Rationale and Objectives
Pathogenic mutations in some genes elevate women's breast cancer risk, necessitating
risk-reduction strategies. Unfortunately, women are underscreened for cancer risk,
and when identified as potentially high risk, women seldom pursue genetic counseling
or testing. To improve cancer risk management, this project determined the feasibility
of radiology-operated, proactive, same-day risk assessment and genetic testing programs
to diagnose high-risk women undergoing breast imaging.
Materials and Methods
The Comprehensive Assessment, Risk & Education Program launched on June 5, 2019. Data
was tracked through July 22, 2020. Women undergoing breast imaging completed questionnaires
that calculated Tyrer-Cuzick risk and assessed genetic testing eligibility using National
Comprehensive Cancer Network criteria. To encourage eligible women's genetic testing
adherence, pretest counseling and saliva sample collection occurred that same day
in the imaging center. Samples were tested by a 34-multigene panel. Genetic counselors
called women with positive results. Women with negative results or variants of uncertain
significance were mailed notifications. Summary statistics were calculated.
Results
A total of 3345 women completed questionnaires. 1080 (32.3%) met genetic testing criteria.
468/1080 (43.3%) submitted genetic samples, and 416/1080 (38.5%) completed testing.
Of 416 completed tests, 269 (64.7%) tested negative, 109 (26.2%) had variants of uncertain
significance, and 38 (9.1%) diagnosed pathogenic mutations. 13/38 (34.2%) women with
pathogenic mutations implemented risk-reduction strategies at our institution.
Conclusion
Breast imaging centers can operate same-day cancer risk assessment and genetic testing
programs, identifying high-risk women that conventional risk assessment methods may
not have diagnosed. These proactive programs add value to radiology departments’ cancer
care beyond traditional imaging services.
Key Words
Abbreviations:
CARE (Comprehensive Assessment Risk & Education), MRI (magnetic resonance imaging), NCCN (National Comprehensive Cancer Network), PCPs (Primary care providers), TC (Tyrer-Cuzick), VUS (Variant of uncertain significance)To read this article in full you will need to make a payment
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References
National Cancer Institute. Cancer Stat Facts: Female Breast Cancer. Available at: https://seer.cancer.gov/statfacts/html/breast.html. Accessed October 26, 2020.
- Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.JAMA Oncol. 2017; 3: 1190-1196
- Overview of the genetic basis toward early detection of breast cancer.Breast Cancer (Dove Med Press). 2019; 11: 71-80
- Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.J Clin Oncol. 2011; 29: 3747-3752
- American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.J Clin Oncol. 2014; 32: 833-840
National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic (version 1.2021). Available at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf. Accessed October 26, 2020.
- Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.JAMA. 2019; 322: 652-665
- Breast Cancer Screening in Women at Higher-Than-Average Risk: Recommendations From the ACR.J Am Coll Radiol. 2018; 15: 408-414
- Use of Endocrine Therapy for Breast Cancer Risk Reduction: ASCO Clinical Practice Guideline Update.J Clin Oncol. 2019; 37: 3152-3165
- Current knowledge of risk reducing mastectomy: Indications, techniques, results, benefits, harms.Breast. 2019; 46: 48-51
- Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.JAMA. 2010; 304: 967-975
- Interviews with primary care physicians regarding taking and interpreting the cancer family history.Fam Pract. 2008; 25: 334-340
- Cancer genetic risk assessment and referral patterns in primary care.Genet Test Mol Biomarkers. 2009; 13: 735-741
- The family history–more important than ever.N Engl J Med. 2004; 351: 2333-2336
- Provider Discussions of Genetic Tests With U.S. Women at Risk for a BRCA Mutation.Am J Prev Med. 2018; 54: 221-228
- Cancer risk assessment: quality and impact of the family history interview.Am J Prev Med. 2004; 27: 239-245
- A model for patient-direct screening and referral for familial cancer risk.Fam Cancer. 2016; 15: 707-716
- Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review.Clin Genet. 2017; 92: 121-133
- Implementation of a risk assessment program in a breast-imaging community practice.Breast Cancer. 2016; 23: 273-278
- Why Is Cancer Genetic Counseling Underutilized by Women Identified as at Risk for Hereditary Breast Cancer? Patient Perceptions of Barriers Following a Referral Letter.J Genet Couns. 2017; 26: 697-715
- Breast Cancer Risk Assessment at the Time of Screening Mammography: Perceptions and Clinical Management Outcomes for Women at High Risk.J Genet Couns. 2017; 26: 776-784
- American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.CA Cancer J Clin. 2007; 57: 75-89
National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Colorectal (version 1.2020). Available at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf. Accessed October 26, 2020.
- Population genetic screening for hereditary breast and ovarian cancer in at-risk patients: A novel testing and prevention model for community hospitals reveals high mutation rates rurally.J Clin Oncol. 2020; 38 (1575-1575)
- Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting.Obstet Gynecol. 2018; 132: 1121-1129
- Reasons women at elevated risk of breast cancer refuse breast MR imaging screening: ACRIN 6666.Radiology. 2010; 254: 79-87
- Trends in screening breast magnetic resonance imaging use among US women, 2006 to 2016.Cancer. 2020; 126: 5293-5302
- Results from MAGENTA: A national randomized four-arm noninferiority trial evaluating pre- and post-test genetic counseling during online testing for breast and ovarian cancer genetic risk.J Clin Oncol. 2020; 38 (1506-1506)
- A Web-Based Tool to Automate Portions of Pretest Genetic Counseling for Inherited Cancer.J Natl Compr Canc Netw. 2020; 18: 841-847
- Enhancing the Value Chain to Increase Customer Satisfaction and Build Successful Breast Imaging Practices.Journal of Breast Imaging. 2019; 1: 56-59
Article info
Publication history
Published online: December 16, 2020
Accepted:
December 8,
2020
Received in revised form:
December 7,
2020
Received:
October 28,
2020
Footnotes
Declarations of interest: none.
Identification
Copyright
© 2020 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.
