A study by the Qatar Genome Research Consortium, led by Dr Lotfi Chouchane from Weill Cornell Medicine-Qatar, has reported the first landscape of cancer germline mutations – hereditary mutations – in the Qatari population.
Since then, scientists at Qatar Foundation’s (QF) Qatar Genome Programme (QGP) have teamed up with clinicians at Hamad Medical Corporation (HMC) to build on these findings, using them to inform the current standard of care in the country.
Germline or hereditary mutations are passed on from parents to their children, and play an important role in cancer risk and susceptibility. Knowledge and understanding of these hereditary mutations can be used to develop preventive measures that reduce the likelihood of developing cancer.
As part of the collaboration with Dr Salha Bujassoum, Senior Consultant and Clinical Lead of the Cancer Genetic & Breast Cancer Programme at HMC’s National Center for Cancer Care and Research (NCCCR), Qatar Biobank participants carrying pathogenic germline Breast Cancer gene (BRCA) variants were identified. These variants increase the risk of developing breast cancer in women and prostate cancer in men.
Fresh blood samples collected from the variant-carrying participants were examined and variants found in the Qatar Genome database were validated experimentally by HMC. The participants were then seen by Dr Reem Al-Sulaiman, Assistant Professor and Lead of Genetic Counseling Directory at HMC, who referred them to the high-risk breast cancer clinic or urology clinic to manage their risk of cancer.
Breast cancer is the most common cancer in Qatar, accounting for 31 percent of cancer cases in women. The lifetime risk of developing breast cancer in people carrying BRCA mutations is up to 87 percent. Testing for these mutations allows women to proactively manage their risk through enhanced screening programmes, chemoprevention, prophylactic surgery, and other methods. In addition, family members of BRCA mutation carriers can also be offered testing to assess their risk of developing cancer.
The national breast cancer screening programme in Qatar targets women between the ages of 45-69, using mammogram testing for early detection. The high-risk genetic clinic at the NCCCR is also designated to evaluate people at high risk of developing cancer because of personal or family history, including breast cancer.
“This collaboration with HMC serves as a proof of principle experiment where data from a population study is successfully being used to inform clinical intervention,” said Dr Said Ismail, Director at QGP. “We would like to extend this bench-to-bedside approach to other familial genetic disorders
Prof. Asmaa Althani, Chairperson of the National Qatar Genome Committee, said: “National projects like Qatar Biobank and QGP have already screened tens of thousands of Qatari genomes for research purposes, and now they are showing that the data produced can be utilised clinically, especially in the area of predictive genomics and preventive medicine”.