Article
Germline BARD1 variants predispose to mesothelioma by impairing DNA repair and calcium signaling.
Proceedings of the National Academy of Sciences of the United States of America - 16 Jul 2024
Novelli Flavia, Yoshikawa Yoshie, Vitto Veronica Angela Maria, Modesti Lorenzo, Minaai Michael, Pastorino Sandra, Emi Mitsuru, Kim Jin-Hee, Kricek Franz, Bai Fang, Onuchic José 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, Hammarström Lennart, Pan-Hammarström Qiang, Giorgi Carlotta, Pinton Paolo, Yang Haining, Carbone Michele
Abstract excerpt
We report that ~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...
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