What does this research mean for the field?

A significant proportion of breast cancer patients who do not meet genetic testing guidelines may carry pathogenic variants, with the highest prevalence among Hispanic women. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.CHALLENGES_CONSENSUS.

What question did this study set out to answer?

This research aims to evaluate the prevalence of germline pathogenic variants in breast cancer patients who do not qualify for genetic testing based on current guidelines.

February 22, 2026Clinical Cancer Research

Abstract PS3-02-30 : Ancestry-specific prevalence of pathogenic variants among patients with breast cancer who do not meet guidelines for genetic testing

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This research aims to evaluate the prevalence of germline pathogenic variants in breast cancer patients who do not qualify for genetic testing based on current guidelines.
Constructed multivariable logistic regression models to assess prevalence trends.
Analyzed a cohort of 245,669 female breast cancer patients referred for hereditary cancer testing.
Assessed ancestry-specific prevalence for 25-48 hereditary cancer genes.
Evaluated patients diagnosed at older ages with no family history or prior personal history of cancer.
Overall prevalence of pathogenic variants was 6.3% for those diagnosed at age 50 and 3.6% at age 80.
The highest prevalence of pathogenic variants was among Hispanic women.
Pathogenic variants were frequently found in genes such as BRCA1, BRCA2, CHEK2, ATM, and PALB2.

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Implication

Multivariable analysis reveals ancestry-specific pathogenic variant prevalence in breast cancer patients, suggesting improved genetic testing access could enhance care.

Cite This Study

Bernhisel et al. (2026) studied this question.

synapsesocial.com/papers/699a9dc0482488d673cd3cc0 https://doi.org/10.1158/1557-3265.sabcs25-ps3-02-30

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Implication

Multivariable analysis reveals ancestry-specific pathogenic variant prevalence in breast cancer patients, suggesting improved genetic testing access could enhance care.

Abstract PS3-02-30 : Ancestry-specific prevalence of pathogenic variants among patients with breast cancer who do not meet guidelines for genetic testing

Key Points

Discussion

Implication

Cite This Study

Abstract PS3-02-30 : Ancestry-specific prevalence of pathogenic variants among patients with breast cancer who do not meet guidelines for genetic testing

Key Points

Discussion

Implication

Cite This Study

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