CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.
Cancer Lett
; 378(2): 120-30, 2016 08 10.
Article
en En
| MEDLINE
| ID: mdl-27181379
ABSTRACT
BAP1 germline mutations predispose to a cancer predisposition syndrome that includes mesothelioma, cutaneous melanoma, uveal melanoma and other cancers. This co-occurrence suggests that these tumors share a common carcinogenic pathway. To evaluate this hypothesis, we studied 40 Italian families with mesothelioma and/or melanoma. The probands were sequenced for BAP1 and for the most common melanoma predisposition genes (i.e. CDKN2A, CDK4, TERT, MITF and POT1) to investigate if these genes may also confer susceptibility to mesothelioma. In two out of six families with both mesothelioma and melanoma we identified either a germline nonsense mutation (c.1153C > T, p.Arg385*) in BAP1 or a recurrent pathogenic germline mutation (c.301G > T, p.Gly101Trp) in CDKN2A. Our study suggests that CDKN2A, in addition to BAP1, could be involved in the melanoma and mesothelioma susceptibility, leading to the rare familial cancer syndromes. It also suggests that these tumors share key steps that drive carcinogenesis and that other genes may be involved in inherited predisposition to malignant mesothelioma and melanoma.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Cutáneas
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Biomarcadores de Tumor
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Mutación de Línea Germinal
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Codón sin Sentido
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Proteínas Supresoras de Tumor
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Ubiquitina Tiolesterasa
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Inhibidor p18 de las Quinasas Dependientes de la Ciclina
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Melanoma
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Mesotelioma
Tipo de estudio:
Clinical_trials
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Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Adolescent
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Adult
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Aged
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Female
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Humans
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Male
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Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Cancer Lett
Año:
2016
Tipo del documento:
Article
País de afiliación:
Italia