BARD1 Cys557Ser Variant and Breast Cancer Risk in Iceland

Sample size: 1090 publication 10 minutes Evidence: moderate

Author Information

Author(s): Stacey Simon, Patrick Sulem, Oskar T. Johannsson, Agnar Helgason, Julius Gudmundsson, Jelena P. Kostic, Kristleifur Kristjansson, Thora Jonsdottir, Helgi Sigurdsson, Jon Hrafnkelsson, Jakob Johannsson, Thorarinn Sveinsson, Gardar Myrdal, Hlynur Niels Grimsson, Jon T. Bergthorsson, Laufey T. Amundadottir, Jeffrey R. Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson

Primary Institution: deCODE Genetics, Reykjavik, Iceland

Hypothesis

Does the BARD1 Cys557Ser variant confer susceptibility to breast cancer?

Conclusion

The BARD1 Cys557Ser variant increases the risk of single and multiple primary breast cancers, especially in carriers of the BRCA2 999del5 mutation.

Supporting Evidence

The Cys557Ser allele was found at a frequency of 0.028 in breast cancer patients and 0.016 in controls.
Carriers of the Cys557Ser variant had an increased risk of subsequent primary breast tumors.
The variant was more common in patients with a family history of breast cancer.

Takeaway

A specific gene variant called BARD1 Cys557Ser can make women more likely to get breast cancer, especially if they have another mutation called BRCA2 999del5.

Methodology

The study involved a population-based cohort of breast cancer patients and controls, genotyping for the BARD1 Cys557Ser variant and analyzing familial clustering.