Article
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.
Scientific reports - 6 Apr 2017
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
Abstract excerpt
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, identified in 189 Northern Finnish hereditary breast cancer patients in parallel sequencing of 796 DDR genes, were studied...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.