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PMID: 30964716 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology ·Vol. 37 ·No. 15 ·2019-00-20 ·Pages 1305-1315

Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, Miller D, Penberthy LS, Katz SJ

Abstract

Genetic testing for cancer risk has expanded rapidly. We examined clinical genetic testing and results among population-based patients with breast and ovarian cancer. 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. 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. 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.

MeSH Terms
Adult Aged Aged, 80 and over Breast Neoplasms/epidemiology,genetics California/epidemiology Cohort Studies Female Genetic Testing/methods Georgia/epidemiology Germ-Line Mutation Humans Middle Aged Ovarian Neoplasms/epidemiology,genetics SEER Program Young Adult
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Kurian Allison W
1 Stanford University, Stanford, CA.
Ward Kevin C
2 Emory University, Atlanta, GA.
Howlader Nadia
3 National Cancer Institute, Bethesda, MD.
Deapen Dennis
4 University of Southern California, Los Angeles, CA.
Hamilton Ann S
4 University of Southern California, Los Angeles, CA.
Mariotto Angela
3 National Cancer Institute, Bethesda, MD.
Miller Daniel
5 Information Management Services, Rockville, MD.
Penberthy Lynne S
3 National Cancer Institute, Bethesda, MD.
Katz Steven J
6 University of Michigan, Ann Arbor, MI.
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Article Info
Journal
Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Abbr.
J Clin Oncol
ISSN
1527-7755
DOI
10.1200/JCO.18.01854
Published
2019-00-20
Epub
2019-00-09
Pages
1305-1315
Language
English
Region
United States
NLM ID
8309333
PMCID
PMC6524988
Subset
IM
Grants
NCI NIH HHS · HHSN261201800032C · United States
NCI NIH HHS · HHSN261201800009C · United States
NCI NIH HHS · R01 CA225697 · United States
NCCDPHP CDC HHS · NU58DP006344 · United States
NCI NIH HHS · P01 CA163233 · United States
NCI NIH HHS · HHSN261201800015I · United States
NCI NIH HHS · HHSN261201800032I · United States
NCI NIH HHS · HHSN261201800015C · United States
NCI NIH HHS · HHSN261201800009I · United States
External Links
PubMed source DOI: 10.1200/JCO.18.01854 PMC Full Text View journal details
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