Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma

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 produc...

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Veröffentlicht in:	Human mutation 2022-10, Vol.43 (10), p.1396-1407
Hauptverfasser:	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, 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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Bone cancer Bone tumors BRCA2 BRCA2 protein chordoma Embryos Etiology genetic susceptibility Homologous recombination Mutation Notochord PALB2 Poly(ADP-ribose) polymerase rare germline variants Risk factors Tumor suppression
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