TCF7L2 Variant and Familial Breast Cancer Risk
Author Information
Author(s): Burwinkel Barbara, Shanmugam Kalai S, Hemminki Kari, Meindl Alfons, Schmutzler Rita K, Sutter Christian, Wappenschmidt Barbara, Kiechle Marion, Bartram Claus R, Frank Bernd
Primary Institution: German Cancer Research Center, DKFZ, Heidelberg, Germany
Hypothesis
Does the TCF7L2 rs12255372 variant affect familial breast cancer risk?
Conclusion
The study suggests that the TCF7L2 rs12255372 variant may influence the risk of familial breast cancer.
Supporting Evidence
- The T allele of rs12255372 showed an association with borderline significance.
- The study included a large sample size of familial breast cancer cases.
- The analysis was conducted on BRCA1/2 mutation-negative patients to avoid confounding effects.
Takeaway
This study looked at a gene variant to see if it makes people more likely to get breast cancer if their family has a history of it.
Methodology
The study analyzed the TCF7L2 rs12255372 variant in 592 familial breast cancer cases and 735 controls using TaqMan allelic discrimination.
Potential Biases
The study only included BRCA1/2 mutation-negative cases, which may limit generalizability.
Limitations
The findings are based on a single ethnic group and the significance is borderline, suggesting further confirmation is needed.
Participant Demographics
The cases were unrelated female index patients aged 19 to 87 years, median age 45, and controls were healthy, unrelated blood donors aged 26 to 68 years, median age 49.
Statistical Information
P-Value
0.04
Confidence Interval
1.01-1.42
Statistical Significance
p=0.04
Digital Object Identifier (DOI)
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