Evidence map›Paper›PMID 41162424›Full record

ArticleNPJ breast cancer2025

Association between ancestry and tumor somatic mutations in a large national cohort of women with breast cancer.

Kirkpatrick B Fergus, Justin Newberg, Ray Greenstein, Laura Fejerman, Luis Carvajal-Carmona, Eric Collisson, Niharika Dixit, Garrett Frampton, Franklin W Huang, Susan L Neuhausen and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ breast cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Kirkpatrick B Fergus *Department of Surgery, University of California, San Francisco, San Francisco, CA, USA.
Justin Newberg *Foundation Medicine, Boston, MA, USA.
Ray GreensteinFoundation Medicine, Boston, MA, USA.
Laura FejermanDivision of Epidemiology, Department of Public Health Sciences, University of California, Davis, CA, USA.
Luis Carvajal-CarmonaDepartment of Biochemistry Molecular Medicine, University of California, Davis, Davis, CA, USA.
Eric CollissonDivision of Human Biology, Fred Hutch Cancer Center, Seattle, WA, USA.
Niharika DixitDivision of Hematology and Oncology, Department of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Garrett FramptonFoundation Medicine, Boston, MA, USA.
Franklin W HuangDivision of Hematology and Oncology, Department of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Susan L NeuhausenBeckman Research Institute of City of Hope, Duarte, CA, USA.
Elad ZivInstitute for Human Genetics, University of California, San Francisco, CA, USA. Elad.ziv@ucsf.edu.

Funding

Staff InvestigatorsP30CA093373 · NCI · UNIVERSITY OF CALIFORNIA DAVIS · PI KC KENT LLOYD · 2002 to 2026
$84.9M
Germline variation in homologous recombination repair genes in Hispanic/Latina women to predict breast cancer risk and response to treatmentR01MD021367 · NIMHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI NEUHAUSEN, SUSAN L., ZIV, ELAD · 2025 to 2025
$4.3M
Evaluating the clinical implications for ACKR1/DARC associated neutropeniaR01HL170627 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Elad Ziv · 2023 to 2026
$2.6M
American Society of Clinical Oncology 2023YIA-9977333099California Initiative to Advance Precision Medicine OPR18111NCI NIH HHS P30 CA093373NCI NIH HHS R01CA223978, U54CA283766 and U54CA280811NHLBI NIH HHS R01 HL170627NIMHD NIH HHS R01 MD021367
6 · The paper itself

Abstract

Somatic mutations and copy number alterations in breast tumors are important to determine prognosis, predict treatment response, and identify targets for therapy. We utilized somatic sequencing data of breast tumors from Foundation Medicine Inc. to evaluate the association between genetic ancestry and somatic mutations. We used germline variants to infer genetic ancestry with both principal components analysis and ADMIXTURE. Overall, we identified 91 ancestry-specific somatic differences across 58 unique genes, which included potentially targetable genes such as PIK3CA found in higher frequency in European ancestry, and EGFR found in higher frequency in East Asian ancestry. Pan-cancer analysis of East Asian ancestry and EGFR also found higher frequency in prostate, thyroid, and kidney cancers. African ancestry was associated with increased frequency of copy number alterations overall and decreased frequency of multiple genes on the PI3K-AKT pathway. Future research is warranted to elicit the genetic and environmental conditions that underly these findings.

Identifiers

PMID41162424
PMCPMC12572180

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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.