Evidence map›Paper›PMID 25123297›Full record

ArticleInternational journal of cancer2015

Tumor genome analysis includes germline genome: are we ready for surprises?

Daniel V T Catenacci, Andrea L Amico, Sarah M Nielsen, Daniel M Geynisman, Brittany Rambo, George B Carey, Cassandra Gulden, Jim Fackenthal, Robert D Marsh, Hedy L Kindler and 1 more

Registry-linked trialOpen access · hybridAbstract read
In one paragraph

Article in International journal of cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06476938 (Testing the Efficacy of an eHealth Decision Support Tool to Help Latinx Cancer Patients Make Informed Decisions About Tumor Genomic Testing), which is not on this map. Cited by 34 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 4 pooled it
3.3field-weighted citation impact, top 8% of its field
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.

NCT06476938 narecruitingnot on this mapstarted 2025, after this paper: background citation

Testing the Efficacy of an eHealth Decision Support Tool to Help Latinx Cancer Patients Make Informed Decisions About Tumor Genomic Testing

TypeinterventionalSponsorFox Chase Cancer CenterRan2025 to 2027Enrolled232ConditionsCancerArmsGene PilotLX
3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 4 syntheses or guidelines pooled it, 79 citations in OpenAlex.

  1. Guideline
  2. A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Pooled it
  3. Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020
    Pooled it
  4. Pooled it
  5. Article
  6. Article
  7. Limited Independent Follow-Up with Germline Testing of Variants Detected inJournal of immunotherapy and precision oncology · 2024
    Article
  8. Article
  9. Article
  10. Identification of theJCO global oncology · 2021
    Article
  11. Article
  12. Liquid biopsy in oncology: a consensus statement of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020
    Article
  13. Article
  14. Review
  15. The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2019
    Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
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 at 2 institutions in 1 country.

Daniel V T CatenacciSection of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, IL.
Andrea L Amico
Sarah M Nielsen
Daniel M Geynisman
Brittany Rambo
George B Carey
Cassandra Gulden
Jim Fackenthal
Robert D Marsh
Hedy L Kindler
Olufunmilayo I Olopade
University of Chicago · USCancer Genetics (United States) · US

Funding

Re-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2M
Variation in Hormone and xenobiotic metabolizing enzyme genes and breast cancerP50CA125183 · NCI · UNIVERSITY OF CHICAGO · PI OLOPADE, OLUFUNMILAYO F. · 2006 to 2010
$11.3M
Developing an Oncology Workforce for the 21st Century - Renewal 01K12CA139160 · NCI · UNIVERSITY OF CHICAGO · PI OLOPADE, OLUFUNMILAYO F., SMITH, SONALI · 2010 to 2024
$10.6M
NCATS NIH HHS UL1 TR000430NCI NIH HHS K12 CA139160NCI NIH HHS K12 CA139160-01ANCI NIH HHS P50 CA125183NCI NIH HHS P50CA125183
6 · The paper itself

Abstract

We sought to describe the spectrum of potential and confirmed germline genomic events incidentally identified during routine medium-throughput somatic tumor DNA sequencing, and to provide a framework for pre- and post-test consent and counseling for patients and families. Targeted tumor-only next-generation sequencing (NGS) had been used to evaluate for possible druggable genomic events obtained from consecutive new patients with metastatic gastroesophageal, hepatobiliary or colorectal cancer seen at the University of Chicago. A panel of medical oncologists, cancer geneticists and genetic counselors retrospectively grouped these patients (N = 111) based on probability of possessing a potentially inherited mutation in a cancer susceptibility gene, both prior to and after incorporating tumor-only NGS results. High-risk patients (determined from NGS results) were contacted and counseled in person by a genetic counselor (N = 21). When possible and indicated, germline genetic testing was offered. Of 8 evaluable high-risk patients, 7 underwent germline testing. Three (37.5%) had confirmed actionable germline mutations (all in the BRCA2 gene). NGS offers promise, but poses significant challenges for oncologists who are ill prepared to handle incidental findings that have clinical implications for at risk family members. In this relatively small cohort of patients undergoing tumor genomic testing for gastrointestinal malignancies, we incidentally identified 3 BRCA2 mutations carriers. This report underscores the need for oncologists to develop a framework for pre- and post-test communication of risks to patients undergoing routine tumor-only sequencing.

Indexed as

GenomicsAdultAgedAged, 80 and overChromosome AberrationsEarly Detection of CancerFamilyFemaleGenetic CounselingGenetic TestingGerm CellsGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansMaleMiddle Agedgenetic counselinggermlinenext generation sequencingsomatic

Identifiers

PMID25123297
PMCPMC4303936
OpenAlexW1599485646

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.