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Cited by 373Cancer Risks and FactorsBRCA gene mutations in cancerGenetic Associations and Epidemiology

Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States

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Maas, Paige, Barrdahl, Myrto, Joshi, Amit D., Auer, Paul L., Gaudet, Mia M., Milne, Roger L., Schumacher, Fredrick R., Anderson, William F. +37 more·2016·JAMA Oncology
DOI 10.1001/jamaoncol.2016.1025PMC PMC5719876
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Abstract

IMPORTANCE: An improved model for risk stratification can be useful for guiding public health strategies of breast cancer prevention. OBJECTIVE: To evaluate combined risk stratification utility of common low penetrant single nucleotide polymorphisms (SNPs) and epidemiologic risk factors. DESIGN, SETTING, AND PARTICIPANTS: Using a total of 17 171 cases and 19 862 controls sampled from the Breast and Prostate Cancer Cohort Consortium (BPC3) and 5879 women participating in the 2010 National Health Interview Survey, a model for predicting absolute risk of breast cancer was developed combining information on individual level data on epidemiologic risk factors and 24 genotyped SNPs from prospective cohort studies, published estimate of odds ratios for 68 additional SNPs, population incidence rate from the National Cancer Institute-Surveillance, Epidemiology, and End Results Program cancer registry and data on risk factor distribution from nationally representative health survey. The model is used to project the distribution of absolute risk for the population of white women in the United States after adjustment for competing cause of mortality. EXPOSURES: Single nucleotide polymorphisms, family history, anthropometric factors, menstrual and/or reproductive factors, and lifestyle factors. MAIN OUTCOMES AND MEASURES: Degree of stratification of absolute risk owing to nonmodifiable (SNPs, family history, height, and some components of menstrual and/or reproductive history) and modifiable factors (body mass index [BMI; calculated as weight in kilograms divided by height in meters squared], menopausal hormone therapy [MHT], alcohol, and smoking). RESULTS: The average absolute risk for a 30-year-old white woman in the United States developing invasive breast cancer by age 80 years is 11.3%. A model that includes all risk factors provided a range of average absolute risk from 4.4% to 23.5% for women in the bottom and top deciles of the risk distribution, respectively. For women who were at the lowest and highest deciles of nonmodifiable risks, the 5th and 95th percentile range of the risk distribution associated with 4 modifiable factors was 2.9% to 5.0% and 15.5% to 25.0%, respectively. For women in the highest decile of risk owing to nonmodifiable factors, those who had low BMI, did not drink or smoke, and did not use MHT had risks comparable to an average woman in the general population. CONCLUSIONS AND RELEVANCE: This model for absolute risk of breast cancer including SNPs can provide stratification for the population of white women in the United States. The model can also identify subsets of the population at an elevated risk that would benefit most from risk-reduction strategies based on altering modifiable factors. The effectiveness of this model for individual risk communication needs further investigation.

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  • Polygenic risk scores alone already predict breast cancer, prostate cancer, and type 1 diabetes risk in European descent patients more accurately than current clinical models.

    “For example, polygenic risk scores alone already predict breast cancer, prostate cancer, and type 1 diabetes risk in European descent patients more accurately than current clinical models2–4.”

    From Clinical use of current polygenic risk scores may exacerbate health disparities (2019) · cites this paper as [2]

    The Results (Assessment of Interactions and Risk Model Building; page not provided) report a higher AUC for PRS-92 alone (0.623) than for a model using questionnaire-based risk factors alone (0.588) in breast cancer risk prediction. They do not compare the PRS with established clinical models, and the PRS-92 included simulated data for 68 SNPs. This source addresses breast cancer in white women, not the sentence’s prostate cancer or type 1 diabetes examples. (LLM, conf=0.86)

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Authors
Maas, P., Barrdahl, M., Joshi, A. D., Auer, P. L., Gaudet, M. M., Milne, R. L., Schumacher, F. R., Anderson, W. F., Check, D., Chattopadhyay, S., Baglietto, L., Berg, C. D., Chanock, S. J., Cox, D. G., Figueroa, J. D., Gail, M. H., Graubard, B. I., Haiman, C. A., Hankinson, S. E., Hoover, R. N., Isaacs, C., Kolonel, L. N., Le Marchand, L., Lee, I.-M., Lindström, S., Overvad, K., Romieu, I., Sanchez, M.-J., Southey, M. C., Stram, D. O., Tumino, R., VanderWeele, T. J., Willett, W. C., Zhang, S., Buring, J. E., Canzian, F., Gapstur, S. M., Henderson, B. E., Hunter, D. J., Giles, G. G., Prentice, R. L., Ziegler, R. G., Kraft, P., Garcia-Closas, M., & Chatterjee, N.
Affiliations
  • National Institutes of Health (US)
  • German Cancer Research Center (DE)
  • Harvard University (US)
  • Fred Hutch Cancer Center (US)
  • American Cancer Society (US)
  • The University of Melbourne (AU)
  • University of Southern California (US)
  • National Cancer Institute (US)
  • Inserm (FR)
  • Brigham and Women's Hospital (US)
  • Georgetown University (US)
  • University of Hawaiʻi at Mānoa (US)
  • University of Hawaii Cancer Center, Honolulu
  • Aarhus University (DK)
  • Centre international de recherche sur le cancer (FR)
  • Escuela Andaluza de Salud Pública. Instituto de Investigación Biosanitaria ibs.GRANADA. Hospitales Universitarios de Granada/Universidad de Granada, Granada, Spain22CIBER de Epidemiología y Salud Pública (CIBERESP), Spain
  • Cancer Registry and Histopathology Unit, “Civic- M.P.Arezzo” Hospital, ASP Ragusa, Italy
  • University of Washington (US)
  • Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland31Breakthrough Breast Cancer Research Centre, Division of Genetics and Epidemiology, The Institute of Cancer Research, London, England
Corresponding author
Chatterjee, Nilanjan
ORCID
Venue
JAMA Oncology
Publisher
American Medical Association (AMA)
Published
2016-10-01
Volume
2
Issue
10
Pages
1295
ISSN
2374-2437 (ISSN-L)
DOI
10.1001/jamaoncol.2016.1025
PMC
PMC5719876
OpenAlex
W2400613861
Cited by
373
References
0
Citations by year
2026: 12 · 2025: 29 · 2024: 31 · 2023: 45 · 2022: 41 · 2021: 46 · 2020: 61 · 2019: 49 · 2018: 31 · 2017: 17 · 2016: 10 · 2015: 1
FWCI
19.42
Type
journal article
Language
en
Open access
Locations
  • JAMA Oncology (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • RISalud Institutional Health Repository of Andalucía (submittedVersion, other-oa)
  • CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion, other-oa)
  • Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
Funders
  • World Health Organization
  • National Institutes of Health (HHSN268201100004C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C)
  • National Institute on Aging (HHSN-271-2011-00004C,)
  • National Heart, Lung, and Blood Institute (HHSN2682011-00001I, HHSN2682011-00002I, HHSN2682011‐00004I, HHSN268201100046C, HHSN2682011-00003I)
  • National Cancer Institute (Z01CP010181, U01CA098710, U01CA098216, U01CA098758, U01CA098233, R35CA197449)
Topics
  • Health Sciences › Medicine › Oncology › Cancer Risks and Factors
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
breast cancer, absolute risk prediction, risk stratification, single nucleotide polymorphisms, modifiable risk factors, non-modifiable risk factors, family history (medicine), body mass index, hormone replacement therapy, alcohol consumption, smoking, reproductive factors, breast cancer prevention, white women, National Health Interview Survey, breast cancer incidence
MeSH terms
Adult, Aged, Aged, 80 and over, Breast Neoplasms, Female, Humans, Middle Aged, Prospective Studies, Risk Factors, United States, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Risk Reduction Behavior, White People, Genetic Association Studies

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