This is a wake-up call.
A new study examining the DNA of over 44,000 individuals has found that many people carry genetic mutations that significantly elevate their cancer risk. This research highlights a major flaw in current national guidelines for genetic screening, which may be failing to identify individuals at higher risk for cancer, according to Dr. Niloy Jewel Samadder, the lead author and a gastroenterologist at the Mayo Clinic.
Dr. Samadder stressed that detecting these genetic markers early could lead to more effective screenings and targeted treatments, potentially saving lives and benefiting families. This study is part of the Tapestry project at the Mayo Clinic’s Center for Individualized Medicine, which focuses on analyzing the exomes—the protein-coding regions of genes—rather than just the entire genome.
In this latest research, the team analyzed the exomes of 44,000 participants and discovered that about 550, or 1.24%, carried hereditary genetic mutations that increased their risk of breast, ovarian, or Lynch syndrome cancers. Many of these individuals were previously unaware of their elevated risk, and a significant portion would not have qualified for genetic testing based on existing criteria.
Mutations in the BRCA1 and BRCA2 genes are known to raise the risk of breast and ovarian cancers, with BRCA1 mutations leading to a 60% lifetime risk of breast cancer and a 40% risk of ovarian cancer. BRCA2 mutations are associated with a 50% risk of breast cancer and a 20% risk of ovarian cancer, and can also increase the risk of prostate and pancreatic cancers. Lynch syndrome is linked to an 80% lifetime risk of colorectal cancer and a 50% risk of endometrial cancer.
The findings, published on July 16 in JCO Precision Oncology, also reveal that current genetic screening guidelines may be biased, particularly affecting minority groups. Dr. Samadder emphasized the need to broaden genetic screening practices to better identify individuals at risk for these cancer predisposition syndromes.
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