Breast Cancer Risk in Blood Relatives of Ataxia Telangiectasia Patients
Author Information
Author(s): Olsen J H, Hahnemann J M D, Børresen-Dale A-L, Tretli S, Kleinerman R, Sankila R, Hammarström L, Robsahm T E, Kääriäinen H, Bregård A, Brøndum-Nielsen K, Yuen J, Tucker M
Primary Institution: Institute of Cancer Epidemiology, Danish Cancer Society
Hypothesis
Carriers of ATM gene mutations are predisposed to breast cancer.
Conclusion
The increased risk for female breast cancer in Nordic AT families is mainly seen in women under 55 years, particularly mothers of probands.
Supporting Evidence
- 225 cancers were observed among 1445 blood relatives, with a standardized incidence ratio (SIR) of 1.3.
- 34 cases of breast cancer were observed, with a SIR of 1.7.
- 21 breast cancer cases were diagnosed before age 55, with a SIR of 2.9.
- The risk for breast cancer was significantly elevated in mothers of probands, with a SIR of 6.7.
- Overall, the study indicated a 2.9-fold increase in breast cancer risk associated with ATM heterozygosity.
Takeaway
This study looked at families with a rare disease and found that women related to these patients have a higher chance of getting breast cancer, especially if they are mothers.
Methodology
The study analyzed cancer incidence in blood relatives of AT patients using national cancer registries and family pedigree data.
Potential Biases
Potential bias due to selective testing of relatives and confounding factors related to reproductive patterns.
Limitations
The study groups were small, leading to low precision in risk estimation for specific cancers.
Participant Demographics
The study included 1445 blood relatives, consisting of 733 men and 712 women.
Statistical Information
P-Value
0.005
Confidence Interval
95% CI, 1.1–1.4
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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