Familial relative risks for breast cancer by pathological subtype: a population-based cohort study
Nasim Mavaddat1, Paul D Pharoah, Fiona Blows
1Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK. nasim@srl.cam.ac.uk
Breast Cancer Research : BCR
|February 12, 2010
Summary
Familial breast cancer risk is similar for estrogen receptor-negative and -positive subtypes. Genetic factors like BRCA1/2 and common variants contribute differently to familial risk based on tumor subtype, aiding personalized risk prediction.
Area of Science:
- Oncology
- Genetics
- Epidemiology
Background:
- First-degree relatives of breast cancer patients have double the general population risk.
- Breast cancer heterogeneity suggests familial risk may vary by tumor subtype.
- The contribution of genetic susceptibility variants to subtype-specific familial risk is not well understood.
Purpose of the Study:
- To compute familial relative risk (FRR) for breast cancer subtypes.
- To estimate the contribution of genetic variants to subtype-specific FRR.
Main Methods:
- Calculated breast cancer FRR for subtypes based on estrogen receptor (ER), progesterone receptor (PR), and HER2 status.
- Compared incidence in relatives of cases to the general population.
- Estimated genetic variant contribution using subtype-specific genotypic relative risks and allele frequencies.
Main Results:
- No significant difference in overall breast cancer FRR between ER-negative (1.78) and ER-positive (1.82) disease.
- BRCA1/2 mutations explained 32% of FRR for ER-negative and 9.4% for ER-positive disease.
- Common susceptibility variants explained 1.9% of FRR for ER-negative and 9.6% for ER-positive disease.
Conclusions:
- Familial breast cancer risk is elevated for both ER-negative and ER-positive subtypes.
- Integrating receptor and genetic status may improve risk prediction for women with a family history.
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