Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients
Open accessAbstract
PURPOSE: Genetic testing for cancer risk has expanded rapidly. We examined clinical genetic testing and results among population-based patients with breast and ovarian cancer. METHODS: The study included all women 20 years of age or older diagnosed with breast or ovarian cancer in California and Georgia between 2013 and 2014 and reported to the SEER registries covering the entire state populations. SEER data were linked to results from four laboratories that performed nearly all germline cancer genetic testing. Testing use and results were analyzed at the gene level. RESULTS: There were 77,085 patients with breast cancer and 6,001 with ovarian cancer. Nearly one quarter of those with breast cancer (24.1%) and one third of those with ovarian cancer (30.9%) had genetic test results. Among patients with ovarian cancer, testing was lower in blacks (21.6%; 95% CI, 18.1% to 25.4%; v whites, 33.8%; 95% CI, 32.3% to 35.3%) and uninsured patients (20.8%; 95% CI, 15.5% to 26.9%; v insured patients, 35.3%; 95% CI, 33.8% to 36.9%). Prevalent pathogenic variants in patients with breast cancer were BRCA1 (3.2%), BRCA2 (3.1%), CHEK 2 (1.6%), PALB2 (1.0%), ATM (0.7%), and NBN (0.4%); in patients with ovarian cancer, prevalent pathogenic variants were BRCA1 (8.7%), BRCA2 (5.8%), CHEK2 (1.4%), BRIP1 (0.9%), MSH2 (0.8%), and ATM (0.6%). Racial/ethnic differences in pathogenic variants included BRCA1 (ovarian cancer: whites, 7.2%; 95% CI, 5.9% to 8.8%; v Hispanics, 16.1%; 95% CI, 11.8% to 21.2%) and CHEK2 (breast cancer: whites, 2.3%; 95% CI, 1.8% to 2.8%; v blacks, 0.1%; 95% CI, 0% to 0.8%). When tested for all genes that current guidelines designate as associated with their cancer type, 7.8% of patients with breast cancer and 14.5% of patients with ovarian cancer had pathogenic variants. CONCLUSION: Clinically-tested patients with breast and ovarian cancer in two large, diverse states had 8% to 15% prevalence of actionable pathogenic variants. Substantial testing gaps and disparities among patients with ovarian cancer are targets for improvement.
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In some countries, confusion over reimbursement and disparities in testing compound the problem.
“In some countries, this is compounded by confusion over reimbursement and disparities in testing across society148.”
From A brief history of human disease genetics (2020) · cites this paper as [148]
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- Authors
- Kurian, A. W., Ward, K. C., Howlader, N., Deapen, D., Hamilton, A. S., Mariotto, A., Miller, D., Penberthy, L. S., & Katz, S. J.
- Affiliations
- Stanford University (US)
- Emory University (US)
- National Institutes of Health (US)
- University of Southern California (US)
- Information Management Services (US)
- University of Michigan (US)
- Corresponding author
- Kurian, Allison W.
- ORCID
- Venue
- Journal of Clinical Oncology
- Published
- 2019-05-20
- Volume
- 37
- Issue
- 15
- Pages
- 1305-1315
- ISSN
- 0732-183X (ISSN-L)
- 1527-7755
- PMC
- PMC6524988
- OpenAlex
- W2938370698
- Cited by
- 387
- References
- 57
- Citations by year
- 2026: 27 · 2025: 41 · 2024: 53 · 2023: 70 · 2022: 68 · 2021: 51 · 2020: 58 · 2019: 19
- FWCI
- 29.53
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Clinical Oncology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of Michigan (R01 CA225697)
- Myriad Genetics
- Invitae
- National Institutes of Health
- National Cancer Institute (HHSN261201800032C, HHSN261201800009C, HHSN261201800015C, HHSN261201800015I, R01CA225697, P01CA163233, HHSN261201800009I, HHSN261201800032I)
- National Center for Chronic Disease Prevention and Health Promotion (NU58DP006344)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
- Keywords
- germline genetic testing, breast cancer, ovarian cancer, pathogenic variants, BRCA1, BRCA2, CHEK2, racial and ethnic disparities, uninsured patients, germline mutations, hereditary cancer predisposition, SEER database, genetic testing utilization, PALB2, ATM, MSH2, niobium nitride, Chk1, BAP1
- MeSH terms
- Adult, Aged, Aged, 80 and over, Breast Neoplasms, California, Female, Genetic Testing, Georgia, Humans, Middle Aged, Ovarian Neoplasms, Cohort Studies, Germ-Line Mutation, SEER Program, Young Adult
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