What Patients With Breast Cancer Can Learn From Germline Testing

Germline testing, or genetic testing of the DNA that a person inherits from their parents, can be a source of information for patients with breast cancer, an expert explained in an interview with CURE®.

“It can tell them if they're positive about their risk for additional breast cancers, so-called second primary breast cancers,” explained Dr. Marie Wood. “It can also tell them about [their] risk for other cancers, if they have a mutation that puts them at risk for, say, colon cancer, ovarian cancer, melanoma or pancreatic cancer. This is important because they can then undergo screening or preventative treatments for these cancers.”

Despite its importance, uptake of germline testing has been found to be low. A study published in JAMA in 2023 found that, among nearly 1.4 million patients who received a diagnosis of cancer between 2013 and 2019 in California and Georgia, only 6.8% in total underwent germline testing.

Wood is a professor and medical oncologist in the Division of Medical Oncology at UCHealth University of Colorado Hospital in Aurora, Colorado and serves as the medical director for the Hereditary Cancer Program at the University of Colorado Cancer Center. She spoke with CURE® about the importance of obtaining information from germline testing for patients with breast cancer and what these individuals can learn from it.

Transcript:

For screening, patients who have high-risk mutations such as BRCA1 and BRCA2 — and there are others — can instead of just doing annual mammograms after their diagnosis, [can have] annual MRIs. Commonly, we sequence those every six months. For patients who have a high risk of a second primary breast cancer as identified by a germline mutation, they might want to consider bilateral mastectomies at the time of their diagnosis to reduce the risk of additional breast cancers. They might also think about other options, such as removing ovaries if you're at risk for ovarian cancer. Last but not least, we have a new category of drugs called PARP inhibitors. For patients with BRCA2 or BRCA1 mutations, they can take them after diagnosis and reduce the risk for recurrence; if they have metastatic disease and have BRCA1, or BRCA2, or actually a third gene, PALB2, that also offers them treatment options.

Transcript was edited for clarity and conciseness.

For more news on cancer updates, research and education, don’t forget to subscribe to CURE®’s newsletters here.