Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

Several known breast cancer susceptibility genes encode proteins involved in DNA damage response (DDR) and are characterized by rare loss-of-function mutations. However, these explain less than half of the familial cases. To identify novel susceptibility factors, 39 rare truncating mutations, identi...

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Publicado no:Sci Rep
Main Authors: Mantere, Tuomo, Tervasmäki, Anna, Nurmi, Anna, Rapakko, Katrin, Kauppila, Saila, Tang, Jiangbo, Schleutker, Johanna, Kallioniemi, Anne, Hartikainen, Jaana M., Mannermaa, Arto, Nieminen, Pentti, Hanhisalo, Riitta, Lehto, Sini, Suvanto, Maija, Grip, Mervi, Jukkola-Vuorinen, Arja, Tengström, Maria, Auvinen, Päivi, Kvist, Anders, Borg, Åke, Blomqvist, Carl, Aittomäki, Kristiina, Greenberg, Roger A., Winqvist, Robert, Nevanlinna, Heli, Pylkäs, Katri
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5429682/
https://ncbi.nlm.nih.gov/pubmed/28386063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-00766-9
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