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

doi:10.1001/jamainternmed.2025.7323

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Article

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

JAMA internal medicine - 1 Mar 2026

Fergus Kirkpatrick B, Ross Katherine S, Scheuner Maren T, Blanco Amie M, Tice Jeffrey A, Ziv Elad, Shieh Yiwey, van 't Veer Laura, Olopade Olufunmilayo I, Goodman Deborah L, Tong Barry S, Harvey Heather, DeRosa Diana, Risty Larissa, Silver Erica, Kaster Andrea, Fiscalini Allison Stover, Blum Kelly, Heise Rachel, Sabacan Leah, Heditsian Diane, Brain Susie, Petruse Antonia, Eklund Martin, Hiatt Robert A, Borowsky Alexander D, Naeim Arash, Park Hannah L, LaCroix Andrea Z, Parker Barbara A, Lancaster Rachael, Esserman James, Wenger Neil, Arasu Vignesh, Anton-Culver Hoda, Esserman Laura J, Madlensky Lisa

Abstract excerpt

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 evaluate the...

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Identifiers

PMID: 41385723
DOI: 10.1001/jamainternmed.2025.7323
PMCID: PMC12701530

Genes

ATM
BRCA1
BRCA2
CDH1
CHEK2
PALB2
PTEN
STK11
TP53

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