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Polish, Canadian scientists find new breast cancer gene

28.03.2023 09:30
Scientists from Poland and Canada have discovered a new gene called ATRIP, whose mutations cause a high risk of breast cancer, according to news outlets.
Photo:ארז האורז, CC BY-SA 4.0 , via Wikimedia Commons

The discovery of the new gene was announced by Cezary Cybulski, a geneticist from the Pomeranian Medical University in the northwestern Polish city of Szczecin, Polish state news agency PAP reported on Monday.

Cybulski was in charge of the international team of researchers that found the gene, alongside Mohammad Akbari from Toronto University.

The findings of the study have been published in the prestigious American Journal of Human Genetics, the PAP news agency reported. 

‘Finding may lead to better diagnosis and treatment’

According to the researchers, the discovery may lead to an improvement in the diagnosis and treatment of women with breast cancer.

Cybulski told PAP that the association between a mutation of the ATRIP gene and the incidence of breast cancer was found in a study of 16,000 women with breast cancer and 9,000 healthy women from Poland.   

The scientist said that the Polish-Canadian research team had identified “one repeated mutation in the ATRIP gene in a genetically homogenous Polish population,” adding that the mutation causes a shortening of the protein contained in the gene.

ATRIP gene mutation ‘more than doubles breast cancer risk’ in Polish women

According to Cybulski, some 25,000 Polish women have the mutated ATRIP gene and for them, the risk of breast cancer “likely more than doubles to over 20 percent,” and “to more than 30 percent if they have a relative with breast cancer.”

Moreover, the Polish and Canadian scientists also found mutations in the ATRIP gene among British women, and there the mutations more than tripled the risk of breast cancer.

This suggests that “mutations in the ATRIP gene are probably the cause of breast cancer also among many other ethnic groups around the world,” the PAP news agency reported.  

Tests for ATRIP gene mutation to be available in 2023

Cybulski said the findings would enable the creation of “a simple and cheap test to detect the mutation in the ATRIP gene” that would be available to Polish women before the end of 2023.   

He added: “Patients who test positive will be advised to undergo preventive screening earlier in their lives, namely breast ultrasonography from the age of 25 and mammography from the age of 35.”

Cybulski also said that the breast cancer caused by the mutation in the ATRIP gene would likely “respond well to chemotherapy and PARP inhibitor treatment,” the PAP news agency reported.

The new breast cancer gene was found thanks to a research project overseen by Poland’s National Science Centre (NCN) and carried out by researchers from the Pomeranian Medical University in Szczecin in cooperation with scientists from the University of Toronto, officials said.


Source: PAP, abczdrowie.pl