Journal article

Penetrance analysis of the PALB2 c.1592delT founder mutation

Hannele Erkko, James G Dowty, Jenni Nikkila, Kirsi Syrjaekoski, Arto Mannermaa, Katri Pylkas, Melissa C Southey, Kaija Holli, Anne Kallioniemi, Arja Jukkola-Vuorinen, Vesa Kataja, Veli-Matti Kosma, Bing Xia, David M Livingston, Robert Winqvist, John L Hopper

CLINICAL CANCER RESEARCH | AMER ASSOC CANCER RESEARCH | Published : 2008

Abstract

PURPOSE: PALB2 is a recently identified breast cancer susceptibility gene. We have previously identified in the Finnish population a PALB2 c.1592delT founder truncation mutation that is associated with an increased risk of breast cancer. In the present study, we wanted to assess in more detail the increased risk (hazard ratio, HR) and the age-specific cumulative risk (penetrance) of c.1592delT with regard to susceptibility to breast and other forms of cancer. EXPERIMENTAL DESIGN: Modified segregation analyses fitted under maximum likelihood theory were used to estimate age-specific cumulative risks and HRs using the families of mutation carriers identified from a consecutive series of breast..

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