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

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. T...

Full description

Saved in:
Bibliographic Details
Published in:Journal of translational medicine 2018-07, Vol.16 (1), p.194-194, Article 194
Main Authors: Kittaneh, Muaiad, Berkelhammer, Charles
Format: Article
Language:English
Subjects:
Abdomen
Age
Apoptosis
Asbestos
BAP1
Cancer
Deoxyribonucleic acid
Diagnosis
DNA
DNA repair
Familial
Family medical history
Female
Gastric cancer
Gene mutation
Genetic aspects
Genetic testing
Germ-Line Mutation - genetics
Germline
Humans
Laparoscopy
Lung Neoplasms - diagnostic imaging
Lung Neoplasms - genetics
Lung Neoplasms - pathology
Male
Medical prognosis
Melanoma
Mesothelioma
Mesothelioma - diagnostic imaging
Mesothelioma - genetics
Mesothelioma - pathology
Mesothelioma, Malignant
Middle Aged
Mutation
Patients
Pedigree
Peritoneal Neoplasms - diagnostic imaging
Peritoneal Neoplasms - genetics
Peritoneal Neoplasms - pathology
Peritoneum
Proteins
Review
Screening
Tomography
Tumor Suppressor Proteins - genetics
Ubiquitin Thiolesterase - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1479-5876
1479-5876
DOI:10.1186/s12967-018-1559-7