Article
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
Human mutation - 1 Oct 2022
Xia Bing, Biswas Kajal, Foo Tzeh K, Gomes Thiago T, Riedel-Topper Maximilian, Southon Eileen, Kang Zhihua, Huo Yanying, Reid Susan, Stauffer Stacey, Zhou Weiyin, Zhu Bin, Koka Hela, Yepes Sally, Brodie Seth A, Jones Kristine, Vogt Aurelie, Zhu Bin, Carter Brian, Freedman Neal D, Hicks Belynda, Yeager Meredith, Chanock Stephen J, Couch Fergus, Parry Dilys M, Monteiro Alvaro N, Goldstein Alisa M, Carvalho Marcelo A, Sharan Shyam K, Yang Xiaohong R
Abstract excerpt
Chordoma is a rare bone tumor with genetic risk factors largely unknown. We conducted a whole-exome sequencing (WES) analysis of germline DNA from 19 familial chordoma cases in five pedigrees and 137 sporadic chordoma patients and identified 17 rare germline variants in PALB2 and BRCA2, whose products play essential roles in homologous recombination (HR) and tumor suppression. One PALB2 variant showed disease...
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