Evidence map›Paper›PMID 41551037›Full record

ArticleJID innovations : skin science from molecules to population health2026

Deep intronic

Fiona Chan-Pak-Choon, Andrew Y Shuen, Evan Weber, Lili Fu, Barbara Rivera, William D Foulkes

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

Article in JID innovations : skin science from molecules to population health, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

6 authors.

Fiona Chan-Pak-ChoonDepartment of Human Genetics, McGill University, Montreal, Canada.
Andrew Y ShuenDepartment of Human Genetics, McGill University, Montreal, Canada.
Evan WeberDepartment of Medical Genetics, McGill University Health Centre, Montreal, Canada.
Lili FuDepartment of Pathology, McGill University, Canada.
Barbara RiveraMolecular Mechanisms and Experimental Therapy in Oncology Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Spain.
William D FoulkesDepartment of Human Genetics, McGill University, Montreal, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whole-genome sequencing can uncover clinically significant noncoding variants missed by standard germline testing, as demonstrated in this report in a patient with Muir-Torre syndrome, a subtype of Lynch syndrome. In this case, despite a convincing clinical phenotype and immunohistochemical loss of MSH2/MSH6 in 1 of the patient's tumors, conventional gene panel testing failed to detect a germline pathogenic variant. Whole-genome sequencing identified a deep intronic

Indexed as

Basal cell cancersLynch syndromeMuir–Torre syndromeSebaceous adenomas

Identifiers

PMID41551037
PMCPMC12811439

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.