Oops, you're using an old version of your browser so some of the features on this page may not be displaying properly.

MINIMAL Requirements: Google Chrome 24+Mozilla Firefox 20+Internet Explorer 11Opera 15–18Apple Safari 7SeaMonkey 2.15-2.23

Poster display session

2467 - Genetic counseling, screening and risk reducing practices in patients with BRCA mutations


10 Sep 2017


Poster display session


Cancers in Adolescents and Young Adults (AYA);  Cancer Prevention


Rita Saroufim


Annals of Oncology (2017) 28 (suppl_5): v502-v506. 10.1093/annonc/mdx383


R. Saroufim1, S. Daouk2, I. Abou Dalle2, F. Kreidieh2, Y. Bidet3, N. El Saghir1

Author affiliations

  • 1 Internal Medicine / Oncology, American University of Beirut, 11 - Beirut/LB
  • 2 Internal Medicine, American University of Beirut, Beirut/LB
  • 3 Genetics And Molecular Biology, Centre Jean Perrin, Clermont-Ferrand/FR


Abstract 2467


Worldwide practices of genetic counseling remain variable. We present genetic counseling, mammography and MRI screening & risk-reducing surgeries on patients with BRCA mutations & VUS of our BRCA mutations study (El Saghir et al, Oncologist 2015).


Chart review & phone calls for collection of information were done on 45 pts out of the 250 pts tested. IRB approval obtained. 14 pts (5.6% of total) with deleterious mutations & 31 pts (12.4% of total) with VUS were included. 7 pts had metastatic breast cancer. 4 pts were not reachable. We present results on 33 pts for whom we collected information about genetic counseling, screening, Contralateral Prophylactic Mastectomy (CPM) & Risk Reducing Salpingo-oophorectomy (RRSO).


14 pts with deleterious mutations (7 BRCA1 & 7 BRCA2 positive pts) & 19 pts with 20 VUS mutations (4 BRCA1 & 16 BRCA2; 1 pt had both BRCA1 & BRCA2) were examined. Of the 14 pts with BRCA deleterious mutations, 57.14% (8/14 pts) said they received some genetic counseling from their own oncologist and not a specialized genetic counselor. 85.71% (12/14) are undergoing regular screening mammography, 35.71% (5/14) are undergoing regular screening breast MRI. 50% (7/14) underwent CPM & 57.14% (8/14) underwent RRSO. Also, 57.14% (8/14) advised their family members, namely sisters & daughters, to undergo BRCA mutation testing. Of the 19 pts with VUS mutations, only 10.5% (2/19 pts) of the pts said they received some genetic counseling. 78.9% (15/19) are undergoing regular screening mammogram, 31.5% (6/19) are undergoing regular screening MRI breasts. 1 pt underwent CPM & 2 pts RRSO. Also, only 21.0% (4/19) advised their family members to undergo BRCA mutation testing.


The majority of pts with BRCA mutations continue to undergo screening mammography & breast MRI. Only 50% of pts with BRCA deleterious mutations underwent CPM & 60% RRSO, while a few pts with VUS mutations underwent CPM & RRSO. Genetic counseling is mostly done by medical oncologists. Our data supports recommendations to include genetic counseling in the training and Continuing Medical Education CME of Oncologists, and to improve patient education. More importantly, there is an urgent need for more certified professional genetic counselors in Lebanon & worldwide.

Clinical trial identification

Legal entity responsible for the study

Nagi El Saghir




All authors have declared no conflicts of interest.

This site uses cookies. Some of these cookies are essential, while others help us improve your experience by providing insights into how the site is being used.

For more detailed information on the cookies we use, please check our Privacy Policy.

Customise settings
  • Necessary cookies enable core functionality. The website cannot function properly without these cookies, and you can only disable them by changing your browser preferences.