ReadYourDNA

Breast Cancer

Where your DNA places you among other people, and the studies behind it.

General information

Not tailored to your result, and not medical advice

Take Part in Screening When You Are Invited: Mammographic screening detects breast cancer earlier, when it is more treatable, and national programs set out who is invited and how often. Take up the invitation when it comes, and if you have a strong family history say so, because that can change what is appropriate for you. U.S. Preventive Services Task Force

Limit Alcohol Consumption: Alcohol intake is one of the more consistent modifiable risk factors for breast cancer. A pooled reanalysis of 53 studies estimated that risk rises by about 7% for each additional 10 grams of alcohol (roughly one standard drink) consumed per day, and the association is dose-dependent. Reducing alcohol is a reasonable, evidence-based way to lower risk. British Journal of Cancer

Maintain a Healthy Weight: Excess body weight after menopause is associated with higher risk of estrogen-receptor-positive breast cancer, largely because adipose tissue becomes a major source of estrogen once the ovaries stop producing it. Managing weight through diet and activity is associated with lower risk and may reduce circulating estrogen and inflammatory markers. National Cancer Institute

Exercise Regularly: In observational studies summarized by the NCI, the most physically active women had roughly 12-21% lower breast cancer risk than the least active, with benefit seen before and after menopause. Exercise is thought to act partly by lowering estrogen, insulin, and inflammatory markers. General guidance is 150-300 minutes of moderate activity per week. National Cancer Institute

Consider Genetic Counseling If Family History Is Present: This polygenic score does not test for high-penetrance BRCA1 or BRCA2 mutations, which are a different kind of risk entirely. If you have a first-degree relative with breast cancer, a family pattern of breast or ovarian cancer, or Ashkenazi Jewish ancestry, ask about genetic counseling and clinical BRCA testing. National Cancer Institute

Genetics vs Environment

How much of this is genetic?

Genetics explains 31% of why people differ in this trait. The rest is environment, daily habits and chance.

Heritability estimate: Mucci et al. 2016, Cancer Epidemiol Biomark Prev

About Breast Cancer

Background and further reading

Breast cancer is the most commonly diagnosed cancer in women and arises from the uncontrolled growth of breast epithelial cells. In the United States, a woman's average lifetime risk of developing invasive breast cancer is about 13% - roughly a 1 in 8 chance [1]. There are several subtypes (defined largely by estrogen-receptor, progesterone-receptor, and HER2 status) with different treatment responses and prognoses. Risk rises with age, and most cases are diagnosed after age 50. Outcomes have improved markedly: U.S. breast cancer death rates fell by about 44% between 1989 and 2022, driven by earlier detection through screening and better treatment [1].

Genetic Basis: The Nordic Twin Study of Cancer estimates the heritability of breast cancer at about 31% [2]. The genetic contribution falls into two very different categories. A small share of cases (roughly 5-10%) involves rare, high-penetrance mutations - most notably in BRCA1 and BRCA2 - that carry a large individual effect: cumulative breast cancer risk to age 80 is estimated at around 72% for BRCA1 and 69% for BRCA2 carriers [3]. The rest of the heritable risk is polygenic, spread across many common variants of small individual effect identified by GWAS; a large meta-analysis identified 65 new loci, bringing the total to roughly 180 known common-variant regions [4]. From these variants, a 313-SNP polygenic score (PRS313) has been developed [5]. This PRS reflects common-variant polygenic risk and is NOT a substitute for clinical BRCA testing - a low score does not rule out a high-penetrance mutation.

Risk Factors: Alongside genetics, several non-genetic factors are associated with breast cancer risk. Alcohol is consistently linked to higher risk: a pooled reanalysis of 53 studies found risk rose by about 7% for each additional 10 grams of alcohol (roughly one drink) consumed per day [6]. Excess body weight after menopause is associated with elevated risk of estrogen-receptor-positive disease, partly because adipose tissue becomes a major source of estrogen once the ovaries stop producing it [7]. Higher physical activity is associated with roughly 10-20% lower risk in observational studies [7]. Reproductive factors that increase lifetime estrogen exposure - early menarche, late menopause, and not having children - also raise risk. Because these associations come largely from observational data, individual effects vary. Regular mammographic screening does not lower risk but enables earlier detection, when treatment is most effective.

How this was calculated

The published research behind your score, and the variants it draws on.

Study Details

67 published scores from 16 studies

The breast cancer score combines 67 polygenic scores drawn from 16 published studies.

Fritsche LG (2020). Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. Am J Hum Genet: 1.1M

Namba S (2022). Common germline risk variants impact somatic alterations and clinical features across cancers. Cancer Res: 1.1M

Hu J (2024). Using clinical and genetic risk factors for risk prediction of 8 cancers in the UK Biobank. JNCI Cancer Spectr: 1.0M

Gao G (2022). Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach. Hum Mol Genet: 57k

Mavaddat N (2018). Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. Am J Hum Genet: 4k

Mars N (2022). Genome-wide risk prediction of common diseases across ancestries in one million people. Cell Genom: 6.5M

Mars N (2020). Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers. Nat Med: 6.4M

Monti R (2024). Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning. Am J Hum Genet: 1.1M

Youssef O (2024). High-Resolution Genotyping of Formalin-Fixed Tissue Accurately Estimates Polygenic Risk Scores in Human Diseases. Lab Invest: 1.1M

Mars N (2020). The role of polygenic risk and susceptibility genes in breast cancer over the course of life Nat Commun: 1.1M

Jermy B (2024). A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk. Nat Commun: 872k

Ohbe H (2022). Development and validation of genome-wide polygenic risk scores for predicting breast cancer incidence in Japanese females: a population-based case-cohort study. Breast Cancer Res Treat: 17k

Truong B (2024). Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases. Cell Genom: 3.7M

Jung H (2024). Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction. Commun Biol: 1.1M

Privé F (2022). Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort Am J Hum Genet: 489k

Raben TG (2023). Biobank-scale methods and projections for sparse polygenic prediction from machine learning. Sci Rep: 5k

Sources

American Cancer Society. How Common Is Breast Cancer? Breast Cancer Statistics. American Cancer Society (2024)

Mucci LA, et al. The heritability of breast cancer among women in the Nordic Twin Study of Cancer. Cancer Epidemiology, Biomarkers & Prevention (2016)

Kuchenbaecker KB, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA (2017)

Michailidou K, et al. Association analysis identifies 65 new breast cancer risk loci. Nature (2017)

Mavaddat N, et al. Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. American Journal of Human Genetics (2019)

Hamajima N, et al. (Collaborative Group on Hormonal Factors in Breast Cancer). Alcohol, tobacco and breast cancer — collaborative reanalysis of individual data from 53 epidemiological studies. British Journal of Cancer (2002)

National Cancer Institute. Physical Activity and Cancer Fact Sheet. National Cancer Institute (2024)

Related Traits

These traits are influenced by some of the same genes and variants as this one

Body Mass Index: A measure of body weight relative to height, used as a proxy for overall adiposity.

Age at Menarche: The age at which menstruation first begins, reflecting pubertal timing and reproductive development.

Age at Menopause: The age at which menstruation permanently ceases, reflecting ovarian aging and reproductive lifespan.

Back to All Traits

Content updated August 2026.

ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.

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