Evidence map›Paper›PMID 33420020›Full record

Observational studyNature communications2021

Disease risk scores for skin cancers.

Pierre Fontanillas, Babak Alipanahi, Nicholas A Furlotte, Michaela Johnson, Catherine H Wilson, 23andMe Research Team, Steven J Pitts, Robert Gentleman, Adam Auton

Open access · goldAbstract readObservational StudyValidation Study
In one paragraph

Observational study in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 1 pooled it
11.0field-weighted citation impact, top 1% 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

37 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Basal cell carcinoma risk prediction in survivors of childhood cancer.Journal of the National Cancer Institute · 2025
    Article
  5. Article
  6. Article
  7. Article
  8. Assessment of the Influence of UVR in Cutaneous Melanoma.Photodermatology, photoimmunology & photomedicine · 2025
    Review
  9. Smart Cancer-Targeting and Super-Sensitive Sensing of EuMolecules (Basel, Switzerland) · 2024
    Article
  10. Article
  11. Article
  12. Review
  13. Artificial intelligence and skin cancer.Frontiers in medicine · 2024
    Review
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Review
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

9 authors at 1 institution in 1 country.

Pierre Fontanillas23andMe Inc., 223N Mathilda Ave, Sunnyvale, CA, 94086, USA. pfontanillas@23andme.com.ORCID 0000-0002-8944-4454
Babak Alipanahi23andMe Inc., 223N Mathilda Ave, Sunnyvale, CA, 94086, USA.ORCID 0000-0001-8216-7178
Nicholas A Furlotte23andMe Inc., 223N Mathilda Ave, Sunnyvale, CA, 94086, USA.
Michaela Johnson23andMe Inc., 223N Mathilda Ave, Sunnyvale, CA, 94086, USA.
Catherine H Wilson23andMe Inc., 223N Mathilda Ave, Sunnyvale, CA, 94086, USA.
23andMe Research Team
Steven J Pitts23andMe Inc., 223N Mathilda Ave, Sunnyvale, CA, 94086, USA.ORCID 0000-0002-9673-7394
Robert Gentleman23andMe Inc., 223N Mathilda Ave, Sunnyvale, CA, 94086, USA.
Adam Auton23andMe Inc., 223N Mathilda Ave, Sunnyvale, CA, 94086, USA.
23andMe (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We trained and validated risk prediction models for the three major types of skin cancer- basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma-on a cross-sectional and longitudinal dataset of 210,000 consented research participants who responded to an online survey covering personal and family history of skin cancer, skin susceptibility, and UV exposure. We developed a primary disease risk score (DRS) that combined all 32 identified genetic and non-genetic risk factors. Top percentile DRS was associated with an up to 13-fold increase (odds ratio per standard deviation increase >2.5) in the risk of developing skin cancer relative to the middle DRS percentile. To derive lifetime risk trajectories for the three skin cancers, we developed a second and age independent disease score, called DRSA. Using incident cases, we demonstrated that DRSA could be used in early detection programs for identifying high risk asymptotic individuals, and predicting when they are likely to develop skin cancer. High DRSA scores were not only associated with earlier disease diagnosis (by up to 14 years), but also with more severe and recurrent forms of skin cancer.

Indexed as

Models, StatisticalAdultAgedAged, 80 and overBasal Cell CarcinomaCarcinoma, Squamous CellCross-Sectional StudiesDatasets as TopicDirect-To-Consumer Screening and TestingFemaleFollow-Up StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIncidenceLongitudinal Studies

Identifiers

PMID33420020
PMCPMC7794415
OpenAlexW3120489956

What OpenQuestion holds

Textmetadata
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.