Data From QF’s Qatar Genome Programme Improves Breast Cancer Screening

A Qatar Genome Research Consortium study led by Dr. Lotfi Chouchane from Weill Cornell Medicine-Qatar reported in February the first landscape of cancer germline mutations – hereditary mutations – in the Qatari population.

And 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 program at HMC’s National Center for Cancer Care and Research (NCCCR), Qatar Biobank participants carrying pathogenic germline BRCA – BReast CAncer gene – 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 programs, 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 data from QGP has provided us the opportunity to save lives by identifying high-risk individuals who carry a BRCA mutation,” said Dr. Bujassoum.

“This will also be beneficial to their family members, who might not be eligible for the standard risk breast cancer screening because of their age or male gender, by giving them surveillance opportunities not only for breast cancer, but also for other associated cancers such as ovarian and prostate cancer.”

The national breast cancer screening program 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.

Now in its seventh year, QGP has sequenced over 30,000 genomes, generated and analyzed a huge amount of high-quality genomic data, and published its findings in various high-impact scientific journals and presented in several symposia both locally and internationally.

“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 utilized clinically, especially in the area of predictive genomics and preventive medicine”.