作者：Novelli, Flavia; Yoshikawa, Yoshie; Vitto, Veronica Angela Maria; Modesti, Lorenzo; Minaai, Michael; Pastorino, Sandra; Emi, Mitsuru; Kim, Jin-Hee; Kricek, Franz; Bai, Fang; Onuchic, Jose N.; Bononi, Angela; Suarez, Joelle S.; Tanji, Mika; Favaron, Cristina; Zolondick, Alicia A.; Xu, Ronghui; Takanishi, Yasutaka; Wang, Zhanwei; Sakamoto, Greg; Gaudino, Giovanni; Grzymski, Joseph; Grosso, Federica; Schrump, David S.; Pass, Harvey I.; Atanesyan, Lilit; Smout, Jan; Savola, Suvi; Sarin, Kavita Y.; Abolhassani, Hassan; Hammarstrom, Lennart; Pan-Hammarstrom, Qiang; Giorgi, Carlotta; Pinton, Paolo; Yang, Haining; Carbone, Michele
作者单位：University of Hawaii System; Cancer Research Center of Hawaii; Hyogo Medical University; University of Ferrara; ShanghaiTech University; Rice University; University of Hawaii System; University of Hawaii Manoa; Nevada System of Higher Education (NSHE); Desert Research Institute NSHE; National Institutes of Health (NIH) - USA; NIH National Cancer Institute (NCI); New York University; Stanford University; Karolinska Institutet
摘要：We report that similar to 1.8% of all mesothelioma patients and 4.9% of those younger than 55, carry rare germline variants of the BRCA1 associated RING domain 1 ( BARD1) gene that were predicted to be damaging by computational analyses. We conducted functional assays, essential for accurate interpretation of missense variants, in primary fibroblasts that we established in tissue culture from a patient carrying the heterozygous BARD1 V523A mutation. We found that these cells had genomic instab...
