associated with MM has provided a real breakthrough in the study of genetic predisposition in MM, that may explain why only a fraction of asbestos-exposed individuals go on to develop MM. Materials and Methods: To evaluate the possible role of BAP1 mutations in the epidemiology of sporadic MM, and their relationship with asbestos exposure, we determined the prevalence of germline BAP1 mutations by the Sanger method in a group of 29 asbestos-exposed patients, 21 of which were diagnosed with MM. They were residents of Trieste, a ship-building town in Northeast Italy with a very high incidence of mesothelioma. Results: We identified non-obviously pathogenetic germline sequence variants of BAP1 in 3/29 patients and in 2/21 MM cases (10%). Conclusion: Non obviously pathogenic germline sequence variants of BAP1 were found. Nevertheless, limitations of predictive web tools allowed us to comment on some interesting peculiarities of our findings.
AB - Background: Germline mutations of the oncosuppressor gene breast cancer 1-associated protein 1 (BAP1) were recently related to an autosomal-dominant tumor predisposition syndrome (BAP1-TPDS), characterized by uveal melanoma, malignant mesothelioma (MM), cutaneous melanoma, and other malignancies. The demonstration that BAP1 mutations are strongly associated with MM has provided a real breakthrough in the study of genetic predisposition in MM, that may explain why only a fraction of asbestos-exposed individuals go on to develop MM. Materials and Methods: To evaluate the possible role of BAP1 mutations in the epidemiology of sporadic MM, and their relationship with asbestos exposure, we determined the prevalence of germline BAP1 mutations by the Sanger method in a group of 29 asbestos-exposed patients, 21 of which were diagnosed with MM. They were residents of Trieste, a ship-building town in Northeast Italy with a very high incidence of mesothelioma. Results: We identified non-obviously pathogenetic germline sequence variants of BAP1 in 3/29 patients and in 2/21 MM cases (10%). Conclusion: Non obviously pathogenic germline sequence variants of BAP1 were found. Nevertheless, limitations of predictive web tools allowed us to comment on some interesting peculiarities of our findings.
KW - Asbestos
KW - BAP1
KW - Germline mutations
KW - Mesothelioma
UR - http://www.scopus.com/inward/record.url?scp=85019705395&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85019705395&partnerID=8YFLogxK
U2 - 10.21873/anticanres.11663
DO - 10.21873/anticanres.11663
M3 - Article
VL - 37
SP - 3073
EP - 3083
JO - Anticancer Research
JF - Anticancer Research
SN - 0250-7005
IS - 6
ER -