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

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

Abstract 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 mutation...

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Autores principales: Tuomo Mantere, Anna Tervasmäki, Anna Nurmi, Katrin Rapakko, Saila Kauppila, Jiangbo Tang, Johanna Schleutker, Anne Kallioniemi, Jaana M. Hartikainen, Arto Mannermaa, Pentti Nieminen, Riitta Hanhisalo, Sini Lehto, Maija Suvanto, Mervi Grip, Arja Jukkola-Vuorinen, Maria Tengström, Päivi Auvinen, Anders Kvist, Åke Borg, Carl Blomqvist, Kristiina Aittomäki, Roger A. Greenberg, Robert Winqvist, Heli Nevanlinna, Katri Pylkäs
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/b72aaf16c63e42cd88fb7a2a6ef6294a
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