Evidence map›Paper›PMID 40418428›Full record

ArticleFamilial cancer2025

Screening of biobank SNP-array genotyping data to detect Lynch syndrome predisposing MLH1 copy number variants.

Kimmo Ala-Kulju, Olli Carpén, Maarit Lappalainen, Minja Pehrsson

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Article in Familial cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Kimmo Ala-KuljuHelsinki Biobank, Helsinki University Hospital, Helsinki, Finland. kimmo.ala-kulju@hus.fi.
Olli CarpénHelsinki Biobank, Helsinki University Hospital, Helsinki, Finland.
Maarit LappalainenLaboratory of Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.
Minja PehrssonHelsinki Biobank, Helsinki University Hospital, Helsinki, Finland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Efficient use of genetic biobank data in support of clinical care would enhance the adoption of personalized medicine. Identification of carriers of medically actionable variants that predispose to cancer enables intensified screening and follow-up to decrease disease risk. Pathogenic variants of the MLH1 gene cause Lynch syndrome with a significant risk of developing cancer. Here, we introduce a novel approach for the large-scale screening of biobank SNP-array-based genotyping data to analyze copy-number variants (CNVs). With the method developed, we analyzed the Helsinki Biobank cohort of 121 073 samples and identified 29 MLH1 exon 16 deletion (MLH1∆Ex16) carriers, of which five (17%) had not been previously identified in healthcare. Our results demonstrate a high positive predictive value for the identification of MLH1∆Ex16 carriers from genotyping data. The cost-efficient method for detection of CNV carriers from large biobank genotyping cohorts described here facilitates intensified screening and follow-up aiming to cancer prevention.

Indexed as

Colorectal Neoplasms, Hereditary NonpolyposisDNA Copy Number VariationsMutL Protein Homolog 1Polymorphism, Single NucleotideAdultBiological Specimen BanksExonsFemaleFinlandGenetic Predisposition to DiseaseGenetic TestingGenotypeGenotyping TechniquesHumansMaleMiddle AgedMLH1 protein, humanMutL Protein Homolog 1BiobankCopy number variantGenetic screeningGenotyping dataLynch syndromeMLH1Personalized medicine

Identifiers

PMID40418428
PMCPMC12106501

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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.