Author Interviews, Breast Cancer, Genetic Research, NEJM / 07.08.2014
Newly Discovered Gene Mutations Strongly Linked To Breast Cancer
MedicalResearch.com Interview with:
Dr Marc Tischkowitz MD PhD
University Lecturer (Associate Professor) and
Honorary Consultant Physician in Medical Genetics
Department of Medical Genetics, University of Cambridge
Medical Research: What are the main findings of the study?
Dr. Tischkowitz: The PALB2 gene was first identified in 2006 and linked to breast cancer in 2007 but until now we have not had good breast cancer risk estimates for women who have inherited PALB2 mutations. This study was started in 2009 by an group of research institutions (The PALB2 Interest Group) in Canada, US, Europe (UK, Belgium, Greece, Italy, Finland) and Australia. We studied 362 individuals with PALB2 mutations from 154 families. We found that awomen with a PALB2 mutation will on average have a 35% risk of developing breast cancer by the age of 70, rising to 58% if there is a strong family history. Our study will help clinicians to better advise and manage such women.
There are several new aspects.
- It is by far the largest study to date and provides the most accurate risk estimates for PALB2 mutation carriers.
- It shows that the breast cancer risk is modified by the family history. (more…)