A recurrent mutation in PALB2 in Finnish cancer families

  title={A recurrent mutation in PALB2 in Finnish cancer families},
  author={Hannele Erkko and Bing Xia and Jenni Nikkil{\"a} and Johanna Schleutker and Kirsi Syrj{\"a}koski and Arto J Mannermaa and Anne Kallioniemi and Katri Pylk{\"a}s and Sanna-Maria Karppinen and Katrin Rapakko and Alexander Miron and Qing Sheng and Guilan Li and Henna Mattila and Daphne W Bell and Daniel A. Haber and Mervi Grip and Mervi Reiman and Arja Jukkola-Vuorinen and Aki Mustonen and Juha Kere and Lauri A. Aaltonen and Veli-Matti Kosma and Vesa V. Kataja and Ylermi Soini and Ronny Drapkin and David M. Livingston and Robert Winqvist},
BRCA1, BRCA2 and other known susceptibility genes account for less than half of the detectable hereditary predisposition to breast cancer. Other relevant genes therefore remain to be discovered. Recently a new BRCA2-binding protein, PALB2, was identified. The BRCA2–PALB2 interaction is crucial for certain key BRCA2 DNA damage response functions as well as its tumour suppression activity. Here we show, by screening for PALB2 mutations in Finland that a frameshift mutation, c.1592delT, is present… CONTINUE READING
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