Evidence map›Paper›PMID 26483301›Full record

ReviewNature reviews. Clinical oncology2016

Population genetic testing for cancer susceptibility: founder mutations to genomes.

William D Foulkes, Bartha Maria Knoppers, Clare Turnbull

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Clinical oncology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed
–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

57 citing papers in PubMed.

  1. Trial
  2. Article
  3. Article
  4. Review
  5. Development and validation of ultrasound-based radiomics model to predict germline BRCA mutations in patients with breast cancer.Cancer imaging : the official publication of the International Cancer Imaging Society · 2024
    Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Cancer Genetics and Clinical Research.Journal of personalized medicine · 2022
    Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. The ten genes for breast (and ovarian) cancer susceptibility.Nature reviews. Clinical oncology · 2021
    Article
  20. Circulating carotenoids and breast cancer among high-risk individuals.The American journal of clinical nutrition · 2021
    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

3 authors.

William D FoulkesDepartment of Human Genetics, McGill University, 1205 Docteur-Penfield, Montreal, QC H3A 1B1, Canada.
Bartha Maria KnoppersDepartment of Human Genetics, McGill University, 1205 Docteur-Penfield, Montreal, QC H3A 1B1, Canada.
Clare TurnbullGenomics England 100,000 Genomes Project, William Harvey Research Institute, Barts and The London, Queen Mary University, Charterhouse Square, London EC1M 6BQ, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The current standard model for identifying carriers of high-risk mutations in cancer-susceptibility genes (CSGs) generally involves a process that is not amenable to population-based testing: access to genetic tests is typically regulated by health-care providers on the basis of a labour-intensive assessment of an individual's personal and family history of cancer, with face-to-face genetic counselling performed before mutation testing. Several studies have shown that application of these selection criteria results in a substantial proportion of mutation carriers being missed. Population-based genetic testing has been proposed as an alternative approach to determining cancer susceptibility, and aims for a more-comprehensive detection of mutation carriers. Herein, we review the existing data on population-based genetic testing, and consider some of the barriers, pitfalls, and challenges related to the possible expansion of this approach. We consider mechanisms by which population-based genetic testing for cancer susceptibility could be delivered, and suggest how such genetic testing might be integrated into existing and emerging health-care structures. The existing models of genetic testing (including issues relating to informed consent) will very likely require considerable alteration if the potential benefits of population-based genetic testing are to be fully realized.

Indexed as

Founder EffectGenetic TestingGenome, HumanMutationBiomarkers, TumorBreast NeoplasmsFemaleGenes, BRCA1Genes, BRCA2Genetic CounselingGenetic Predisposition to DiseaseHumansMass ScreeningNeoplasmsOvarian NeoplasmsRisk AssessmentBiomarkers, Tumor

Identifiers

What OpenQuestion holds

Textmetadata
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.