Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP
2008

Linkage Mapping of Breast Cancer Risk Gene

Sample size: 868 publication Evidence: high

Author Information

Author(s): Nexø Bjørn A, Vogel Ulla, Olsen Anja, Nyegaard Mette, Bukowy Zuzanna, Rockenbauer Eszter, Zhang Xiuqing, Koca Cemile, Mains Mette, Hansen Bettina, Hedemand Anne, Kjeldgaard Anette, Laska Magdalena J, Raaschou-Nielsen Ole, Cold Søren, Overvad Kim, Tjønneland Anne, Bolund Lars, Børglum Anders D

Primary Institution: Institute of Human Genetics, University of Aarhus

Hypothesis

Is there an association between genetic markers in the 19q13.3 region and breast cancer susceptibility?

Conclusion

The marker RAI-3'd1 is likely a cause of the association between the chromosome 19q13.3 region and breast cancer.

Supporting Evidence

  • The study identified a new tandem repeat marker, RAI-3'd1, associated with breast cancer.
  • The relative risk for breast cancer was significantly higher for women with the RAI-3'd1 marker.
  • The study involved a large cohort of postmenopausal women, enhancing the reliability of the findings.
  • The results suggest that the RAI gene region may influence breast cancer risk across different age groups.

Takeaway

Scientists found a gene that might make some women more likely to get breast cancer, especially if they are younger.

Methodology

The study used linkage disequilibrium mapping to analyze genetic markers in a cohort of breast cancer cases and matched controls.

Potential Biases

There is a potential for confounding from matching parameters, although the authors believe this is unlikely.

Limitations

The study may have confounding factors due to the unmatched case-control design used in some analyses.

Participant Demographics

The study involved 434 postmenopausal breast cancer cases and 434 matched controls, all of whom were Caucasian women aged 50-64.

Statistical Information

P-Value

0.0008

Confidence Interval

1.41–4.23

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2350-9-56

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