- New Breast Cancer Genes Uncovered for More Accurate Risk Assessment
- Significance of Recently Identified Genes in Breast Cancer Risk
- Potential Impact on Genetic Exams and Future Screening Efforts
A blood test could better identify breast cancer risk after the discovery of at least four new genes.
There are already well-known key breast cancer genes, such as BRCA1.
A DNA mutation raised Angelina Jolie’s chance of breast cancer, so she had a mastectomy.
One of four new genes discovered by scientists could increase women’s breast cancer risk by fivefold.
One in 200 women in the United Kingdom carries a potentially deleterious variant of one of these genes.
Future blood tests for genetic breast cancer risk will identify neglected women.
The four identified genes are designated MAP3K1, LZTR1, SAMHD1, and CDKN2A.
Professor Doug Easton of the University of Cambridge, who led the study, remarked, ‘The first significant genes linked to breast cancer, BRCA1 and BRCA2, were only discovered in the 1990s, so there is still so much we don’t know.
The blood tests currently offered on the NHS to women with a family history of breast cancer to determine their genetic risk are crucial, and in the future, it may be possible to offer them to all women.
Only 10% of women inherit elevated risk from their families from the five most important breast cancer genes.
“The four genes we’ve identified help to explain an additional one percent, which is a significant step towards identifying thousands of women at increased risk for breast cancer and providing them with more frequent screening.”
This will make future genetic exams more accurate and reliable.
The Nature Genetics study analysed the genomes of 26,000 breast cancer patients and 217,000 healthy women.
Each gene in the human body is analogous to a book, as it contains the instructions for the body to produce proteins using only four letters – A, G, C, and T, which represent molecules.
Researchers looked for single-letter ‘typos’ in the text that would prevent or malfunction a crucial breast cancer-prevention protein.
A rare error in the MAP3K1 gene could increase a woman’s breast cancer risk by five.
The study, which was conducted in conjunction with Laval University in Canada, has thus far identified only four genes, but it suggests that up to 90 additional genes may be linked to breast cancer.
To determine which of these 90 genes are genuinely significant, researchers must now examine a larger sample of females.
The four new genes, like those previously discovered, may increase the risk of breast cancer by inhibiting proteins that either prevent the rapid multiplication of tumor cells or prevent the replication of DNA errors that can lead to tumor formation.
