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Increased prostate, pancreatic cancer risks among BRCA mutation carriers support additional screening
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Individuals with
The findings support current recommendations that
Jacqueline Mersch, MS, CGC, who at the time of the study was a graduate student in the genetic counseling program at the University of Texas Graduate School of Biomedical Science at Houston, and colleagues sought to evaluate the incidence of malignancies other than breast and ovarian cancers in 1,072 patients who were identified as
“Our goals in defining the cancer spectrum associated with
Overall, Mersch and colleagues identified 1,177 cancers — which included 30 different cancer types — in the study population. Researchers then compared the incidence of these cancers in the study population with their expected age-related incidence in the general population.
The incidence of pancreatic cancer was significantly greater among
Men who harbored
Researchers observed a trend toward increased incidence of melanoma in individuals who harbored
“Our findings uphold the current NCCN Clinical Practice Guidelines for screening and management of Hereditary Breast and Ovarian Cancer syndrome,” Mersch said. “Furthermore, the significantly higher rate of pancreatic cancer found in our sample population compared to previous studies emphasizes the need for effective pancreatic cancer screening for these high-risk individuals.”
These data also highlight the importance of genetic counselors, Mersch said.
“Future research into the families of these individuals will expand on the base of knowledge built in this study,” Mersch said. “The familial cancer history, obtained by a genetic counselor in a clinic visit, is a valuable tool for risk assessment and genetic testing. This research is currently underway with results expected early next year.”
Disclosure: One researcher reports funding from and steering committee roles with BioMarin, Bristol-Myers Squibb and Novartis.
Jacqueline Mersch, MS, CGC, can be reached at the UT Southwestern Simmons Comprehensive Cancer Center, 2201 Inwood Road, Dallas, TX 75390-9323; email: jacqueline.mersch@utsouthwestern.edu.
Perspective
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Susan M. Domchek, MD
These results are consistent with other work, but this is an important issue and these data are a welcomed addition to the literature. We have long known that BRCA1 and BRCA2 mutations are associated with breast and ovarian cancers, and those are the cancers that everybody thinks about when they think about BRCA1/2. But from the beginning, we have also known that there are other associations with cancer risks, particularly for BRCA2. Increased risks for pancreatic cancer and prostate cancer are seen with BRCA2, yet the pancreatic cancer risk is particularly under-recognized.There are data demonstrating that prostate cancers associated with BRCA2 mutations are more aggressive than prostate cancers that aren’t associated with BRCA2 mutations. This has implications for decisions regarding prostate cancer screening in BRCA2 carriers, because PSA screening might make a lot more sense for individuals with a BRCA2 mutation than in the general population.
The pancreatic cancer risk seen with BRCA2 also is important and similar to that seen in prior studies.
There is one notably absent finding here. There has been a debate about whether there is an increased risk for colon cancer or an increased risk for uterine cancer associated with BRCA1 mutations, but researchers did not see that in this study. However, there are different types of uterine cancer, so whether BRCA1 specifically increases high-risk types of uterine cancer is something that needs to be further evaluated and elucidated.
Because this has been long debated, the two issues that would be helpful to dig deeper into with larger studies are the uterine cancer and colon cancer risks. Everybody needs a colonoscopy at age 50 years due to general population screening guidelines, but the question becomes whether we should be doing something different besides that in BRCA1 mutation carriers. We really do not have good data to suggest we should at this point. The uterine cancer risk is really relevant because these women are generally undergoing removal of the ovaries, but the removal of the uterus is a much bigger surgery. We need to have an accurate sense of what that the uterine cancer risk is with BRCA1/2.
The risks for breast and ovarian cancers with BRCA1/2, and for pancreatic and prostate cancers with BRCA2, have been consistently seen. This is a very useful reminder that, when you’re looking at a family that has — for instance — breast cancer and pancreatic cancer, you should consider BRCA1/2 mutations. There have been prior studies that have shown up to 20% of families with familial pancreatic cancer — those who have three or more cases of pancreatic cancer in one family — may have a BRCA2 mutation.
What we now need to know is what we can do about that risk. There are some data regarding pancreatic cancer screening, including endoscopic ultrasound, but that is still an area of active study. It is not well known at this point whether we can help people with pancreatic cancer risk, but we are very hopeful.
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