34IN - Is it necessary to screen everybody for inherited cancer? When, why and how

Date 29 September 2012
Event ESMO Congress 2012
Session How can medical oncologists deal with the new wave of genetic information about their patients?
Topics Hereditary syndromes
Personalised/Precision medicine
Basic Principles in the Management and Treatment (of cancer)
Presenter Ephrat Levy-Lahad
Authors E. Levy-Lahad
  • Shaare Zedek Medical Center, Hebrew University Medical School, Medical Genetics Institute, 91031 - Jerusalem/IL


Individuals who inherited mutations conferring high cancer risks should ideally be identified before they ever develop cancer. Such mutation carriers stand to reap the greatest benefit from surveillance and prevention measures. This begs the question of the optimal means of identifying such carriers. Currently, carriers are usually identified after they have already been diagnosed with cancer, representing a lost opportunity for prevention, or through a family history of cancer. Identification of carriers based on family history is limited by sufficient family size, sufficient information on family history of cancer, and familial communication about cancer diagnoses, and especially about results of genetic testing. We will present data on BRCA1/BRCA2 testing in the general Ashkenazi (European) Jewish population, which has common BRCA1/BRCA2 mutations, as a model for comprehensive genetic screening. In particular, we will discuss our findings that approximately half of BRCA1/BRCA2 families do not have significant family history, so that many carriers would not be identified without a general screening program. There are both technical and ethical challenges to such an approach, and these will be discussed.


The author has declared no conflicts of interest.