Cancer’s Signatures — and What They Mean for Patients

Research shows what different cancer types have in common

Cancer’s Signatures — And What They Mean For Patients

When you or a loved one has cancer, chances are you describe it by where it attacks the body: breast cancer, lung cancer, prostate cancer. The same goes for us in the medical community — we examine cancer under a microscope and look for what makes it different.

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But cancer itself doesn’t always make the same distinctions. Researchers and doctors are increasingly looking for what different types of cancer have in common as much as what sets them apart. That is the case with new research, published in the journal Nature, that describes the “signatures” of cancer mutation processes.

“Researchers and doctors are increasingly looking for what different types of cancer have in common as much as what sets them apart.”

Charis Eng, MD, PhD

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Founding Chairwoman of the Genomic Medicine Institute

In this study, researchers examined nearly 5 million acquired (not inherited) mutations in more than 7,000 cases of cancer, including more than 30 different cancer types. They searched for patterns in how cancer mutates our DNA. The results, and the follow-up studies that will surely come, may change the way we diagnose and treat this deadly disease.

What the study shows

Among all of those different cases and types of cancer, researchers found 21 signatures of mutation processes. For example, 25 of the 30 different cancer types had signatures related to aging. This is not a surprise, since aging is the top risk factor for developing cancer.

Perhaps more surprising are the results related to APOBEC, a family of enzymes that help protect our DNA. I’ve often referred to such enzymes as the copy editors of our DNA, because they seek out errors and repair them. When copy editors such as APOBEC mutate, cancer spreads more easily.

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Researchers found that more than 50 percent of the cancer types they studied were linked to APOBEC. In other words, whether the cancer is in the breast, in the lung or elsewhere, the process by which it develops is likely similar.

Common processes, common treatments

Using this knowledge, one day an oncologist may care less about where a cancer is in your body and more about what genetic signatures and processes are involved. In some ways, this approach is already in play. For example, my own clinic focuses on PTEN gene mutations, regardless of what type of cancer — or even non-cancer conditions such as autism — they may lead to.

The more we know about the signatures of cancer, the more we can target those signatures for diagnosis and treatment. For example, diagnostic tests may soon focus on cancer caused by APOBEC mutations. In turn, drugs can be developed to target APOBEC specifically.

More research is needed, of course. But looking at what different cancers have in common could have real implications for patients in need.

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Charis Eng, MD, PhD

Charis Eng, MD, PhD is founding chairwoman of the Genomic Medicine Institute and founding director of its Center for Personalized Genetic Healthcare. Dr. Eng is a global leader in cancer genetics and cancer genomic medicine.
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