Women At High Risk For Breast Cancer Due To Certain Pathogenic Variants

Breast cancer in women are more likely due to pathogenic variants in protein coding genes BARD1 and RAD51D. The changes in DNA creates negative impact and fails to function normally.

The breast cancer causing genes BARD1 and RAD51D are protein in nature. These genes inherit pathogenic variants leading to higher risks of breast cancer in women, finds a research conducted at Mayo Clinic.

"The BARD1 and RAD51D genes, have been included in clinical testing panels to determine breast cancer risk," says Fergus Couch, Ph.D., a geneticist at Mayo Clinic and lead author of the study which was presented at the San Antonio Breast Cancer //Symposium

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‘Not all, but certain pathogenic variant genes like BARD1 and RAD51D are responsible for increasing the risk of breast cancer in women.’

"However, the genes were identified as 'breast cancer' genes through very small studies, so there has never been strong evidence indicating that they are important in driving breast cancer risk."

Dr. Couch and his colleagues studied data from 65,000 women with breast cancer to obtain risk estimates associated with 21 cancer predisposition genes from testing panels.

They found that pathogenic variants in certain genes, such as BARD1 and RAD51D, caused moderately increased risks of breast cancer.

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These researchers also confirmed the involvement of the ATM, CHEK2 and PALB2 genes in breast cancer.

They also found that the RAD50 and MRE11A genes did not increase risks of breast cancer.

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"Our findings are important, because genes that do not increase risk of breast cancer can now be ignored and potentially removed from clinical testing panels," said Dr. Couch.

Dr. Couch also said, "I am hopeful this work will lead to much better interpretation of results from clinical, hereditary [and] genetic testing."

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Source-Eurekalert