Genetic testing and results in population-based breast cancer patients and ovarian cancer patients.

Authors

Allison Kurian

Allison W. Kurian

Stanford School of Medicine, Stanford, CA

Allison W. Kurian , Kevin C. Ward , Nadia Howlader , Dennis Deapen , Ann S. Hamilton , Angela Mariotto , Daniel Miller , Steven J. Katz , Lynne Penberthy

Organizations

Stanford School of Medicine, Stanford, CA, Emory University, Atlanta, GA, National Cancer Institute, Bethesda, MD, University of Southern California, Los Angeles, CA, Department of Preventative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, Information Management Services, Rockville, MD, University of Michigan, Ann Arbor, MI, National Cancer Institute at the National Institutes of Health, Bethesda, MD

Research Funding

NIH

Background: Genetic testing for cancer risk has expanded rapidly, with more genes tested. Little is known about test use or pathogenic variant (PV) prevalence among population-based cancer patients. Methods: Women aged ≥20 years, diagnosed with breast or ovarian cancer in 2013-14 and reported to SEER registries covering the entire populations of Georgia and California, were included. Registry data were linked to clinical genetic testing results, performed from 1/1/2012 through 4/30/2016, by 4 laboratories that did nearly all cancer genetic testing in these states. Results: There were 77,085 breast cancer and 6,001 ovarian cancer patients, with almost 30,000 patients of racial groups other than non-Hispanic (NH) White. One-quarter (24.1%) of breast and one-third (30.9%) of ovarian cancer patients had genetic test results. While test use was similar across racial groups for breast cancer, testing in ovarian cancer patients was lower in NH Blacks (21.6%, CI 18.2-25.4%, vs NH Whites: 33.8%, CI 32.3-35.4%). The most prevalent PVs in breast cancer patients were BRCA1 (3.2%), BRCA2 (3.1%), CHEK 2 (1.6%), PALB2 (1.0%), ATM (0.7%), NBN (0.3%) and TP53 (0.3%); and in ovarian cancer patients were BRCA1 (8.7%), BRCA2 (5.8%), CHEK2 (1.4%), BRIP1 (0.9%), MSH2 (0.8%), ATM (0.6%) and RAD51C (0.6%). Racial differences in PVs included BRCA1 (ovarian cancer: NH Whites, 7.2%, CI 5.9-8.8%; Hispanics, 16.1%, CI 11.8-21.2%) and CHEK2 (breast cancer: NH Whites, 2.3%, CI 1.8-2.8%; NH Blacks, 0.2%, CI 0-0.8%). Among those tested for all genes designated by the National Comprehensive Cancer Network as associated with their cancer type (breast: ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, STK11, TP53; ovarian: BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, RAD51C, RAD51D), 7.7% of breast and 14.5% of ovarian cancer patients had a PV. Conclusions: Clinically tested, population-based breast cancer patients and ovarian cancer patients had 8-15% PV prevalence in guideline-designated cancer risk genes. CHEK2 and ATM PVs were relatively prevalent in ovarian cancer patients: this merits further study because CHEK2 and ATM are not known to be ovarian cancer risk genes. Racial testing disparities are targets for improvement.

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Abstract Details

Meeting

2018 ASCO Annual Meeting

Session Type

Poster Session

Session Title

Cancer Prevention, Hereditary Genetics, and Epidemiology

Track

Prevention, Risk Reduction, and Genetics

Sub Track

Germline Genetic Testing

Citation

J Clin Oncol 36, 2018 (suppl; abstr 1578)

DOI

10.1200/JCO.2018.36.15_suppl.1578

Abstract #

1578

Poster Bd #

149

Abstract Disclosures