Evidence map›Paper›PMID 39049124›Full record

ArticleBreast cancer research : BCR2024

Genomic profiling and comparative analysis of male versus female metastatic breast cancer across subtypes.

Arun Kadamkulam Syriac, Nitish Singh Nandu, Allison Clark, Mehrad Tavallai, Dexter X Jin, Ethan Sokol, Kimberly McGregor, Jeffrey S Ross, Natalie Danziger, Jose Pablo Leone

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

Article in Breast cancer research : BCR, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
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  5. Case Report: A combination ofFrontiers in oncology · 2026
    Article
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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

10 authors.

Arun Kadamkulam Syriac *Dana-Farber Cancer Institute at St. Elizabeth's Medical Center, Boston, MA, USA.
Nitish Singh Nandu *University Hospital, University of Missouri Health Care, Columbia, MO, USA.
Allison ClarkFoundation Medicine, Cambridge, MA, USA.
Mehrad TavallaiFoundation Medicine, Cambridge, MA, USA.
Dexter X JinFoundation Medicine, Cambridge, MA, USA.
Ethan SokolFoundation Medicine, Cambridge, MA, USA.
Kimberly McGregorFoundation Medicine, Cambridge, MA, USA.
Jeffrey S RossFoundation Medicine, Cambridge, MA, USA.
Natalie DanzigerFoundation Medicine, Cambridge, MA, USA.
Jose Pablo LeoneMedical Oncology, Dana-Farber Cancer Institute, 450 Brookline Ave., Boston, MA, 02215, USA. JoseP_Leone@dfci.harvard.edu.

Funding

Predicting Endocrine Therapy Response In Male Breast TumorsR37CA292075 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Jose P. Leone, Philip M. Spanheimer · 2024 to 2026
$1.8M
NCI NIH HHS R37 CA292075
6 · The paper itself

Abstract

backgroundMale breast cancer (MaBC) has limited data on genomic alterations. We aimed to comprehensively describe and compare MaBC's genomics with female breast cancer's (FBC) across subtypes.

methodsUsing genomic data from Foundation Medicine, we categorized 253 MaBC into estrogen receptor (ER)-positive/human epidermal growth factor receptor 2 (HER2)-negative (n = 210), ER-positive/HER2-positive (n = 22) and triple-negative (n = 20). One ER-negative/HER2-positive case was excluded due to n-of-1. The genomics of the final MaBC cohort (n = 252) were compared to a FBC cohort (n = 2708) stratified by molecular subtype, with adjusted p-values. In the overall MaBC and FBC cohorts, we compared mutational prevalence in cancer susceptibility genes (CSG) (ATM/BRCA1/BRCA2/CHEK2/PALB2).

resultsComparing ER-positive/HER2-negative cases, MaBc had increased alterations in GATA3 (26.2% vs. 15.9%, p = 0.005), BRCA2 (13.8% vs. 5.3%, p < 0.001), MDM2 (13.3% vs. 6.14%, p = 0.004) and CDK4 (7.1% vs. 1.8%, p < 0.001); and decreased frequency of TP53 (11.0% vs. 42.6%, p < 0.001) and ESR1 mutations (5.7% vs. 14.6%, p < 0.001). Comparing ER-positive/HER2-positive cases, MaBC had increased short variants in ERBB2 (22.7% vs. 0.6%, p = 0.002), GATA3 (36.3% vs. 6.2%, p = 0.004), and MDM2 (36.3% vs. 4.9%, p = 0.002); decreased frequency of TP53 alterations was seen in MaBC versus FBC (9.1% vs. 61.7%, p < 0.001). Within triple-negative cases, MaBC had decreased alterations in TP53 compared to FBC (25.0% vs. 84.4%, p < 0.001). MaBC had higher frequency of CSG variants than FBC (22.6% vs. 14.6%, p < 0.05), with increased BRCA mutations in MaBC (14.6% vs. 9.1%, p < 0.05).

conclusionsAlthough MaBC and FBC share some common alterations, our study revealed several important differences relevant to tumor biology and implications for targeted therapies.

Indexed as

Breast NeoplasmsBreast Neoplasms, MaleErb-b2 Receptor Tyrosine KinasesGenomicsMutationReceptors, EstrogenAdultAgedBiomarkers, TumorFemaleGene Expression ProfilingGenetic Predisposition to DiseaseHumansMaleMiddle AgedNeoplasm MetastasisBiomarkers, TumorERBB2 protein, humanErb-b2 Receptor Tyrosine KinasesReceptors, EstrogenReceptors, ProgesteroneTumor Suppressor Protein p53MolecularPrecision medicineSequencingTargetTargetable

Identifiers

PMID39049124
PMCPMC11267671

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Registered trials

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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.