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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Publicat a:Sci Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
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Article
Accés en línia: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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