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Cyprus-linked genetic mutation causing breast and ovarian cancer identified

The Cyprus Institute of Neurology and Genetics (CING)

A genetic mutation, which is common only in Cypriot families, is responsible for most cases of hereditary breast and ovarian cancers, scientists at the Cyprus Institute of Neurology and Genetics (Cing) announced on Tuesday.

The discovery is the result of a major epidemiological research conducted at the Cing in cooperation with the Bank of Cyprus Oncology Centre and the state hospitals and oncology centres of Nicosia and Limassol, with the support of Europa Donna, the Anti-cancer Society and the cancer patients and fiends association Pasykaf.

According to the research findings, the mutation is found in the BRCA2 gene, as opposed to other countries where most mutations are found in the BRCA1 gene.

Speaking at a press conference, head of the Department of Electron Microscopy and Molecular Pathology of the Cing Dr Kyriacos Kyriacou said the research showed that the BRCA2 gene is responsible for a larger percentage of families with hereditary breast or ovarian cancer compared to BRCA1, which contrasts with other countries where BRCA1 mutations are most common.

He also said that the results of genetic analysis are important because this is the only way to locate high-risk individuals who need to be more closely monitored with the aim of prevention and timely diagnosis.

Kyriacou said that early diagnosis saves lives and increases the quality of life of cancer patients, and genetic analysis contributes significantly in this direction.

The BRCA1 and BRCA2 genes, responsible for the majority of hereditary breast and ovarian cancers, he said, were discovered in 1994-1995 through global studies in families with multiple cases of breast and ovarian cancer.

The discovery of these genes, he said, led to a revolution in the field of cancer genetics. Genetic analysis has now become part of the daily clinical practice in Cyprus as well, Kyriacou said.

Chief Executive Medical Director of the Cing Professor Leonidas Phylactou said that these results will be put to use immediately for the timely diagnosis of families with a history of breast and ovarian cancers.

“For us at the institute, it is a blessing but also a satisfaction to be able to find the causes of diseases on which the institute specialises. Research is one of the main goals of the institute’s work. Our goal is diagnosis, prognosis, prevention, counselling and, where possible, treatment or the organisation of targeted prevention programmes,” Phylactpu said. He added that the Cing remains committed to its task, aiming at the improvement of patients’ quality of life.

Oncologist and haematologist Dr Anastasia Constantinidou from the Bank of Cyprus Oncology Centre said that for clinical oncologists dealing with the diagnosis, treatment, and monitoring of cancer patients, the genetic information provided through the special examinations is crucial.

“Genetic tests are not necessary for all our patients, but as the results of the study show, the percentage of patients with specific mutations in our country is not negligible. The presence of these genetic mutations affects our treatment methods […]. It also shapes the way patients are monitored after initial treatment. Knowing the presence of such genetic changes in a cancer patient can lead to genetic testing to other members of his or her family, thus expanding the circle of people who need genetic counselling and, where necessary, follow up,” she said.

Constantinidou also said that recognising the growing need for targeted and international monitoring of these patients – and in some cases of their families – the Bank of Cyprus Oncology is contemplating the expansion of services provided to this group of patients.

Vice president of Europa Donna Cyprus Stella Mastora said that, in the context of both prevention and treatment, it is of the utmost importance that women know the genes they carry.

“The fact that this mutation of genes is passed on from parents to their offspring leads us to realise that this information helps the whole family and makes us understand the importance of this examination,” she said.

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