Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members

被引：23

作者：

Kittaneh, Muaiad ^{[1
]}

Berkelhammer, Charles ^{[2
]}

机构：

[1] Loyola Univ, 15300 West Ave, Orland Pk, IL 60462 USA

[2] Univ Illinois, 9921 Southwest Highway, Oak Lawn, IL 60453 USA

来源：

JOURNAL OF TRANSLATIONAL MEDICINE | 2018年 / 16卷

关键词：

BAP1; Germline; Familial; Mesothelioma; Melanoma; Screening; Early detection; MALIGNANT MESOTHELIOMA; ASBESTOS EXPOSURE; TUMOR-SUPPRESSOR; PREDISPOSE; RISK;

D O I：

10.1186/s12967-018-1559-7

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

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.

引用

页数：7

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