Evidence map›Paper›PMID 37992258›Full record

ReviewJCO precision oncology2023

Rate of Pathogenic Germline Variants in Patients With Lung Cancer.

Steven Sorscher, Jaclyn LoPiccolo, Brandie Heald, Elaine Chen, Sara L Bristow, Scott T Michalski, Sarah M Nielsen, Alix Lacoste, Emil Keyder, Hayan Lee and 3 more

2 registry-linked trialsOpen access · hybridAbstract readReview
In one paragraph

Review in JCO precision oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
9.4field-weighted citation impact, top 2% 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.

NCT06181812 recruitingnot on this map

Prevalence of Pathogenic or Likely Pathogenic Germline Variants in Cancer Predisposition Genes Among Patients With Lung Adenocarcinoma

TypeobservationalSponsorOscar Gerardo Arrieta RodríguezRan2022 to 2027Enrolled332ConditionsLung Adenocarcinoma
NCT06196424 completednot on this map

Observational, Prospective, Multicentre Study to Investigate the Family History of Cancer in Patients With Non-small Cell Lung Cancer (FAHIC - Lung).

TypeobservationalSponsorFondazione Policlinico Universitario Campus Bio-MedicoRan2023 to 2025Enrolled336ConditionsNon Small Cell Lung CancerArmsstudy questionnaire to investigate family history
3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 30 citations in OpenAlex.

  1. Review
  2. Review
  3. Germline determinants of risk and molecular subtype in young-onset lung cancer.medRxiv : the preprint server for health sciences · 2026
    Article
  4. Article
  5. Identification ofOncology research · 2026
    Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Review
  12. Article
  13. Review
  14. Review
  15. Article
  16. Translational lung cancer research · 2024
    Article
  17. Article
  18. Current status of molecular diagnostics for lung cancer.Exploration of targeted anti-tumor therapy · 2024
    Review
  19. The Clinical and Molecular Profile of Lung Cancer Patients Harboring theInternational journal of molecular sciences · 2023
    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

13 authors at 4 institutions in 1 country.

Steven SorscherInvitae, San Francisco, CA.ORCID 0000-0001-7408-0646
Jaclyn LoPiccoloHematology/Oncology Division, Dana-Farber Cancer Center, Boston, MA.
Brandie HealdInvitae, San Francisco, CA.ORCID 0000-0003-4227-3675
Elaine ChenInvitae, San Francisco, CA.
Sara L BristowInvitae, San Francisco, CA.ORCID 0000-0002-1173-4718
Scott T MichalskiInvitae, San Francisco, CA.
Sarah M NielsenInvitae, San Francisco, CA.ORCID 0000-0002-5916-6393
Alix LacosteInvitae, San Francisco, CA.ORCID 0000-0002-9353-6706
Emil KeyderInvitae, San Francisco, CA.
Hayan LeeNuclear Dynamics and Cancer Program, Cancer Epigenetics Institute, Fox Chase Cancer Center, Philadelphia, PA.ORCID 0000-0003-0571-3192
Robert L NussbaumInvitae, San Francisco, CA.ORCID 0000-0003-3445-8880
Renato MartinsHematology, Oncology and Palliative Care Division, Massey Cancer Center, Virginia Commonwealth University, Richmond, VA.ORCID 0000-0003-2137-1145
Edward D EsplinInvitae, San Francisco, CA.ORCID 0000-0001-9205-3756
Invitae (United States) · USDana-Farber Cancer Institute · USFox Chase Cancer Center · USVirginia Commonwealth University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeGermline genetic testing (GGT) is now recommended for all patients diagnosed with ovarian or pancreatic cancer and for a large proportion of patients based solely on a diagnosis of colorectal or breast cancer. However, GGT is not yet recommended for all patients diagnosed with lung cancer (LC), primarily because of a lack of evidence that supports a significant frequency of identifying pathogenic germline variants (PGVs) in these patients. This study characterizes GGT results in a cohort of patients with LC.

methodsWe reviewed deidentified data for 7,788 patients with GGT (2015-2022). PGV frequencies were compared to a control cohort of unaffected individuals. GGT results were stratified by genomic ancestry, history of cancer, and PGV clinical actionability per current guidelines.

resultsOf all patients with LC, 14.9% (1,161/7,788) had PGVs. The rate was similar when restricted to patients with no cancer family history (FH) or personal history (PH) of other cancers (14.3%). PGVs were significantly enriched in

conclusionThis retrospective study shows a LC diagnosis identifies patients with a significant likelihood of having a cancer-predisposing PGV across genomic ancestries. Enrichment of PGVs in DDR genes suggests that these PGVs may contribute to LC cancer predisposition. The frequency of PGVs among patients with LC did not differ significantly according to FH or PH of other cancers.

Indexed as

Lung NeoplasmsGenetic Predisposition to DiseaseGenetic TestingGerm CellsHumansRetrospective Studies

Identifiers

PMID37992258
PMCPMC10681406
OpenAlexW4388899034

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.