BAP1 Gene Study

A study published last week in the medical journal Scientific Reports shows a new link between melanoma and mesothelioma through the BAP1 gene. The gene was previously identified as a genetic risk factor for developing mesothelioma in several studies.

Likewise, melanoma and mesothelioma have previously been linked. Although melanoma is a much more common form of cancer – it’s listed among the 10 most common forms of cancer by the National Cancer Institute – several newer treatments that have been approved by the FDA for treating melanoma also are showing promise with respect to treating mesothelioma. One example is Keytruda® (pembrolizumab), which has been approved for the treatment of unresectable or metastatic melanoma and which is currently being studied as an emerging treatment for mesothelioma.

The BAP1 gene has been linked to both mesothelioma and a form of melanoma known as uveal melanoma, which forms in the eye as opposed to the skin, like more familiar varieties of the cancer. Importantly, the BAP1 gene does not necessarily cause these cancers; however, a specific mutation of BAP1 can affect prognosis and may play a role in the metastasis (spreading) of both cancers, which can impact life expectancy and survival .

Family Cancers

This latest study was conducted by an international group of scientists from the the U.S., Finland, Germany, and Sweden, and it looked at cancer-related information from 15.7 million people in the Swedish Family-Cancer Database. More specifically, the study looked at familial connections between melanoma and other forms of cancer, finding that approximately 9% of melanomas were familial, with varying degrees of risk for developing other forms of cancer in close members of the family.

For mesothelioma, the study’s authors noted that there is “an association between cutaneous melanoma and mesothelioma, which could be expected as a manifestation of the novel BAP1-associated cancer syndrome, and would provide population-level evidence for the syndromic clustering of these cancers.” While the trend was significant, the authors of the study pointed out that there does not seem to be any difference in significance between pleural mesothelioma and peritoneal mesothelioma.

In addition to the link with mesothelioma, the study looked at the statistical links between melanoma and other forms of cancers as well. These other cancers associated with melanoma include:

  • Acute myeloid leukemia/myelofibrosis
  • Breast cancer
  • Cancer of unknown primary site (CUP) with melanoma histology
  • Colorectal cancer
  • Nervous system cancers
  • Prostate cancers
  • Small intestinal neuroendocrine tumors (NET)
  • Waldenström macroglobulinemia/myeloma

All of these showed different levels of association and risk to melanoma. Their association with mesothelioma cannot be determined based on this study, since the primary link between mesothelioma and melanoma is through the BAP1 gene, which is not likewise associated with these other cancers.

Further Research

This study seems to confirm previous studies that showed a link between melanoma, mesothelioma, and the BAP1 gene. Where researchers can go from here remains to be seen.

Given that mesothelioma has a research problem due to its status as a rare cancer, studies like this that help doctors understand its relationship to more common types of cancer could provide insight into new and better ways to treat it. Drugs like Keytruda® that can be developed to treat common cancers like melanoma could also be helpful for treating mesothelioma, at least in those cases where a genetic link through the mutated BAP1 gene is present.

At any rate, these types of studies show the continued need to keep pursuing novel ways at looking at how mesothelioma and other cancers are related. It’s impossible to know when a breakthrough in treatment – and possibly even a cure – might occur. Having more data to work with, though, is can only make that day come even sooner.