Breast Cancer Gene Variants and Contralateral Breast Cancer Risk
Author Information
Author(s): Reiner Anne S. MPH, Watt Gordon P. PhD, Malone Kathleen E. PhD, Lynch Charles F. MD PhD, John Esther M. PhD, Knight Julia A. PhD, Woods Meghan MPH, Liang Xiaolin MS, Tischkowitz Marc MD PhD, Conti David V. PhD, Robson Mark E. MD, Mellemkjær Lene PhD, Teraoka Sharon N. PhD, Concannon Patrick PhD, Bernstein Jonine L. PhD
Primary Institution: Memorial Sloan Kettering Cancer Center
Hypothesis
Are moderate- to high-risk breast cancer susceptibility variants associated with development of estrogen receptor (ER)-positive and ER-negative contralateral breast cancer (CBC) subtypes?
Conclusion
Deleterious variants in breast cancer susceptibility genes are associated with different rates of ER-specific contralateral breast cancer subtypes.
Supporting Evidence
- The rate of ER-positive CBC was 5 to 6 times higher in women with deleterious variants in BRCA2, ATM, and CHEK2.
- The rate of ER-negative CBC was 26 times higher in women with deleterious BRCA1 variants.
- First primary breast cancer ER status did not modify associations between deleterious variants and ER-specific CBC development.
Takeaway
Women with certain gene changes are more likely to develop breast cancer in the other breast, depending on the type of cancer they had first.
Methodology
This case-control study included women diagnosed with breast cancer and examined the association of gene variants with contralateral breast cancer.
Potential Biases
Potential bias due to non-standardized HR status determination and limited genotyping of other variants.
Limitations
The study had a relatively small number of carriers with deleterious variants and wide confidence intervals due to the small sample size.
Participant Demographics
Women younger than 55 years at first invasive breast cancer diagnosis.
Statistical Information
P-Value
p<0.001
Confidence Interval
95% CI, 1.11-21.08; 95% CI, 2.61-13.26; 95% CI, 8.01-85.44
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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