Bahrain’s healthcare system must expand access to genetic counselling and testing, researchers have said, after a new study found that nearly 40 per cent of women tested for hereditary breast and ovarian cancer carried high-risk genetic mutations.
The study, titled ‘The spectrum of genetic mutations among patients with hereditary breast and ovarian cancer’ was authored by a team of researchers from the Health Ministry and the Royal College of Surgeons in Ireland-Medical University of Bahrain (RCSI Bahrain), including Amani Al Hajeri, Amna Al Awadhi, Nitya Kumar and Ghufran Jassim.
“In this study, we aimed to identify and describe the high-risk pathogenic or likely pathogenic mutations in a cohort of 160 Bahraini patients who underwent genetic testing for hereditary cancer susceptibility genes,” researchers noted in the abstract.
“All women underwent NGS cancer gene panel testing. Demographic and clinical data were recorded for each patient.”
The 160 Bahraini research subjects were tested between 2021 and 2024. Researchers found that 39pc of them had gene mutations linked to breast and ovarian cancer.
Some of these changes were in well-known genes like BRCA1 and BRCA2, genes that play a crucial role in DNA repair and are commonly called tumour suppressor genes.
Other mutations were in less familiar genes like ATM and CHEK2, which also play a significant role in protecting the body from breast cancer.
“Effective preventive programmes at all levels, including awareness campaigns, screening and rehabilitation, are essential,” researchers said.
“We strongly advocate for the widespread availability of genetic counselling and testing, given their critical role in prevention, diagnosis, and treatment.
“Bahrain’s young age at onset (under 40 years) and the high frequency of pathogenic or likely pathogenic variants support the need for population-level risk assessment pathways, tiered genetic counselling models, and the integration of germline findings into multidisciplinary tumour boards across the GCC.
“We also recommend incorporating risk-assessment tools into primary care, surgical and oncology settings, with an emphasis on the importance of family history in breast and other hereditary cancers.”
Breast cancer is the most common cancer among women in Bahrain. In 2022, it made up 44pc of all cancers in women in the kingdom.
Bahrain also has the highest breast cancer rate in the Arabian Gulf, with an estimated incidence of 117 per 100,000 women, and age-standardised incidence rate per 100,000 of 58.5, exceeding that for all other GCC countries.
Women with medium-risk genes, like ATM or CHEK2, were more likely to die from cancer than those with BRCA1 or BRCA2 mutations.
According to researchers, this group is often missed in testing.
Currently, genetic testing in Bahrain is primarily offered to women who meet strict conditions, like having cancer at a young age or a strong family history.
This was cited as a limitation of the study and researchers have recommended conducting a larger, prospective study encompassing all patients referred for genetic testing, including male patients, with a focus on evaluating the effectiveness of cascade screening and genetic counselling.
“A comparative study should also be encouraged to compare the results with a matched control group of breast cancer female patients without a family history of the disease,” they added.
The study also recommended regional collaborative efforts, and pan-Arab variant curation networks to help uncover cancer-susceptible genetic variations that are unique to Arab genomes.
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