Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members.
Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members.
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DOI：
10.1186/s12967-018-1559-7
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发表时间：
2018-07-13
影响因子：
7.4
通讯作者：
Berkelhammer C
中科院分区：
文献类型：
--
作者：
Kittaneh M;Berkelhammer C
Germline mutations in the BRCA-1 associated tumor protein 1 (BAP1) increase susceptibility to mesothelioma and other cancers. We describe a patient with a family history of peritoneal mesothelioma, who developed malignant peritoneal mesothelioma at age 45 in the absence of known asbestos exposure. These findings lead us to hypothesize that the mesothelioma occurred in the setting of germline a BAP1 mutation. This was confirmed by genetic testing. The subsequent therapeutic choices for the patient and testing of at-risk family members highlight the importance of recognizing this genetic syndrome and screening for individuals at high risk.
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影响因子：
4.5
作者：
Carbone M;Flores EG;Emi M;Johnson TA;Tsunoda T;Behner D;Hoffman H;Hesdorffer M;Nasu M;Napolitano A;Powers A;Minaai M;Baumann F;Bryant-Greenwood P;Lauk O;Kirschner MB;Weder W;Opitz I;Pass HI;Gaudino G;Pastorino S;Yang H
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Testa JR
DOI：
10.1016/j.jtho.2016.04.028
发表时间：
2016-08
期刊：
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer
影响因子：
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20.4
作者：
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Scagliotti, Giorgio V.
影响因子：
11.1
作者：
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通讯作者：
Carbone M