Identification of New Genes Linked to Triple Negative Breast Cancer
Understanding Triple Negative Breast Cancer
Triple-negative breast cancer (TNBC) is a distinct type of cancer characterized by the absence of estrogen, progesterone, and human epidermal growth factor receptors. TNBC represents approximately one-third of breast cancer cases in African American populations and around 15% of cases among individuals of European descent. This cancer subtype tends to be more advanced and aggressive compared to other forms of breast cancer, resulting in lower survival rates. While genes such as BRCA1 and BRCA2 have been associated with an increased risk of TNBC, other genetic factors may also contribute to this heightened risk.
New Research Findings
A recent study published in the Journal of the National Cancer Institute by Shimelis and colleagues aimed to uncover additional genes potentially linked to TNBC. Identifying these genes could facilitate genetic testing and enable earlier intervention for patients at risk. The study analyzed data from 10,901 TNBC patients who had undergone genetic screening.
Key Genetic Variants Identified
The research revealed that approximately 14% of TNBC patients exhibited significant genetic variants. The most frequently mutated genes included BRCA1 and BRCA2, along with PALB2 and BARD2. Notably, BRCA1 mutations were associated with an 18% increased risk of TNBC, while PALB2 mutations correlated with a 10% increase in risk. Additionally, mutations in BRIP1 and RAD51C were linked to a modestly higher risk of developing TNBC, particularly among patients under 35, with BRCA1 mutations being especially prevalent in this age group.
Implications for Genetic Screening and Treatment
The findings from Shimelis and colleagues highlight additional genetic markers that can aid in screening individuals with a familial history of ovarian and breast cancer. This information is crucial for healthcare providers, as it allows for a more accurate assessment of risk, earlier diagnoses, and the implementation of targeted treatments. Some of the identified genes have previously been associated with ovarian cancer, underscoring their relevance in TNBC as well.
Future Research Directions
While the study indicates no significant ancestry-based differences in the risk associated with specific mutations, further research involving larger populations is necessary to explore this aspect comprehensively.
Reference
Shimelis H, et al. Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing. JNCI J Natl Cancer Inst (2018) 110(8):djy106.