Evidence map›Paper›PMID 28008555›Full record

ArticleBreast cancer research and treatment2017

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Mary Pritzlaff, Pia Summerour, Rachel McFarland, Shuwei Li, Patrick Reineke, Jill S Dolinsky, David E Goldgar, Hermela Shimelis, Fergus J Couch, Elizabeth C Chao and 1 more

Abstract read
In one paragraph

Article in Breast cancer research and treatment, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
78citing papers in PubMed, 5 pooled it
–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

78 citing papers in PubMed, 5 syntheses or guidelines pooled it.

  1. Guideline
  2. Pooled it
  3. Pooled it
  4. Summary ofGenes · 2020
    Pooled it
  5. Pooled it
  6. Review
  7. Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Review
  16. Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025
    Review
  17. Article
  18. Article
  19. Clinically SignificantCancers · 2024
    Article
  20. Article

18 more citing papers are in PubMed but not listed here.

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.

Mary PritzlaffAmbry Genetics, Aliso Viejo, CA, USA. mpritzlaff@ambrygen.com.
Pia SummerourAmbry Genetics, Aliso Viejo, CA, USA.
Rachel McFarlandAmbry Genetics, Aliso Viejo, CA, USA.
Shuwei LiAmbry Genetics, Aliso Viejo, CA, USA.
Patrick ReinekeAmbry Genetics, Aliso Viejo, CA, USA.
Jill S DolinskyAmbry Genetics, Aliso Viejo, CA, USA.
David E GoldgarDepartment of Dermatology, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.
Hermela ShimelisDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Elizabeth C ChaoAmbry Genetics, Aliso Viejo, CA, USA.
Holly LaDucaAmbry Genetics, Aliso Viejo, CA, USA.

Funding

The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9M
Risk and penetrance of mutations from breast cancer testing panels.R01CA192393 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$6.3M
Institutional Career Development CoreKL2TR001416 · NCATS · UNIVERSITY OF CALIFORNIA-IRVINE · PI CAIOZZO, VINCENT JAMES, DEMETRIOU, MICHAEL · 2015 to 2023
$5.6M
Identifying and validating novel susceptibility genes for breast cancerR01CA176785 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$3.4M
BRCA2 missense mutations and breast cancerR01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2007 to 2011
$3.0M
BRCA1 and BRCA2 missense mutations and breast cancer riskU01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2013 to 2017
$2.7M
NCATS NIH HHS KL2 TR001416NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA192393NCI NIH HHS U01 CA116167
6 · The paper itself

Abstract

purposeGenetic predisposition to male breast cancer (MBC) is not well understood. The aim of this study was to better define the predisposition genes contributing to MBC and the utility of germline multi-gene panel testing (MGPT) for explaining the etiology of MBCs.

methodsClinical histories and molecular results were retrospectively reviewed for 715 MBC patients who underwent MGPT from March 2012 to June 2016.

resultsThe detection rate of MGPT was 18.1% for patients tested for variants in 16 breast cancer susceptibility genes and with no prior BRCA1/2 testing. BRCA2 and CHEK2 were the most frequently mutated genes (11.0 and 4.1% of patients with no prior BRCA1/2 testing, respectively). Pathogenic variants in BRCA2 [odds ratio (OR) = 13.9; p = 1.92 × 10

conclusionThese data suggest that all MBC patients regardless of age of diagnosis, history of multiple primary cancers, or family history of MBC should be offered MGPT.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseGenetic TestingAdultAgedAged, 80 and overBreast Neoplasms, MaleCheckpoint Kinase 2Cohort StudiesFanconi Anemia Complementation Group N ProteinGene FrequencyGenes, BRCA1Genes, BRCA2GenotypeGerm-Line MutationHumansCheckpoint Kinase 2Fanconi Anemia Complementation Group N ProteinBRCA2CHEK2Male breast cancerMulti-gene panel testingPALB2

Identifiers

PMID28008555
PMCPMC5241330

What OpenQuestion holds

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LicenceCC BY
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.