Evidence map›Paper›PMID 39269552›Full record

ArticleBreast cancer research and treatment2025

Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors.

Laura H Rosenberger, Samantha M Thomas, Tina J Hieken, Kristalyn K Gallagher, Philip M Spanheimer, Heather B Neuman, Anna C Weiss, Tari A King, Jasmine Wong, Barry S Tong and 6 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Breast cancer research and treatment, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Laura H RosenbergerDepartment of Surgery, Duke University Medical Center, DUMC 3513, Durham, NC, 27710, USA. Laura.Rosenberger@duke.edu.ORCID http://orcid.org/0000-0002-6829-6747
Samantha M ThomasDuke Cancer Institute, Duke University, Durham, NC, USA.
Tina J HiekenDepartment of Surgery, Mayo Clinic, Rochester, MN, USA.
Kristalyn K GallagherDepartment of Surgery, University of North Carolina, Chapel Hill, NC, USA.
Philip M SpanheimerDepartment of Surgery, University of North Carolina, Chapel Hill, NC, USA.
Heather B NeumanDepartment of Surgery, University of Wisconsin, Madison, WI, USA.
Anna C WeissDana-Farber/ Brigham and Women's Cancer Center, Boston, MA, USA.
Tari A KingDana-Farber/ Brigham and Women's Cancer Center, Boston, MA, USA.
Jasmine WongDepartment of Surgery, University of California, San Francisco, San Francisco, CA, USA.
Barry S TongDepartment of Surgery, University of California, San Francisco, San Francisco, CA, USA.
Amanda L NashDepartment of Surgery, Duke University Medical Center, DUMC 3513, Durham, NC, 27710, USA.
Margaret Powell FrazierDuke Clinical Cancer Genetics, Duke University, Durham, NC, USA.
Carolyn S MenendezDepartment of Surgery, Duke University Medical Center, DUMC 3513, Durham, NC, 27710, USA.
E Shelley HwangDepartment of Surgery, Duke University Medical Center, DUMC 3513, Durham, NC, 27710, USA.
James W JakubDepartment of Surgery, Mayo Clinic, Jacksonville, FL, USA.
Jennifer K PlichtaDepartment of Surgery, Duke University Medical Center, DUMC 3513, Durham, NC, 27710, USA.

Funding

Women's Cancer Research ProgramP30CA014236 · NCI · DUKE UNIVERSITY · PI JOHN N. NORTON · 1985 to 2026
$174.8M
Building Interdisciplinary Research Careers in Women's Health (K12) - Administrative SupplementK12AR084231 · NIAMS · DUKE UNIVERSITY · PI Cindy Amundsen · 2023 to 2026
$2.5M
NCI NIH HHS P30 CA014236NIAMS NIH HHS K12 AR084231NIH HHS K12AR084231 (PI: Amundsen)NIH HHS P30CA014236 (PI: Kastan)
6 · The paper itself

Abstract

purposeGermline genetic mutations in women with phyllodes tumors (PT) are understudied, although some describe associations of PT with various mutations. We sought to determine the prevalence of pathogenic/likely pathogenic (P/LP) variants in women with PT.

methodsA 6-site multi-center study of women with a PT was initiated, then expanded nationally through an online "Phyllodes Support Group." All women underwent 84-gene panel testing. We defined eligibility for testing based on select NCCN (National Comprehensive Cancer Network) criteria (v1.2022). Logistic regression was used to estimate the association of covariates with the likelihood of a P/LP variant.

results274 women were enrolled: 164 (59.9%) through multi-center recruitment and 110 (40.1%) via online recruitment. 248 women completed testing; overall 14.1% (N = 35) had a P/LP variant, and over half (N = 19) of these individuals had a mutation in genes associated with autosomal dominant (AD) cancer conditions. The most common AD genes with a P/LP variant included CHEK2, ATM, and RAD51D. A quarter of participants (23.8%) met NCCN criteria for testing, but we found no difference in prevalence of a P/LP variant based on eligibility (p = 0.54). After adjustment, the presence of P/LP variants was not associated with age, NCCN testing eligibility, or PT type (all p > 0.05).

conclusionOur study demonstrates that 7.7% of women with PT harbor germline P/LP variants in genes associated with AD cancer conditions. Early identification of these variants has implications for screening, risk reduction, and/or treatment. National guidelines for women with PT do not currently address germline genetic testing, which could be considered.

Indexed as

Biomarkers, TumorBreast NeoplasmsGerm-Line MutationPhyllodes TumorAdultAgedFemaleGenetic Predisposition to DiseaseGenetic TestingHumansMiddle AgedYoung AdultBiomarkers, TumorGenetic testingGermline mutationsPathogenic/likely pathogenic variantsPhyllodes tumor

Identifiers

PMID39269552
PMCPMC11786992

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.