Evidence map›Paper›PMID 40361359›Full record

ArticleCancers2025

Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.

Catherine H Marshall, Ali T Arafa, Ellen Jaeger, Stamatina Fragkogianni, Anne Sonnenschein, Elizabeth Mauer, Lukasz P Gondek, Calvin Chao, Jun Luo, Emmanuel S Antonarakis

Abstract read
In one paragraph

Article in Cancers, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. 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

10 authors.

Catherine H MarshallSidney Kimmel Comprehensive Cancer Center, Department of Oncology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-2653-4110
Ali T ArafaDepartment of Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA.ORCID 0000-0003-0460-3039
Ellen JaegerTempus AI Inc., Chicago, IL 60654, USA.ORCID 0009-0005-1386-614X
Stamatina FragkogianniTempus AI Inc., Chicago, IL 60654, USA.ORCID 0000-0002-5960-8921
Anne SonnenscheinTempus AI Inc., Chicago, IL 60654, USA.
Elizabeth MauerTempus AI Inc., Chicago, IL 60654, USA.
Lukasz P GondekSidney Kimmel Comprehensive Cancer Center, Department of Oncology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-1551-3496
Calvin ChaoTempus AI Inc., Chicago, IL 60654, USA.
Jun LuoDepartment of Urology, James Buchanan Brady Urological Institute, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA.
Emmanuel S AntonarakisDepartment of Medicine, University of Minnesota Masonic Cancer Center, Minneapolis, MN 55455, USA.ORCID 0000-0003-3531-3851

Funding

Translational Research Central ServicesP30CA006973 · NCI · JOHNS HOPKINS UNIVERSITY · PI ALAN KEITH MEEKER · 1985 to 2026
$208.6M
NIH HHS P30 CA006973
6 · The paper itself

Abstract

purposeTo determine if the risk of clonal hematopoiesis (CH) would be higher among those with germline alterations in homologous recombination repair genes (gHRR) in the four

methodsWe retrospectively analyzed deidentified data from 24,849 patient samples from the Tempus database with a primary diagnosis of breast, ovarian, prostate, and pancreatic cancers. Germline pathogenic or likely pathogenic variants in

resultsCH was identified in 14% of patients with BRCA-associated cancers.

conclusionsWhen accounting for age at time of testing, pathogenic germline alterations in DNA repair genes were associated with an increased risk of CH only among patients with breast cancer, but not in those with ovarian, pancreatic, or prostate cancers.

Indexed as

breast cancerclonal hematopoiesisgeneticsgermline DNA repair defectsovarian cancerpancreatic cancerprostate cancer

Identifiers

PMID40361359
PMCPMC12071167

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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.