Evidence map›Paper›PMID 41224689›Full record

ArticleBMJ case reports2025

A missed opportunity for preventing CMMRD: is it time to include Lynch syndrome genes in prenatal genetic testing?

Geethu Nair, Nicola Cadenas, Aparajita Singh

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Geethu NairHospital Medicine, UCSF, San Francisco, California, USA Geethu.Nair@ucsf.edu.ORCID http://orcid.org/0000-0003-3667-7024
Nicola CadenasUCSF Cancer Genetics and Prevention Program, UCSF, San Francisco, California, USA.
Aparajita SinghDivision of Gastroenterology and Hepatology, University of California San Francisco Department of Medicine, San Francisco, California, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This manuscript highlights the importance of incorporating Lynch syndrome-related genes into prenatal genetic testing to facilitate early detection of constitutional mismatch repair deficiency syndrome (CMMRD). CMMRD, linked to biallelic pathogenic variants in mismatch repair genes, is an aggressive hereditary cancer syndrome. A couple conceived through in vitro fertilisation (IVF), unaware they were carriers of Lynch syndrome. Their child, initially healthy, was diagnosed with acute bilineal leukaemia and later found to have CMMRD. His diagnosis highlighted gaps in prenatal testing. Advances in next-generation sequencing enable broader genetic screening, offering parents crucial risk assessment tools, especially those undergoing IVF, to make informed reproductive choices.

Indexed as

Colorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisGenetic TestingNeoplastic Syndromes, HereditaryPrenatal DiagnosisAdultBrain NeoplasmsFemaleFertilization in VitroHumansInfantMalePregnancyColon cancerGenetic screening / counsellingPaediatric oncologyPregnancyPrenatal Diagnosis

Identifiers

PMID41224689
PMCPMC12625528

What OpenQuestion holds

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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.