Evidence map›Paper›PMID 41193855›Full record

ArticleBritish journal of cancer2026

Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.

Anna Skarin Nordenvall, Fredrik Persson, Anna Martling, Magnus Nordenskjöld, Maria Johansson Soller, Kristina Lagerstedt-Robinson, Giorgio Tettamanti, Fulya Taylan, Ann Nordgren

Abstract read
In one paragraph

Article in British journal of cancer, 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. Article
  2. 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.

Anna Skarin Nordenvall *Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. anna.skarin-nordenvall@ki.se.ORCID http://orcid.org/0000-0003-3034-9222
Fredrik Persson *Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Anna MartlingDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Magnus NordenskjöldDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Maria Johansson SollerDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Kristina Lagerstedt-RobinsonDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Giorgio TettamantiDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-5210-7219
Fulya Taylan *Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Ann Nordgren *Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-3285-4281

Funding

Barncancerfonden (Swedish Childhood Cancer Foundation) PR2022-0027Cancerföreningen i Stockholm (Cancer Society in Stockholm) 22 2057 PJStockholms Läns Landsting (Stockholm County Council) 51024Vetenskapsrådet (Swedish Research Council) 2021-02860
6 · The paper itself

Abstract

backgroundBirt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant cancer predisposition syndrome, caused by pathogenic variants in FLCN, characterized by benign fibrofolliculomas, pulmonary cysts, pneumothorax, and increased risk for kidney tumors. To date, the risk of other solid tumors in individuals with BHDS remains unclear.

methodsWe performed a register-based matched cohort study of 353 Swedish born individuals with verified pathogenic variants in FLCN to study the association between BHDS and other cancer types than kidney tumors. Each patient was matched to 50 comparisons, matched by birth year, birth county and sex. Associations were estimated using Cox Proportional Hazard models, expressed as Hazard Ratios with 95% Confidence Intervals.

resultsPatients with BHDS exhibited a significantly elevated risk of adult cancer (adjusted HR 2.25, 95% CI 1.76-2.87), primarily driven by kidney tumors. Colorectal cancer and malignant melanoma were more prevalent in the BHDS cohort, reflected by a fivefold increase in risk of colorectal cancer (adjusted HR 5.44, 95% CI 2.74-10.81) and an almost threefold risk of malignant melanoma (adjusted HR 2.67, 95% CI 1.17-6.07).

conclusionThis study confirms the high risk of kidney tumors in BHDS and identifies increased risks for colorectal cancer and malignant melanoma, though the absolute risks remain low. Further research is needed to validate the colorectal cancer association and assess its implications for screening and management.

Indexed as

Birt-Hogg-Dube SyndromeColorectal NeoplasmsMelanomaAdultAgedCohort StudiesFemaleHumansKidney NeoplasmsMaleMiddle AgedProto-Oncogene ProteinsRisk FactorsSwedenTumor Suppressor ProteinsFLCN protein, humanProto-Oncogene ProteinsTumor Suppressor Proteins

Identifiers

PMID41193855
PMCPMC12820364

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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.