Identifying BRCA Carriers for Better Breast Cancer Diagnosis and Treatment


Halle Moore, MD, discusses key takeaways from a study on young patients with breast cancer carrying BRCA mutations presented at the 2024 ASCO Annual Meeting.

A study being presented at the 2024 American Society of Clinical Oncology (ASCO) investigated breast cancer in young women (diagnosed at 40 or younger) who carry mutations in BRCA1 or BRCA2 genes. These genes help repair DNA damage, and mutations increase cancer risk.

The researchers found key differences between BRCA1 and BRCA2 carriers. BRCA1 carriers tended to have more aggressive tumors, less lymph node involvement, less common hormone receptor/HER2 positivity, and received more chemotherapy less endocrine therapy. Conversely, BRCA2 carriers experienced more distant recurrences.

Interestingly, the risk of breast recurrence differed over time was higher in BRCA1 carriers in the first 5 years, especially in the first 2 years. However, BRCA2 carriers had a constant risk of recurrence over time and a higher risk of death after 9 years. Additionally, genetic testing before breast cancer diagnosis led to smaller tumors and less lymph node involvement. Patients also had slightly better survival rates.

This study highlights the importance of genetic testing for women at high risk of carrying BRCA mutations. Early identification can lead to earlier breast cancer detection and potentially improved outcomes.

Here, Halle Moore, MD, director of breast medical oncology in the Department of Hematology and Oncology at Cleveland Clinic Taussig Cancer Institute, and an investigator on the study, discusses the key takeaways from these findings.


0:05 | I think the most important sort of public health consideration here is that it does appear that outcomes may be different for those who know about their genetics vs those who don't. And so that I think is really important for those families in whom there are known mutations to share that information with other individuals in that family so that they can get tested and get appropriate augmented screening.

0:37 | Or if somebody has a strong family history, or other reasons to think that they could be a carrier of one of these mutations, testing does seem to make a difference.

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