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1 in 8 Cancer Patients Have Inherited Gene Mutations

A recent study shows that around 13.5% of cancer patients possess an inherited gene mutation associated with cancer. However, current guidelines when it comes to genetic testing for cancer risk are severely outdated.

Scientists with Mayo Clinic’s Center for Individualized Medicine conducted genetic testing on more than 3,000 cancer patients at Mayo Clinic Cancer Centers throughout the US. The findings of their study show that 1 in 8 or 13.5% of the patients possess an inherited gene mutation that is associated with cancer development.

According to Niloy Jewel Samadder, MD, gastroenterologist and hepatologist and author of the study, everyone possesses some risk of developing a form of cancer, and there are many cases wherein an individual develops cancer by chance. However, some people are genetically predisposed to developing specific types of cancer such as breast cancer and colon cancer.

A genetic mutation can cause a gene to malfunction and eventually become cancerous. The study confirms that among these mutations, 10% to 25% are inherited mutations that can potentially lead to cancer. Uncovering these hidden inherited genetic mutations, according to Dr. Samadder, could then be helpful in creating more opportunities for better cancer management and targeted cancer therapies.

Genetic testing is still underutilized in cancer care because of outdated guidelines.Currently, the standard guidelines in determining cancer risk through genetic testing are only able to identify 48% of the patients with inherited genetic mutation. In other words, more than half of individuals who possess inherited gene mutations never knew of their health status.

A genetic risk that runs in the blood

Aside from informing an individual of their own personal genetic cancer risks, the discovery of an inherited cancerous gene mutation through genetic testing also allows their family to know their own possible genetic predispositions. This empowers family members to pursue their own health plan for early detection and management of cancer.

Dr. Samadder adds that early genetic testing could hopefully lower the instances of cancer in families and potentially prevent cancer altogether in future generations.

The study shows just how crucial DNA testing for genetic predisposition is to uncover inherited genetic mutations. This can revolutionize cancer treatment methods to individualize therapies, hopefully managing the disease and improving the survival rates.


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