In the biggest study of its type to date, conducted by researchers from around the world, numerous novel genes related to Breast Cancer in women were discovered and published in Nature Genetics. These results may be crucial in enhancing the accuracy of genetic testing for illness in the future.

New Genes, Hidden Impact

ATM, BARD1, BRCA1, BRCA2, CHEK2, RAD51C, RAD51D, PALB2, and TP53 are genes known to raise the risk of breast Cancer. But together, these don’t make up more than half of the relative risk in a family.

Researchers from the University of Cambridge and the Université Laval in Quebec, Canada, worked together to find the other 50 percent by looking into how rare coding variants affect the risk of breast cancer. Protein truncating variants (PTVs) and rare missense variants (RMVs) were the two main types of variants that were looked into.

The results of three large whole-exome sequencing (WES) studies were examined. These studies included 26,368 female cases and 217,673 female controls who were mostly of European descent.

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The Tip Of The Iceberg

In a PTV meta-analysis, 30 genes were linked to the risk of breast cancer. There are 28 of them that have been linked to a higher chance of getting the disease. This is much more than the number of 15 that was expected. So far, five of these six genes—ATM, BRCA1, BRCA2, CHEK2, and PALB2—have been linked to an increased risk of breast cancer. A brand-new gene 6 has been found (MAP3K1).

In this meta-analysis of rare missense mutations, 18 of the 28 genes found were linked to a higher risk of breast cancer. This is more likely than a chance of 14 genes. But there were no new genes found.

When PTVs and rare missense variants were looked at together, more strong associations were found in ATRIP, BARD1, CDKN2A, and LZTR1 genes. These genes have been chosen as possible ways to prevent cancer.

Further Testing Needed

Heritability studies show that most of the effect of PTVs on breast cancer is due to five genes: BRCA1, BRCA2, ATM, CHEK2, and PALB2. These are already known and have been tried out in the clinic.

But the study found a lot more positive connections than anyone thought. The number of genes that cause breast cancer is