Health AI Central
Peer-Reviewed Publication
JAMA Intern Med2026;186(3):344-352.March 1, 2026Journal Article

Germline Pathogenic Variants Among Women Without a History of Breast Cancer: A Secondary Analysis of the WISDOM Randomized Clinical Trial.

Kirkpatrick B Fergus1, Katherine S Ross1, Maren T Scheuner2,3,4, Amie M Blanco1, Jeffrey A Tice5, Elad Ziv1, Yiwey Shieh6, Laura van 't Veer7, Olufunmilayo I Olopade8, Deborah L Goodman9, Barry S Tong1, Heather Harvey10, Diana DeRosa11, Larissa Risty12, Erica Silver13, Andrea Kaster12, Allison Stover Fiscalini14, Kelly Blum1, Rachel Heise6, Leah Sabacan14, Diane Heditsian15, Susie Brain15, Antonia Petruse13, Martin Eklund16, Robert A Hiatt17,18, Alexander D Borowsky19, Arash Naeim13, Hannah L Park20,21, Andrea Z LaCroix22, Barbara A Parker11, Rachael Lancaster23, James Esserman24, Neil Wenger13, Vignesh Arasu25, Hoda Anton-Culver9, Laura J Esserman1, Lisa Madlensky11,26
1Cancer Genetics and Prevention Program, University of California, San Francisco.
2San Francisco VA Health Care System, San Francisco, California.
3Department of Medicine/Hematology-Oncology, University of California, San Francisco.
4Department of Pediatrics/Medical Genetics, University of California, San Francisco.
5Division of General Internal Medicine, Department of Medicine, University of California, San Francisco.
6Department of Population Health Sciences, Weill Cornell Medicine, New York, New York.
7Department of Laboratory Medicine, University of California, San Francisco.
8Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, Illinois.
9Department of Epidemiology, University of California, Irvine.
10Sanford Health, Sioux Falls, South Dakota.
11Moores UCSD Cancer Center, University of California, San Diego, La Jolla.
12Edith Sanford Breast Cancer, Sanford Health, Fargo, North Dakota.
13Division of Hematology-Oncology, Department of Medicine, David Geffen School of Medicine at UCLA, University of California, Los Angeles.
14Department of Surgery, University of California, San Francisco.
15Breast Science Advocacy Core, University of California, San Francisco.
16Karolinska Institutet, Stockholm, Sweden.
17Department of Epidemiology & Biostatistics, University of California, San Francisco.
18Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco.
19University of California, Davis, Sacramento.
20Department of Pathology & Laboratory Medicine, University of California, Irvine.
21Department of Epidemiology & Biostatistics, University of California, Irvine.
22Herbert Wertheim School of Public Health and Human Longevity Science, University of California, San Diego, La Jolla.
23University of Alabama at Birmingham.
24Diagnostic Center of Miami, Miami, Florida.
25Division of Research, Kaiser Permanente Division of Research, Pleasanton, California.
26Division of Genomics and Precision Medicine, Department of Medicine, University of California, San Diego, La Jolla.
PubMed PMC DOI PDF

Abstract

IMPORTANCE: The prevalence of pathogenic or likely pathogenic variants (PVs) in breast cancer susceptibility genes in the US population-regardless of family history risk factors-remains largely unknown because population-based genetic screening is not routinely performed. OBJECTIVE: To identify the prevalence of PVs in a large cohort of women offered criteria-independent genetic testing and to ev…

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