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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Detaylı Bibliyografya
Yayımlandı:Nat Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
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Article
Online Erişim: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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