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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429682/
https://www.ncbi.nlm.nih.gov/pubmed/28386063
http://dx.doi.org/10.1038/s41598-017-00766-9

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