Evidence map›Paper›PMID 41950573›Full record

ArticleESMO open2026

BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types.

H Sasagawa, M Endo, Y Iwasaki, Y Usui, Y N Koyanagi, G Innella, J Hadler, M T Parsons, K Numakura, Y Kamatani and 6 more

Abstract read
In one paragraph

Article in ESMO open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. A GermlineIJU case reports · 2026
    Article
  2. Assessing the Clinical Relevance ofCurrent oncology (Toronto, Ont.) · 2026
    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

16 authors.

H SasagawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan; Department of Urology, Akita University Graduate School of Medicine, Akita, Japan.
M EndoLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Y IwasakiLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Y UsuiLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Y N KoyanagiDivision of Cancer Epidemiology and Prevention, Department of Preventive Medicine, Aichi Cancer Center, Nagoya, Japan.
G InnellaPopulation Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Australia; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
J HadlerPopulation Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
M T ParsonsPopulation Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
K NumakuraDepartment of Urology, Akita University Graduate School of Medicine, Akita, Japan.
Y KamataniLaboratory of Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Y MurakamiInstitute of Medical Science, Division of Molecular Pathology, Department of Cancer Biology, The University of Tokyo, Tokyo, Japan; Department of Molecular Biology, Institute for Advanced Medical Sciences, Nippon Medical School, Tokyo, Japan.
K MatsuoDivision of Cancer Epidemiology and Prevention, Department of Preventive Medicine, Aichi Cancer Center, Nagoya, Japan; Division of Cancer Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
K MatsudaLaboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
A B SpurdlePopulation Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
T HabuchiDepartment of Urology, Akita University Graduate School of Medicine, Akita, Japan.
Y MomozawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan; Genomics and Transcriptomics Unit, Advanced Multi-Omics Technology Division, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan. Electronic address: momozawa@riken.jp.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPrevious family-based and case-control studies have expanded the cancer risk profile associated with pathogenic variants in BRCA1 and BRCA2, providing the potential for expanding personalized medicine. Less common cancer types may benefit greatly from such expansion of genetic evidence because of their limited treatments and poor prognoses.

methodsWe conducted a case-control analysis of 3489 patients with nine less common cancer types (bladder, bone, brain, head and neck, sarcoma, skin, testis, thyroid, or ureteral cancer) and 38 842 controls without cancer to estimate the risk associated with BRCA1 and BRCA2 pathogenic variants of nine less common cancer types.

resultsWe identified 105 pathogenic variants among 994 germline variants. We observed four significant associations: BRCA1 with thyroid cancer [odds ratio (OR) 5.25, 95% confidence interval (CI) 2.06-13.38]; BRCA2 with bladder (OR 4.67, 95% CI 2.57-8.47), head and neck (OR 3.89, 95% CI 2.01-7.53), and skin cancers (OR 6.13, 95% CI 2.47-15.24). For bladder cancer, the impact of BRCA2 pathogenic variants was greater in females than in males (P

conclusionsThese results provide evidence to inform more precise personalized medical options for individuals with BRCA1 or BRCA2 pathogenic variants.

Indexed as

BRCA1 ProteinBRCA2 ProteinNeoplasmsAdultAgedCase-Control StudiesFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMiddle AgedRisk FactorsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1/2case-control studygermline pathogenic variantless common cancer typepersonalized medicinesex difference

Identifiers

PMID41950573
PMCPMC13090962

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LicenceCC BY-NC-ND
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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.