Q&A: Dr. Jennifer Klemp Answers Questions About PALB2 Research

A recent study published in The New England Journal of Medicine looked at harmful mutations, or changes in the DNA of a cell, found on the PALB2 gene. The study found that, like BRCA1 and BRCA2 gene mutations,  PALB2 mutations greatly increase a person’s chance of getting breast cancer.

We asked Jennifer R. Klemp, PhD, MPH, MA, a few questions about these findings and about PALB2 mutations. Dr. Klemp has worked in breast cancer prevention and survivorship since 1996. She is director of cancer survivorship, an associate professor of medicine in the division of clinical oncology and a cancer risk and genetic counselor at the University of Kansas Cancer Center. She is the founder and CEO of Cancer Survivorship Training, Inc., an online education company supporting healthcare professionals. She is also the principal of Cancer Resource Partners, LLC, an organization providing consulting and resources to healthcare-related organizations and providers.

Living Beyond Breast Cancer: PALB2 was on doctors’ radars before this research was released. What new information does this study provide?

Jennifer R. Klemp, PhD., MPH, MA: PALB2 is a known gene responsible for an increased risk of cancer when it has a mutation, but known more in the research setting (identified in 2006) than in the clinical setting.

With the launch of panel testing, or testing for many genes at once (including PALB2), more clinicians have identified patients and families with a mutation in this gene. Current estimates suggest that one in every 1,000 women carry a PALB2 mutation, which means that it is very rare. That mutation significantly increases their risk for breast cancer and possibly for other cancers, too.

LBBC: If a person is tested and learns they have a PALB2 mutation, what can they do with this information?

Dr. Klemp: Recent research found that women carrying the PALB2 mutation had a 35 percent chance of developing cancer by age 70 – this is one in every three women. By comparison, women with a BRCA1 or BRCA2 mutation have a greater than 50 percent chance of developing breast cancer by age 70.

Therefore, women with a PALB2 mutation will follow recommendations similar to that of a BRCA1 and BRCA2 carrier, including early access to breast cancer screening including mammography, breast MRI and sometimes, breast ultrasound. Also, a discussion regarding the potential benefits of chemoprevention [the use of medicines, vitamins or other agents to try to reduce the risk of cancer, or delay its development or recurrence] and preventive surgery is recommended.

Unlike BRCA1 and BRCA2, we do not have data for the risk of a second primary breast cancer for those already diagnosed and who carry a PALB2 mutation. But this is still an important piece of information to know at the time of diagnosis or into post-treatment survivorship, for an informed discussion about surgical management and also for long-term screening recommendations.

LBBC: If someone previously went through genetic testing, is it possible they were tested for PALB2 but weren’t told about it? Will they be contacted now that this new research has come out or should they contact their doctors?

Dr. Klemp: With the addition of panel testing, it is possible that women might not know or remember what was on the panel. It is a good idea to look at your test report or get a copy (if you do not have one) to see what type of testing was performed.

Women who were eligible for BRCA1 and BRCA2 testing will likely be offered update testing, which includes PALB2, when data supports the practice and it is adequately reimbursed by insurance companies. If you underwent BRCA1 and BRCA2 testing, it is important to ask your provider about update testing and be an advocate for yourself and your family, especially in families with a strong history of breast cancer and who tested negative for BRCA1 and BRCA2 mutations.

LBBC: If someone tests negative for BRCA and PALB2 mutations, but has a strong family history of breast cancer, what else could be going on?

Dr. Klemp: Normally, if one tests negative for BRCA1, BRCA2, and PALB2, one could undergo update testing, which would include a panel with multiple rare genes instead of cherry picking one at a time. There are other genes associated with moderate and high risks for breast and related cancers, but less is known about what medical steps to take once we know about them. Talking with a provider who has expertise in cancer genetics would be an appropriate next step.

LBBC: What other research is being done on these and other genetic mutations?

Dr. Klemp: There are many institutions and organizations across the globe conducting research focused on cancer genetics. This includes the identification of genes related to cancer, risk of mutations on these genes for breast and related cancers, understanding how to manage patients based on their risk for cancer, and hopefully, the future repair of mutated genes.