Evidence map›Paper›PMID 37530079›Full record

ReviewCancer science2023

Personalized medicine with germline pathogenic variants: Importance of population- and region-wide evidence.

Yoshiaki Usui, Yukihide Momozawa

Open access · goldAbstract readReview
In one paragraph

Review in Cancer science, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.3field-weighted citation impact, top 17% 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

5 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. 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

2 authors at 1 institution in 1 country.

Yoshiaki UsuiLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID https://orcid.org/0000-0001-6180-0704
Yukihide MomozawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID https://orcid.org/0000-0001-5638-3504
RIKEN Center for Integrative Medical Sciences · JP

Funding

Japan Agency for Medical Research and Development JP19kk0305010Japan Agency for Medical Research and Development JP22ama121015Japan Agency for Medical Research and Development JP23ck0106805
6 · The paper itself

Abstract

Rare germline pathogenic variants in cancer-predisposing genes have a high impact and potential for clinical utility. In the last 30 years, based on evidence of cancer risk associated with germline pathogenic variants, several measures have been suggested for personalized medicine, including the development of novel treatments, treatment stratification, risk reduction by surgical measures, chemoprevention, removal of environmental factors, and surveillance for early detection among specific high-risk individuals. However, this evidence is mainly based on evaluations of European populations. Our large-scale analyses of more than 100,000 individuals, including 14 disease cases and non-cancer controls in the Japanese population, suggest some discrepancies in the associations between cancer-predisposing genes and diseases, expansion of the targeted diseases of BRCA1 and BRCA2, and a potential novel risk-reduction measure for gastric cancer. They are likely to be explained by population and region variations; therefore, more population-wide and region-wide research could provide improved personalized medicine as well as a better understanding of disease mechanisms. This review summarizes current personalized medicine and discusses the potential use of germline pathogenic variants.

Indexed as

Breast NeoplasmsGenetic Predisposition to DiseaseFemaleGenes, BRCA2Germ CellsGerm-Line MutationHumansPrecision Medicinecancergermline pathogenic variantpersonalized medicinerisk estimationrisk reduction

Identifiers

PMID37530079
PMCPMC10551596
OpenAlexW4385477599

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.