A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer

Biallelic inactivation of BRCA1/2 is associated with a pattern of genome-wide mutations known as Signature 3. By analyzing ~1,000 breast cancer samples, we confirmed this association and established that germline nonsense and frameshift variants in PALB2, but not ATM or CHEK2, can also give rise to...

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Veröffentlicht in:Nat Genet
Hauptverfasser: Polak, Paz, Kim, Jaegil, Braunstein, Lior Z., Tiao, Grace, Karlic, Rosa, Rosebrock, Daniel, Livitz, Dimitri, Kübler, Kirsten, Mouw, Kent W., Haradhvala, Nicholas J., Kamburov, Atanas, Maruvka, Yosef E., Leshchiner, Ignaty, Lander, Eric S., Golub, Todd, Zick, Aviad, Orthwein, Alexandre, Lawrence, Michael S., Batra, Rajbir N., Caldas, Carlos, Haber, Daniel A., Laird, Peter W., Shen, Hui, Ellisen, Leif W., D’Andrea, Alan, Chanock, Stephen J., Foulkes, William D., Getz, Gad
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7376751/
https://ncbi.nlm.nih.gov/pubmed/28825726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3934
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