Evidence map›Paper›PMID 33504652›Full record

ArticleScience translational medicine2021

Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.

Camille Tlemsani, Nobuyuki Takahashi, Lorinc Pongor, Vinodh N Rajapakse, Manoj Tyagi, Xinyu Wen, Grace-Ann Fasaye, Keith T Schmidt, Parth Desai, Chul Kim and 15 more

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in Science translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
4.5field-weighted citation impact, top 4% 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.

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

39 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.

  1. Guideline
  2. Germline determinants of risk and molecular subtype in young-onset lung cancer.medRxiv : the preprint server for health sciences · 2026
    Article
  3. Inherited genetic risk factors in young-onset lung cancer.medRxiv : the preprint server for health sciences · 2026
    Article
  4. [Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2026
    Article
  5. Review
  6. The Five-Decade Journey of Small Cell Lung Cancer.Cancer communications (London, England) · 2026
    Review
  7. Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Single nucleotide variants in lung cancer.Chinese medical journal pulmonary and critical care medicine · 2024
    Review
  18. Review
  19. Review
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

25 authors at 3 institutions in 1 country.

Camille TlemsaniDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0002-3342-1704
Nobuyuki TakahashiDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
Lorinc PongorDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0001-5917-4628
Vinodh N RajapakseDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0002-5214-1089
Manoj TyagiGenetics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
Xinyu WenGenetics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0001-8233-5418
Grace-Ann FasayeGenetics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
Keith T SchmidtGenitourinary Malignancies Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
Parth DesaiDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
Chul KimGeorgetown University, Washington, DC 20007, USA.
Arun RajanThoracic and GI Malignancies Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0003-2776-3385
Shannon SwiftThoracic and GI Malignancies Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0002-7114-6926
Linda SciutoDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
Rasa VilimasDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
Santhana WebbDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
Samantha NicholsDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
William Douglas FiggGenitourinary Malignancies Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0003-2428-5613
Yves PommierDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0002-3108-0758
Kathleen CalzoneGenetics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
Seth M SteinbergBiostatistics and Data Management Section, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0002-8280-551X
Jun S WeiGenetics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0002-4812-0250
Udayan GuhaThoracic and GI Malignancies Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.
Clesson E TurnerWalter Reed National Military Medical Center, Bethesda, MD, Bethesda, MD 20814, USA.
Javed KhanGenetics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.ORCID 0000-0002-5858-0488
Anish ThomasDevelopmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA. anish.thomas@nih.gov.ORCID 0000-0003-3293-3115
Center for Cancer Research · USGeorgetown University · USWalter Reed National Military Medical Center · US

Funding

DNA Repair, Cell Cycle Checkpoints and Apoptosis as Targets for Anticancer DrugsZIABC006150 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI POMMIER, YVES · 2009 to 2025
$23.0M
Sample Processing and Analytical Methods Development for New Anticancer AgentsZICSC006536 · NCI · DIVISION OF CLINICAL SCIENCES - NCI · PI FIGG, WILLIAM DOUGLAS · 2009 to 2025
$18.1M
Exploiting DNA Replicative Stress for Novel Small Cell Lung Cancer TherapiesZIABC011793 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI THOMAS, ANISH · 2018 to 2025
$16.4M
Office of Collaborative BiostatisticsZIDSC007202 · NCI · DIVISION OF CLINICAL SCIENCES - NCI · PI CHOO-WOSOBA, HYOYOUNG · 2009 to 2025
$14.5M
Clinical Cancer Genomics ProgramZIDBC011908 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI CALZONE, KATHLEEN · 2019 to 2025
$9.3M
BIOINFORMATICS: SYSTEMS BIOLOGY OF PEDIATRIC CANCERSZIABC011002 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI KHAN, JAVED · 2009 to 2025
$9.3M
Development Therapeutics Branch Clinical TrialsZIABC011746 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI POMMIER, YVES · 2017 to 2025
$2.6M
Anti-PD-L1-TGFb antibody (M7824) in advanced Non-Small Cell Lung CancerZIABC011905 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI RAJAN, ARUN · 2019 to 2025
$817k
Durvalumab in Combination with Olaparib in Non-Small Cell Lung CancerZIABC011907 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI RAJAN, ARUN · 2019 to 2025
$809k
CV301 and Anti-PD-1 Therapy in Non-Small Cell Lung CancerZIABC011906 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI RAJAN, ARUN · 2019 to 2025
$176k
Intramural NIH HHS ZIA BC011793Intramural NIH HHS ZID BC011908
6 · The paper itself

Abstract

Because tobacco is a potent carcinogen, secondary causes of lung cancer are often diminished in perceived importance. To assess the extent of inherited susceptibility to small cell lung cancer (SCLC), the most lethal type of lung cancer, we sequenced germline exomes of 87 patients (77 SCLC and 10 extrapulmonary small cell) and considered 607 genes, discovering 42 deleterious variants in 35 cancer-predisposition genes among 43.7% of patients. These findings were validated in an independent cohort of 79 patients with SCLC. Loss of heterozygosity was observed in 3 of 14 (21.4%) tumors. Identification of variants influenced medical management and family member testing in nine (10.3%) patients. Unselected patients with SCLC were more likely to carry germline RAD51 paralog D (

Indexed as

DNA RepairGerm-Line MutationLung NeoplasmsSmall Cell Lung CarcinomaBRCA1 ProteinBRCA2 ProteinExome SequencingGenetic Predisposition to DiseaseHumansNeoplasm Recurrence, LocalBRCA1 ProteinBRCA2 Protein

Identifiers

PMID33504652
PMCPMC8489678
OpenAlexW3125037687

What OpenQuestion holds

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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.